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SAU WAI CHEUNG

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
Houston, TX 77030
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Bi W, Yuan B, Liu P, Murry JB, Qin X, Xia F, Quach T, Cooper LM, Wiszniewska J, Hixson P, Peacock S, Tonk VS, Huff RW, Ortega V, Lupski JR, Scherer SE, Littlejohn RO, Velagaleti GVN, Roeder ER, Cheung SW. Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences. J Med Genet. 2023 06; 60(6):547-556. PMID: 36150828.
      Citations:    
    2. Choy RKW, Cao YE, Lo FM, Cheung SW, Yang Y, Leung TY. Whole-genome sequencing of genetically undiagnosed euploid fetuses with increased nuchal translucency: abridged secondary publication. Hong Kong Med J. 2022 Feb; 28 Suppl 1(1):8-10. PMID: 35260507.
      Citations:    Fields:    Translation:Humans
    3. Deng C, Cheung SW, Liu H. Noninvasive prenatal screening for fetal sex chromosome aneuploidies. Expert Rev Mol Diagn. 2021 Apr; 21(4):405-415. PMID: 33787433.
      Citations: 1     Fields:    Translation:HumansCells
    4. Pettersson M, Grochowski CM, Wincent J, Eisfeldt J, Breman AM, Cheung SW, Lupski JR, Ottosson J, Lovmar L, Lundberg ES, Nilsson D, Carvalho CMB, Lindstrand A, Krepischi ACV, Rosenberg C, Gacic J. Cytogenetically visible inversions are formed by multiple molecular mechanisms. Hum Mutat. 2020 11; 41(11):1979-1998. PMID: 32906200; PMCID: PMC7702065.
      Citations: 6     Fields:    Translation:HumansCells
    5. Dong Z, Chau MHK, Zhang Y, Dai P, Zhu X, Leung TY, Kong X, Kwok YK, Stankiewicz P, Cheung SW, Choy KW. Deciphering the complexity of simple chromosomal insertions by genome sequencing. Hum Genet. 2021 Feb; 140(2):361-380. PMID: 32728808.
      Citations: 5     Fields:    Translation:HumansCells
    6. Yuan B, Wang L, Liu P, Shaw C, Dai H, Cooper L, Zhu W, Anderson SA, Meng L, Wang X, Wang Y, Xia F, Xiao R, Braxton A, Peacock S, Schmitt E, Ward PA, Vetrini F, He W, Chiang T, Muzny D, Gibbs RA, Beaudet AL, Breman AM, Smith J, Cheung SW, Bacino CA, Eng CM, Yang Y, Lupski JR, Bi W. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med. 2020 10; 22(10):1633-1641. PMID: 32576985; PMCID: PMC8445517.
      Citations: 13     Fields:    Translation:Humans
    7. Liu Q, Karolak JA, Grochowski CM, Wilson TA, Rosenfeld JA, Bacino CA, Lalani SR, Patel A, Breman A, Smith JL, Cheung SW, Lupski JR, Bi W, Stankiewicz P. Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings. Genomics. 2020 09; 112(5):2937-2941. PMID: 32387503; PMCID: PMC7363577.
      Citations: 5     Fields:    Translation:Humans
    8. Hijazi H, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR, Coelho FS. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat. 2020 01; 41(1):150-168. PMID: 31448840; PMCID: PMC6953250.
      Citations: 3     Fields:    Translation:HumansCells
    9. Dong Z, Yan J, Xu F, Yuan J, Jiang H, Wang H, Chen H, Zhang L, Ye L, Xu J, Shi Y, Yang Z, Cao Y, Chen L, Li Q, Zhao X, Li J, Chen A, Zhang W, Wong HG, Qin Y, Zhao H, Chen Y, Li P, Ma T, Wang WJ, Kwok YK, Jiang Y, Pursley AN, Chung JPW, Hong Y, Kristiansen K, Yang H, Leung TY, Cheung SW, Morton CC, Choy KW, Chen ZJ, Pi?a-Aguilar RE. Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage. Am J Hum Genet. 2019 12 05; 105(6):1102-1111. PMID: 31679651; PMCID: PMC6904795.
      Citations: 16     Fields:    Translation:Humans
    10. Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Harbord M, Perrier R, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Sisodiya SM, Cheung SW, Ernst C, Till M, Lemyre E, Linden T, Sanlaville D, Campeau PM. Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. Genet Med. 2019 Sep; 21(9):2159-2160. PMID: 30643220.
      Citations: 2     Fields:    
    11. Wang H, Dong Z, Zhang R, Chau MHK, Yang Z, Tsang KYC, Wong HK, Gui B, Meng Z, Xiao K, Zhu X, Wang Y, Chen S, Leung TY, Cheung SW, Kwok YK, Morton CC, Zhu Y, Choy KW. Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis. Genet Med. 2020 03; 22(3):500-510. PMID: 31447483; PMCID: PMC7042067.
      Citations: 24     Fields:    Translation:HumansCells
    12. Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, Gu S, Shaw CA, Smith JL, Lalani S, Stankiewicz P, Cheung SW, Bacino CA, Patel A, Breman AM, Wang X, Meng L, Xiao R, Xia F, Muzny D, Gibbs RA, Beaudet AL, Eng CM, Lupski JR, Yang Y, Bi W. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Med. 2019 05 17; 11(1):30. PMID: 31101064; PMCID: PMC6525387.
      Citations: 17     Fields:    Translation:Humans
    13. Carvalho CMB, Coban-Akdemir Z, Hijazi H, Yuan B, Pendleton M, Harrington E, Beaulaurier J, Juul S, Turner DJ, Kanchi RS, Jhangiani SN, Muzny DM, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, Stankiewicz P, Belmont JW, Shaw CA, Cheung SW, Hanchard NA, Sutton VR, Bader PI, Lupski JR. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25. PMID: 31014393; PMCID: PMC6480824.
      Citations: 7     Fields:    Translation:HumansCells
    14. Mohan KN, Cao Y, Pham J, Cheung SW, Hoffner L, Ou ZZ, Surti U, Cook EH, Beaudet AL. Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis. J Hum Genet. 2019 Mar; 64(3):253-255. PMID: 30542208.
      Citations: 5     Fields:    Translation:HumansCells
    15. Aref-Eshghi E, Bend EG, Hood RL, Schenkel LC, Carere DA, Chakrabarti R, Nagamani SCS, Cheung SW, Campeau PM, Prasad C, Siu VM, Brady L, Tarnopolsky MA, Callen DJ, Innes AM, White SM, Meschino WS, Shuen AY, Bulman DE, Ainsworth PJ, Lin H, Rodenhiser DI, Hennekam RC, Boycott KM, Schwartz CE, Sadikovic B, Par? G. BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes. Nat Commun. 2018 11 20; 9(1):4885. PMID: 30459321; PMCID: PMC6244416.
      Citations: 28     Fields:    Translation:HumansCells
    16. Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Harbord M, Perrier R, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Sisodiya SM, Cheung SW, Ernst C, Till M, Lemyre E, Linden T, Sanlaville D, Campeau PM. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. Genet Med. 2019 05; 21(5):1058-1064. PMID: 30245510.
      Citations: 7     Fields:    Translation:HumansCells
    17. Bornstein E, Gulersen M, Krantz D, Cheung SW, Maliszewski K, Divon MY. Microarray analysis: First-trimester maternal serum free ?-hCG and the risk of significant copy number variants. Prenat Diagn. 2018 11; 38(12):971-978. PMID: 30156700.
      Citations: 1     Fields:    Translation:Humans
    18. Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Vincent M, Nizon M, Mercier S, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S, Curr? A, Mandar? L, B?n?teau C, Caberg JH. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. Genet Med. 2019 04; 21(4):816-825. PMID: 30190612; PMCID: PMC6405313.
      Citations: 52     Fields:    Translation:HumansCells
    19. Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L, DDD Study, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P, Stray-Pedersen A. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 03; 21(3):663-675. PMID: 30158690; PMCID: PMC6395558.
      Citations: 23     Fields:    Translation:Humans
    20. Cheung SW, Bi W. Novel applications of array comparative genomic hybridization in molecular diagnostics. Expert Rev Mol Diagn. 2018 06; 18(6):531-542. PMID: 29848116.
      Citations: 9     Fields:    Translation:HumansAnimals
    21. Xing Y, Holder JL, Liu Y, Yuan M, Sun Q, Qu X, Deng L, Zhou J, Yang Y, Guo M, Cheung SW, Sun L. Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. Arch Gynecol Obstet. 2018 08; 298(2):289-295. PMID: 29808250.
      Citations: 5     Fields:    Translation:Humans
    22. Dong Z, Ye L, Yang Z, Chen H, Yuan J, Wang H, Guo X, Li Y, Wang J, Chen F, Cheung SW, Morton CC, Jiang H, Choy KW. Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing. Curr Protoc Hum Genet. 2018 01 24; 96:8.18.1-8.18.16. PMID: 29364520; PMCID: PMC5924704.
      Citations: 3     Fields:    Translation:Humans
    23. Deng L, Cheung SW, Schmitt ES, Xiong S, Yuan M, Chen Z, Chen L, Sun L. Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios. Birth Defects Res. 2018 03 01; 110(4):364-371. PMID: 29359448.
      Citations: 1     Fields:    Translation:Humans
    24. Dong Z, Wang H, Chen H, Jiang H, Yuan J, Yang Z, Wang WJ, Xu F, Guo X, Cao Y, Zhu Z, Geng C, Cheung WC, Kwok YK, Yang H, Leung TY, Morton CC, Cheung SW, Choy KW. Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics. Genet Med. 2018 07; 20(7):697-707. PMID: 29095815; PMCID: PMC5932280.
      Citations: 21     Fields:    Translation:HumansCells
    25. Lyons-Warren AM, Cheung SW, Holder JL. Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them. Neurology. 2017 10 24; 89(17):e205-e209. PMID: 29061681; PMCID: PMC5664307.
      Citations: 3     Fields:    Translation:HumansCells
    26. Petersen AK, Cheung SW, Smith JL, Bi W, Ward PA, Peacock S, Braxton A, Van Den Veyver IB, Breman AM. Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory. Am J Obstet Gynecol. 2017 12; 217(6):691.e1-691.e6. PMID: 29032050.
      Citations: 36     Fields:    Translation:HumansCells
    27. Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P, Faivre L, Lefebvre M. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83. PMID: 28934986; PMCID: PMC5607840.
      Citations: 29     Fields:    Translation:Humans
    28. Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Charif M, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P, Denomm?-Pichon AS, Besnard T, B?zieau S, Cogn? B. Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 08; 136(8):1009-1011. PMID: 28660352.
      Citations: 2     Fields:    
    29. Grau C, Starkovich M, Azamian MS, Xia F, Cheung SW, Evans P, Henderson A, Lalani SR, Scott DA. Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. PLoS One. 2017; 12(4):e0175962. PMID: 28414775; PMCID: PMC5393878.
      Citations: 6     Fields:    Translation:HumansCells
    30. Chen Y, Bartanus J, Liang D, Zhu H, Breman AM, Smith JL, Wang H, Ren Z, Patel A, Stankiewicz P, Cram DS, Cheung SW, Wu L, Yu F. Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development. Hum Mutat. 2017 06; 38(6):669-677. PMID: 28247551; PMCID: PMC5671119.
      Citations: 6     Fields:    Translation:HumansAnimals
    31. Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Charif M, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P, Denomm?-Pichon AS, Besnard T, B?zieau S, Cogn? B. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 04; 136(4):377-386. PMID: 28251352; PMCID: PMC5543723.
      Citations: 18     Fields:    Translation:Humans
    32. Liu P, Yuan B, Carvalho CMB, Wuster A, Walter K, Zhang L, Gambin T, Chong Z, Campbell IM, Coban Akdemir Z, Gelowani V, Writzl K, Bacino CA, Lindsay SJ, Withers M, Gonzaga-Jauregui C, Wiszniewska J, Scull J, Stankiewicz P, Jhangiani SN, Muzny DM, Zhang F, Chen K, Gibbs RA, Rautenstrauss B, Cheung SW, Smith J, Breman A, Shaw CA, Patel A, Hurles ME, Lupski JR. An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 02 23; 168(5):830-842.e7. PMID: 28235197; PMCID: PMC5407901.
      Citations: 32     Fields:    Translation:HumansCells
    33. Kong GW, Cao Y, Huang J, Cheng KY, Pursley AN, Rosenfeld JA, Edwards JG, Chan YM, Cheung SW, Leung TY, Choy KW. Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction. Prenat Diagn. 2016 Dec; 36(13):1211-1216. PMID: 27859473.
      Citations: 1     Fields:    Translation:HumansCells
    34. Gu S, Szafranski P, Akdemir ZC, Yuan B, Cooper ML, Bacino CA, Lalani SR, Breman AM, Smith JL, Patel A, Song RH, Bi W, Cheung SW, Carvalho CM, Stankiewicz P, Lupski JR, Magri?? MA. Mechanisms for Complex Chromosomal Insertions. PLoS Genet. 2016 Nov; 12(11):e1006446. PMID: 27880765; PMCID: PMC5120786.
      Citations: 23     Fields:    Translation:HumansCells
    35. Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ, Le Caignec C. DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. Am J Hum Genet. 2016 09 01; 99(3):555-566. PMID: 27569549; PMCID: PMC5011056.
      Citations: 29     Fields:    Translation:HumansCells
    36. Bornstein E, Berger S, Cheung SW, Maliszewski KT, Patel A, Pursley AN, Lenchner E, Bacino C, Beaudet AL, Divon MY. Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype. Am J Perinatol. 2017 03; 34(4):340-348. PMID: 27533100.
      Citations: 5     Fields:    Translation:Humans
    37. Bi W, Cheung SW, Breman AM, Bacino CA. 4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions. Am J Med Genet A. 2016 10; 170(10):2540-50. PMID: 27287194.
      Citations: 11     Fields:    Translation:HumansCells
    38. Cao Y, Li Z, Rosenfeld JA, Pursley AN, Patel A, Huang J, Wang H, Chen M, Sun X, Leung TY, Cheung SW, Choy KW. Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study. Genet Med. 2016 10; 18(10):1052-5. PMID: 26913922.
      Citations: 7     Fields:    Translation:Humans
    39. Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, Brooks AS, Malmgren H, Harila-Saari A, Marcelis CM, Vreeburg M, Hobson E, Sutton VR, Stark Z, Vogt J, Cooper N, Lim JY, Price S, Lai AH, Domingo D, Reversade B, DDD Study, Gecz J, Gilissen C, Brunner HG, Kini U, Roepman R, Nordgren A, Kleefstra T. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. Am J Hum Genet. 2016 Feb 04; 98(2):373-81. PMID: 26833328; PMCID: PMC4746365.
      Citations: 37     Fields:    Translation:HumansCells
    40. Patel A, Cheung SW. Application of DNA Microarray to Clinical Diagnostics. Methods Mol Biol. 2016; 1368:111-32. PMID: 26614072.
      Citations: 4     Fields:    Translation:HumansCells
    41. Yuan B, Harel T, Gu S, Liu P, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Magoulas PL, Potocki L, Lupski JR, Burglen L, Chantot-Bastaraud S, Malan V, Munnich A. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 2015 Nov 05; 97(5):691-707. PMID: 26544804; PMCID: PMC4667131.
      Citations: 19     Fields:    Translation:HumansCells
    42. Kumar R, Corbett MA, Van Bon BW, Gardner A, Woenig JA, Jolly LA, Douglas E, Friend K, Tan C, Van Esch H, Holvoet M, Field M, Leffler M, Budny B, Wisniewska M, Badura-Stronka M, Latos-Bielenska A, Batanian J, Rosenfeld JA, Basel-Vanagaite L, Jensen C, Bienek M, Froyen G, Ullmann R, Hu H, Love MI, Haas SA, Stankiewicz P, Cheung SW, Baxendale A, Nicholl J, Thompson EM, Haan E, Kalscheuer VM, Gecz J, Raynaud M. Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. Hum Mol Genet. 2015 Dec 20; 24(25):7171-81. PMID: 26443594.
      Citations: 19     Fields:    Translation:HumansCells
    43. Ishibashi M, Manning E, Shoubridge C, Hawkins TA, Giacomotto J, Zhao T, Mueller T, Bader PI, Cheung SW, Stankiewicz P, Bain NL, Hackett A, Reddy CC, Mechaly AS, Peers B, Wilson SW, Lenhard B, Gecz J, Becker TS, Rinkwitz S, Krecsmarik M, Bally-Cuif L. Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene. Hum Genet. 2015 Nov; 134(11-12):1163-82. PMID: 26337422.
      Citations: 7     Fields:    Translation:HumansAnimals
    44. Gennarino VA, Alcott CE, Chen CA, Chaudhury A, Gillentine MA, Rosenfeld JA, Parikh S, Wheless JW, Roeder ER, Roney EK, Smith JL, Cheung SW, Li W, Neilson JR, Schaaf CP, Zoghbi HY, Horovitz DD. NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation. Elife. 2015 Aug 27; 4. PMID: 26312503; PMCID: PMC4586391.
      Citations: 38     Fields:    Translation:HumansCells
    45. Holder JL, Cheung SW. Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome. Am J Med Genet A. 2015 Nov; 167A(11):2737-41. PMID: 26138022.
      Citations: 2     Fields:    Translation:HumansCells
    46. Probst FJ, James RA, Burrage LC, Rosenfeld JA, Bohan TP, Ward Melver CH, Magoulas P, Austin E, Franklin AI, Azamian M, Xia F, Patel A, Bi W, Bacino C, Belmont JW, Ware SM, Shaw C, Cheung SW, Lalani SR. De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. Orphanet J Rare Dis. 2015 Jun 14; 10:75. PMID: 26070612; PMCID: PMC4472615.
      Citations: 3     Fields:    Translation:HumansCells
    47. Smyk M, Roeder E, Cheung SW, Szafranski P, Stankiewicz P. A de novo 1.58?Mb deletion, including MAP2K6 and mapping 1.28?Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures. Am J Med Genet A. 2015 Aug; 167A(8):1842-50. PMID: 26059046.
      Citations: 5     Fields:    Translation:Humans
    48. Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015 Jul 15; 24(14):4061-77. PMID: 25908615; PMCID: PMC4476451.
      Citations: 51     Fields:    Translation:HumansCells
    49. Cheung SW, Patel A, Leung TY. Accurate description of DNA-based noninvasive prenatal screening. N Engl J Med. 2015 Apr 23; 372(17):1675-7. PMID: 25830325.
      Citations: 16     Fields:    Translation:Humans
    50. Mohammed RK, Cheung S, Parikh SP, Asgaria K. Conservative management of aortic arch injury following penetrating trauma. Ann R Coll Surg Engl. 2015 Apr; 97(3):184-7. PMID: 26263801; PMCID: PMC4474009.
      Citations:    Fields:    Translation:Humans
    51. Turner TN, Sharma K, Oh EC, Liu YP, Collins RL, Sosa MX, Auer DR, Brand H, Sanders SJ, Moreno-De-Luca D, Pihur V, Plona T, Pike K, Soppet DR, Smith MW, Cheung SW, Martin CL, State MW, Talkowski ME, Cook E, Huganir R, Katsanis N, Chakravarti A. Loss of d-catenin function in severe autism. Nature. 2015 Apr 02; 520(7545):51-6. PMID: 25807484; PMCID: PMC4383723.
      Citations: 70     Fields:    Translation:HumansAnimalsCells
    52. El-Hattab AW, Schaaf CP, Fang P, Roeder E, Kimonis VE, Church JA, Patel A, Cheung SW. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review. BMC Med Genet. 2015 Mar 14; 16:12. PMID: 25927380; PMCID: PMC4422130.
      Citations: 12     Fields:    Translation:HumansCells
    53. Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Chen Y, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med. 2015 Jan 22; 372(4):341-50. PMID: 25564734; PMCID: PMC4326244.
      Citations: 121     Fields:    Translation:HumansCells
    54. Dharmadhikari AV, Gambin T, Szafranski P, Cao W, Probst FJ, Jin W, Fang P, Gogolewski K, Gambin A, George-Abraham JK, Golla S, Boidein F, Duban-Bedu B, Delobel B, Andrieux J, Becker K, Holinski-Feder E, Cheung SW, Stankiewicz P. Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. BMC Med Genet. 2014 Dec 04; 15:128. PMID: 25472632; PMCID: PMC4411736.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    55. Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte AB, Patel GS, Immken L, Aleck K, Lim C, Cheung SW, Katsanis N, Lupski JR, Carvalho CM, Vianna-Morgante AM, Krepischi AC, Rosenberg C. Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet. 2014 Nov 06; 95(5):565-78. PMID: 25439725; PMCID: PMC4225592.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    56. Jorgez CJ, Rosenfeld JA, Wilken NR, Vangapandu HV, Sahin A, Pham D, Carvalho CM, Bandholz A, Miller A, Weaver DD, Burton B, Babu D, Bamforth JS, Wilks T, Flynn DP, Roeder E, Patel A, Cheung SW, Lupski JR, Lamb DJ. Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. PLoS One. 2014; 9(9):e107028. PMID: 25203062; PMCID: PMC4159299.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    57. Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wisniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet. 2014 Aug 07; 95(2):173-82. PMID: 25087610; PMCID: PMC4129404.
      Citations: 99     Fields:    Translation:HumansCells
    58. Han S, Zhang B, Romero K, Addai J, Sahin A, Cheung SW, Lamb DJ, Tannour-Louet M, Louet JF. Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action. Nat Med. 2014 Jul; 20(7):715-24. PMID: 24880616; PMCID: PMC4283218.
      Citations: 17     Fields:    Translation:HumansAnimals
    59. Jiang YH, Wang Y, Xiu X, Choy KW, Pursley AN, Cheung SW. Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era. Crit Rev Clin Lab Sci. 2014 Oct; 51(5):249-62. PMID: 24878448; PMCID: PMC5937018.
      Citations: 16     Fields:    Translation:Humans
    60. Peddibhotla S, Nagamani SC, Erez A, Hunter JV, Holder JL, Carlin ME, Bader PI, Newman L, Simpson G, Immken L, Powell E, Mohanty A, Kang SH, Stankiewicz P, Bacino CA, Bi W, Patel A, Cheung SW, Perras HM, Allanson JE. Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27. Eur J Hum Genet. 2015 Jan; 23(1):54-60. PMID: 24736736; PMCID: PMC4266737.
      Citations: 20     Fields:    Translation:HumansCells
    61. Jorgez CJ, Weedin JW, Sahin A, Tannour-Louet M, Han S, Bournat JC, Mielnik A, Cheung SW, Nangia A, Schlegel PN, Lipshultz LI, Lamb DJ. Y-chromosome microdeletions are not associated with SHOX haploinsufficiency. Hum Reprod. 2014 May; 29(5):1113-4. PMID: 24634249; PMCID: PMC6296315.
      Citations: 1     Fields:    Translation:HumansCells
    62. Lau TK, Cheung SW, Lo PS, Pursley AN, Chan MK, Jiang F, Zhang H, Wang W, Jong LF, Yuen OK, Chan HY, Chan WS, Choy KW. Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center. Ultrasound Obstet Gynecol. 2014 Mar; 43(3):254-64. PMID: 24339153.
      Citations: 38     Fields:    Translation:HumansCells
    63. Soler-Alfonso C, Ge J, Roney EK, Bader PI, Kolodziejska KE, Miller RM, Lupski JR, Stankiewicz P, Cheung SW, Bi W, Schaaf CP, Carvalho CM. CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree. Eur J Hum Genet. 2014 Sep; 22(9):1071-6. PMID: 24424125; PMCID: PMC4135413.
      Citations: 19     Fields:    Translation:HumansCells
    64. Zaveri HP, Beck TF, Shelly KE, Montgomery T, van Haeringen A, Anderlid BM, Patel C, Goel H, Houge G, Morrow BE, Cheung SW, Lalani SR, Scott DA, Hern?ndez-Garc?a A. Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36. PLoS One. 2014; 9(1):e85600. PMID: 24454898; PMCID: PMC3893250.
      Citations: 22     Fields:    Translation:HumansCells
    65. Pham J, Shaw C, Pursley A, Hixson P, Sampath S, Roney E, Gambin T, Kang SH, Bi W, Lalani S, Bacino C, Lupski JR, Stankiewicz P, Patel A, Cheung SW. Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Aug; 22(8):969-78. PMID: 24398791; PMCID: PMC4350600.
      Citations: 23     Fields:    Translation:HumansCells
    66. Naftalin CM, Chan KC, Wong KH, Cheung SW, Chan RC, Lee SS. CYP2B6-G516T genotype influences plasma efavirenz concentration in a Hong Kong population, allowing potential individualization of therapy. HIV Med. 2014 Jan; 15(1):63-4. PMID: 24299220.
      Citations: 3     Fields:    Translation:HumansCells
    67. Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, van den Ende J, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Golabi M, Blair E, Male A, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM, F?lix TM, Wisniewska M, Kayserili H, Repetto GM, Giuliano F, Wieczorek D. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan; 13(1):44-58. PMID: 24291220; PMCID: PMC3895324.
      Citations: 51     Fields:    Translation:Humans
    68. Han K, Holder JL, Schaaf CP, Lu H, Chen H, Kang H, Tang J, Wu Z, Hao S, Cheung SW, Yu P, Sun H, Breman AM, Patel A, Lu HC, Zoghbi HY. SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 2013 Nov 07; 503(7474):72-7. PMID: 24153177; PMCID: PMC3923348.
      Citations: 157     Fields:    Translation:HumansAnimalsCells
    69. Peddibhotla S, Khalifa M, Probst FJ, Stein J, Harris LL, Kearney DL, Vance GH, Bull MJ, Grange DK, Scharer GH, Kang SH, Stankiewicz P, Bacino CA, Cheung SW, Patel A. Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis. Am J Med Genet A. 2013 Dec; 161A(12):2953-63. PMID: 24123848.
      Citations: 11     Fields:    Translation:HumansCells
    70. Campbell IM, Rao M, Arredondo SD, Lalani SR, Xia Z, Kang SH, Bi W, Breman AM, Smith JL, Bacino CA, Beaudet AL, Patel A, Cheung SW, Lupski JR, Stankiewicz P, Ramocki MB, Shaw CA. Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. PLoS Genet. 2013; 9(9):e1003797. PMID: 24086149; PMCID: PMC3784560.
      Citations: 8     Fields:    Translation:Humans
    71. Shuvarikov A, Campbell IM, Dittwald P, Neill NJ, Bialer MG, Moore C, Wheeler PG, Wallace SE, Hannibal MC, Murray MF, Giovanni MA, Terespolsky D, Sodhi S, Cassina M, Viskochil D, Moghaddam B, Herman K, Brown CW, Beck CR, Gambin A, Cheung SW, Patel A, Lamb AN, Shaffer LG, Ellison JW, Ravnan JB, Stankiewicz P, Rosenfeld JA. Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays. Hum Mutat. 2013 Oct; 34(10):1415-23. PMID: 23878096; PMCID: PMC4599348.
      Citations: 17     Fields:    Translation:HumansCells
    72. Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 08; 93(2):197-210. PMID: 23810381; PMCID: PMC3738832.
      Citations: 22     Fields:    Translation:HumansCells
    73. Lalani SR, Ware SM, Wang X, Zapata G, Tian Q, Franco LM, Jiang Z, Bucasas K, Scott DA, Campeau PM, Hanchard N, Cast A, Patel A, Cheung SW, McBride KL, Bray M, Craig Chinault A, Boggs BA, Huang M, Baker MR, Hamilton S, Towbin J, Jefferies JL, Fernbach SD, Potocki L, Belmont JW, Uma?a L. MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. Hum Mol Genet. 2013 Nov 01; 22(21):4339-48. PMID: 23773997; PMCID: PMC3792692.
      Citations: 17     Fields:    Translation:HumansAnimals
    74. Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, Bock HG, Descartes M, Probst FJ, Scaglia F, Beaudet AL, Lupski JR, Eng C, Cheung SW, Bacino C, Patel A. Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet. 2014 Jan; 22(1):79-87. PMID: 23695279; PMCID: PMC3865406.
      Citations: 58     Fields:    Translation:Humans
    75. Boone PM, Campbell IM, Baggett BC, Soens ZT, Rao MM, Hixson PM, Patel A, Bi W, Cheung SW, Lalani SR, Beaudet AL, Stankiewicz P, Shaw CA, Lupski JR. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 Sep; 23(9):1383-94. PMID: 23685542; PMCID: PMC3759716.
      Citations: 35     Fields:    Translation:Humans
    76. Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P, Rodr?guez Rojas LX. NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013 Sep; 23(9):1395-409. PMID: 23657883; PMCID: PMC3759717.
      Citations: 60     Fields:    Translation:HumansCells
    77. Szafranski P, Chen CA, Immken L, Simpson Patel G, Hixson P, Cheung SW, Stankiewicz P, Schaaf CP, Witsch J. Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay. Eur J Hum Genet. 2013 Nov; 21(11):1304-7. PMID: 23486542; PMCID: PMC3798847.
      Citations: 3     Fields:    Translation:Humans
    78. Harris RA, Shaw C, Li J, Cheung SW, Coarfa C, Jeong M, Goodell MA, White LD, Patel A, Kang SH, Chinault AC, Gambin T, Gambin A, Lupski JR, Milosavljevic A. Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability. PLoS Genet. 2013; 9(2):e1003333. PMID: 23468659; PMCID: PMC3585018.
      Citations: 1     Fields:    Translation:HumansCells
    79. Burrage LC, Eble TN, Hixson PM, Roney EK, Cheung SW, Franco LM. A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14. Am J Med Genet A. 2013 Apr; 161A(4):841-4. PMID: 23444363; PMCID: PMC6868782.
      Citations: 8     Fields:    Translation:HumansCells
    80. Bi W, Borgan C, Pursley AN, Hixson P, Shaw CA, Bacino CA, Lalani SR, Patel A, Stankiewicz P, Lupski JR, Beaudet AL, Cheung SW. Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? Genet Med. 2013 Jun; 15(6):450-7. PMID: 23238528.
      Citations: 23     Fields:    Translation:Humans
    81. Bi W, Probst FJ, Wiszniewska J, Plunkett K, Roney EK, Carter BS, Williams MD, Stankiewicz P, Patel A, Stevens CA, Lupski JR, Cheung SW. Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events. J Med Genet. 2012 Nov; 49(11):681-8. PMID: 23042811.
      Citations: 6     Fields:    Translation:HumansCells
    82. Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, Li C, Ware SM, Cheung SW, Penny DJ, Jefferies JL, Belmont JW. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet. 2013 Feb; 21(2):173-81. PMID: 22929023; PMCID: PMC3548268.
      Citations: 21     Fields:    Translation:HumansCells
    83. Dumas LJ, O'Bleness MS, Davis JM, Dickens CM, Anderson N, Keeney JG, Jackson J, Sikela M, Raznahan A, Giedd J, Rapoport J, Nagamani SS, Erez A, Brunetti-Pierri N, Sugalski R, Lupski JR, Fingerlin T, Cheung SW, Sikela JM. DUF1220-domain copy number implicated in human brain-size pathology and evolution. Am J Hum Genet. 2012 Sep 07; 91(3):444-54. PMID: 22901949; PMCID: PMC3511999.
      Citations: 64     Fields:    Translation:HumansAnimalsCells
    84. Yatsenko SA, Hixson P, Roney EK, Scott DA, Schaaf CP, Ng YT, Palmer R, Fisher RB, Patel A, Cheung SW, Lupski JR. Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization. Hum Genet. 2012 Dec; 131(12):1895-910. PMID: 22890305; PMCID: PMC3493700.
      Citations: 21     Fields:    Translation:HumansCells
    85. Nagamani SC, Erez A, Probst FJ, Bader P, Evans P, Baker LA, Fang P, Bertin T, Hixson P, Stankiewicz P, Nelson D, Patel A, Cheung SW. Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function. Neurogenetics. 2012 Nov; 13(4):333-9. PMID: 22890812.
      Citations: 11     Fields:    Translation:HumansCells
    86. Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW. A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype. BMC Med Genet. 2012 Aug 10; 13:71. PMID: 22883432; PMCID: PMC3575261.
      Citations: 8     Fields:    Translation:Humans
    87. Boone PM, Soens ZT, Campbell IM, Stankiewicz P, Cheung SW, Patel A, Beaudet AL, Plon SE, Shaw CA, McGuire AL, Lupski JR. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 Jan; 15(1):45-54. PMID: 22878507; PMCID: PMC3705759.
      Citations: 17     Fields:    Translation:HumansCells
    88. Nagamani SC, Erez A, Ben-Zeev B, Frydman M, Winter S, Zeller R, El-Khechen D, Escobar L, Stankiewicz P, Patel A, Cheung SW. Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders. Eur J Hum Genet. 2013 Mar; 21(3):343-6. PMID: 22872102; PMCID: PMC3573196.
      Citations: 27     Fields:    Translation:Humans
    89. Campbell IM, Yatsenko SA, Hixson P, Reimschisel T, Thomas M, Wilson W, Dayal U, Wheless JW, Crunk A, Curry C, Parkinson N, Fishman L, Riviello JJ, Nowaczyk MJ, Zeesman S, Rosenfeld JA, Bejjani BA, Shaffer LG, Cheung SW, Lupski JR, Stankiewicz P, Scaglia F. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet Med. 2012 Oct; 14(10):868-76. PMID: 22722545; PMCID: PMC3713627.
      Citations: 25     Fields:    Translation:HumansCells
    90. Schaaf CP, Boone PM, Sampath S, Williams C, Bader PI, Mueller JM, Shchelochkov OA, Brown CW, Crawford HP, Phalen JA, Tartaglia NR, Evans P, Campbell WM, Tsai AC, Parsley L, Grayson SW, Scheuerle A, Luzzi CD, Thomas SK, Eng PA, Kang SH, Patel A, Stankiewicz P, Cheung SW. Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Eur J Hum Genet. 2012 Dec; 20(12):1240-7. PMID: 22617343; PMCID: PMC3499754.
      Citations: 46     Fields:    Translation:Humans
    91. Li J, Harris RA, Cheung SW, Coarfa C, Jeong M, Goodell MA, White LD, Patel A, Kang SH, Shaw C, Chinault AC, Gambin T, Gambin A, Lupski JR, Milosavljevic A. Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome. PLoS Genet. 2012; 8(5):e1002692. PMID: 22615578; PMCID: PMC3355074.
      Citations: 43     Fields:    Translation:HumansAnimalsCells
    92. Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB, Malan V. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012 Apr 29; 44(6):639-41. PMID: 22544363.
      Citations: 76     Fields:    Translation:HumansCells
    93. Dharmadhikari AV, Kang SH, Szafranski P, Person RE, Sampath S, Prakash SK, Bader PI, Phillips JA, Hannig V, Williams M, Vinson SS, Wilfong AA, Reimschisel TE, Craigen WJ, Patel A, Bi W, Lupski JR, Belmont J, Cheung SW, Stankiewicz P. Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55. PMID: 22543972; PMCID: PMC3392111.
      Citations: 10     Fields:    Translation:HumansCells
    94. Holder JL, Lotze TE, Bacino C, Cheung SW. A child with an inherited 0.31?Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome. Am J Med Genet A. 2012 Aug; 158A(8):1962-6. PMID: 22488736.
      Citations: 6     Fields:    Translation:HumansCells
    95. Skinner C, Schroer R, Eng P, Shenai J, Nowaczyk MM, Terespolsky D, Cushing D, Patel GS, Immken L, Willis A, Wiszniewska J, Matalon R, Rosenfeld JA, Stevenson RE, Kang SH, Cheung SW, Beaudet AL, Stankiewicz P, Celestino-Soper PB. Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. Mol Cytogenet. 2012 Apr 05; 5:17. PMID: 22480366; PMCID: PMC3351998.
      Citations: 21     
    96. Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn. 2012 Apr; 32(4):351-61. PMID: 22467166.
      Citations: 35     Fields:    Translation:HumansCells
    97. Bi W, Breman A, Shaw CA, Stankiewicz P, Gambin T, Lu X, Cheung SW, Jackson LG, Lupski JR, Van den Veyver IB, Beaudet AL. Detection of =1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat Diagn. 2012 Jan; 32(1):10-20. PMID: 22470934.
      Citations: 11     Fields:    Translation:HumansCells
    98. Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan; 33(1):165-79. PMID: 21948486; PMCID: PMC3655525.
      Citations: 21     Fields:    Translation:HumansCells
    99. El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson JB, Patel GS, Grange DK, Manwaring LP, Patel A, Stankiewicz P, Cheung SW. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. J Med Genet. 2011 Dec; 48(12):840-50. PMID: 21984752.
      Citations: 23     Fields:    Translation:HumansCells
    100. Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet. 2011 Oct 02; 43(11):1074-81. PMID: 21964572; PMCID: PMC3235474.
      Citations: 100     Fields:    Translation:HumansCells
    101. Nagamani SC, Erez A, Bay C, Pettigrew A, Lalani SR, Herman K, Graham BH, Nowaczyk MJ, Proud M, Craigen WJ, Hopkins B, Kozel B, Plunkett K, Hixson P, Stankiewicz P, Patel A, Cheung SW. Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. Eur J Hum Genet. 2012 Feb; 20(2):176-9. PMID: 21934713; PMCID: PMC3260920.
      Citations: 16     Fields:    Translation:HumansCells
    102. Liu P, Erez A, Nagamani SC, Dhar SU, Kolodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W, Hern?ndez-Almaguer D. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 2011 Sep 16; 146(6):889-903. PMID: 21925314; PMCID: PMC3242451.
      Citations: 196     Fields:    Translation:HumansCells
    103. Gu J, Sreenath Nagamani SC, Hopwood VL, Sanchez B, Saeidinejad Y, Ou Z, Peacock S, Grange DK, Stankiewicz P, Cheung SW. Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay. Am J Med Genet A. 2011 Oct; 155A(10):2589-92. PMID: 21910221.
      Citations:    Fields:    Translation:HumansCells
    104. Murdock DR, Clark GD, Bainbridge MN, Newsham I, Wu YQ, Muzny DM, Cheung SW, Gibbs RA, Ramocki MB. Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. Am J Med Genet A. 2011 Sep; 155A(9):2071-7. PMID: 21834044; PMCID: PMC3616765.
      Citations: 24     Fields:    Translation:HumansCells
    105. El-Hattab AW, Bournat J, Eng PA, Wu JB, Walker BA, Stankiewicz P, Cheung SW, Brown CW. Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development. Clin Genet. 2011 Jun; 79(6):531-8. PMID: 20662849.
      Citations: 9     Fields:    Translation:HumansCells
    106. Campbell IM, Kolodziejska KE, Quach MM, Wolf VL, Cheung SW, Lalani SR, Ramocki MB, Stankiewicz P. TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly. Am J Med Genet A. 2011 Jun; 155A(6):1442-7. PMID: 21567932; PMCID: PMC3646644.
      Citations: 7     Fields:    Translation:Humans
    107. Breman AM, Probst FJ, Blazo MA, Schaaf CP, Roney EK, Craigen WJ, Bacino CA, Cheung SW. Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q. Am J Med Genet A. 2011 Jun; 155A(6):1465-8. PMID: 21567909; PMCID: PMC3651890.
      Citations: 1     Fields:    Translation:HumansCells
    108. Wat MJ, Veenma D, Hogue J, Holder AM, Yu Z, Wat JJ, Hanchard N, Shchelochkov OA, Fernandes CJ, Johnson A, Lally KP, Slavotinek A, Danhaive O, Schaible T, Cheung SW, Rauen KA, Tonk VS, Tibboel D, de Klein A, Scott DA. Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. J Med Genet. 2011 May; 48(5):299-307. PMID: 21525063; PMCID: PMC3227222.
      Citations: 36     Fields:    Translation:HumansCells
    109. Bartnik M, Derwinska K, Gos M, Obersztyn E, Kolodziejska KE, Erez A, Szpecht-Potocka A, Fang P, Terczynska I, Mierzewska H, Lohr NJ, Bellus GA, Reimschisel T, Bocian E, Mazurczak T, Cheung SW, Stankiewicz P. Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. Genet Med. 2011 May; 13(5):447-52. PMID: 21293276.
      Citations: 22     Fields:    Translation:HumansCells
    110. Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88. PMID: 21355048; PMCID: PMC3080608.
      Citations: 36     Fields:    Translation:HumansCells
    111. Solomon BD, Patel A, Cheung SW, Pineda-Alvarez DE. VACTERL association and mitochondrial dysfunction. Birth Defects Res A Clin Mol Teratol. 2011 Mar; 91(3):192-4. PMID: 21308977; PMCID: PMC3500509.
      Citations: 9     Fields:    Translation:HumansCells
    112. Jorgez CJ, Weedin JW, Sahin A, Tannour-Louet M, Han S, Bournat JC, Mielnik A, Cheung SW, Nangia AK, Schlegel PN, Lipshultz LI, Lamb DJ. Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions. J Clin Endocrinol Metab. 2011 Apr; 96(4):E674-9. PMID: 21252244; PMCID: PMC3070254.
      Citations: 25     Fields:    Translation:HumansCells
    113. van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB. The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr; 19(4):400-8. PMID: 21248748; PMCID: PMC3060324.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    114. Ou Z, Stankiewicz P, Xia Z, Breman AM, Dawson B, Wiszniewska J, Szafranski P, Cooper ML, Rao M, Shao L, South ST, Coleman K, Fernhoff PM, Deray MJ, Rosengren S, Roeder ER, Enciso VB, Chinault AC, Patel A, Kang SH, Shaw CA, Lupski JR, Cheung SW. Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res. 2011 Jan; 21(1):33-46. PMID: 21205869; PMCID: PMC3012924.
      Citations: 42     Fields:    Translation:HumansCells
    115. Fruhman G, El-Hattab AW, Belmont JW, Patel A, Cheung SW, Sutton VR. Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH. Am J Med Genet A. 2011 Feb; 155A(2):434-8. PMID: 21271668.
      Citations: 2     Fields:    Translation:HumansCells
    116. Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschisel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, Patel A, Cheung SW. Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011 Mar; 19(3):280-6. PMID: 21150890; PMCID: PMC3061988.
      Citations: 39     Fields:    Translation:HumansCells
    117. Breman AM, Ramocki MB, Kang SH, Williams M, Freedenberg D, Patel A, Bader PI, Cheung SW. MECP2 duplications in six patients with complex sex chromosome rearrangements. Eur J Hum Genet. 2011 Apr; 19(4):409-15. PMID: 21119712; PMCID: PMC3060318.
      Citations: 12     Fields:    Translation:HumansCells
    118. Ramocki MB, Bartnik M, Szafranski P, Kolodziejska KE, Xia Z, Bravo J, Miller GS, Rodriguez DL, Williams CA, Bader PI, Szczepanik E, Mazurczak T, Antczak-Marach D, Coldwell JG, Akman CI, McAlmon K, Cohen MP, McGrath J, Roeder E, Mueller J, Kang SH, Bacino CA, Patel A, Bocian E, Shaw CA, Cheung SW, Mazurczak T, Stankiewicz P. Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet. 2010 Dec 10; 87(6):857-65. PMID: 21109226; PMCID: PMC2997378.
      Citations: 34     Fields:    Translation:HumansAnimalsCells
    119. Erickson RP, Yatsenko SA, Larson K, Cheung SW. A Case of Agonadism, Skeletal Malformations, Bicuspid Aortic Valve, and Delayed Development with a 16p13.3 Duplication Including GNG13 and SOX8 Upstream Enhancers: Are Either, Both or Neither Involved in the Phenotype? Mol Syndromol. 2011 Jan; 1(4):185-191. PMID: 21373258; PMCID: PMC3042122.
      Citations: 3     
    120. Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42. PMID: 20848651; PMCID: PMC3158569.
      Citations: 122     Fields:    Translation:HumansCells
    121. Sanchez-Valle A, Wang X, Potocki L, Xia Z, Kang SH, Carlin ME, Michel D, Williams P, Cabrera-Meza G, Brundage EK, Eifert AL, Stankiewicz P, Cheung SW, Lalani SR. HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. Am J Med Genet A. 2010 Nov; 152A(11):2854-60. PMID: 20979191; PMCID: PMC3605882.
      Citations: 12     Fields:    Translation:HumansCells
    122. Tannour-Louet M, Han S, Corbett ST, Louet JF, Yatsenko S, Meyers L, Shaw CA, Kang SH, Cheung SW, Lamb DJ. Identification of de novo copy number variants associated with human disorders of sexual development. PLoS One. 2010 Oct 26; 5(10):e15392. PMID: 21048976; PMCID: PMC2964326.
      Citations: 63     Fields:    Translation:Humans
    123. Wat MJ, Enciso VB, Wiszniewski W, Resnick T, Bader P, Roeder ER, Freedenberg D, Brown C, Stankiewicz P, Cheung SW, Scott DA. Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia. J Med Genet. 2010 Nov; 47(11):777-81. PMID: 20921022; PMCID: PMC3225959.
      Citations: 18     Fields:    Translation:HumansCells
    124. El-Hattab AW, Zhang F, Maxim R, Christensen KM, Ward JC, Hines-Dowell S, Scaglia F, Lupski JR, Cheung SW. Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants. Genet Med. 2010 Sep; 12(9):573-86. PMID: 20860070.
      Citations: 21     Fields:    Translation:HumansCells
    125. Brunetti-Pierri N, Paciorkowski AR, Ciccone R, Della Mina E, Bonaglia MC, Borgatti R, Schaaf CP, Sutton VR, Xia Z, Jelluma N, Ruivenkamp C, Bertrand M, de Ravel TJ, Jayakar P, Belli S, Rocchetti K, Pantaleoni C, D'Arrigo S, Hughes J, Cheung SW, Zuffardi O, Stankiewicz P. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet. 2011 Jan; 19(1):102-7. PMID: 20736978; PMCID: PMC3039509.
      Citations: 57     Fields:    Translation:HumansCells
    126. Shao L, Kang SH, Li J, Hixson P, Taylor J, Yatsenko SA, Shaw CA, Milosavljevic A, Chang CC, Cheung SW, Patel A. Array comparative genomic hybridization detects chromosomal abnormalities in hematological cancers that are not detected by conventional cytogenetics. J Mol Diagn. 2010 Sep; 12(5):670-9. PMID: 20724749; PMCID: PMC2928432.
      Citations: 9     Fields:    Translation:HumansCells
    127. Tsai AC, Dossett CJ, Walton CS, Cramer AE, Eng PA, Nowakowska BA, Pursley AN, Stankiewicz P, Wiszniewska J, Cheung SW. Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. Eur J Hum Genet. 2011 Jan; 19(1):43-9. PMID: 20717166; PMCID: PMC3039495.
      Citations: 20     Fields:    Translation:Humans
    128. Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, Stankiewicz P, Lupski JR, Limon J. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur J Med Genet. 2010 Nov-Dec; 53(6):378-82. PMID: 20727427.
      Citations: 7     Fields:    Translation:Humans
    129. Bartnik M, Chun-Hui Tsai A, Xia Z, Cheung SW, Stankiewicz P. Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures. Clin Genet. 2011 Aug; 80(2):191-5. PMID: 20807223.
      Citations: 13     Fields:    Translation:Humans
    130. Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, Shinawi M, Beaudet AL, Stankiewicz P. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat. 2010 Jul; 31(7):840-50. PMID: 20506139; PMCID: PMC3162316.
      Citations: 67     Fields:    Translation:HumansCells
    131. Wisniowiecka-Kowalnik B, Nesteruk M, Peters SU, Xia Z, Cooper ML, Savage S, Amato RS, Bader P, Browning MF, Haun CL, Duda AW, Cheung SW, Stankiewicz P. Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. Am J Med Genet B Neuropsychiatr Genet. 2010 Jul; 153B(5):983-93. PMID: 20162629.
      Citations: 35     Fields:    Translation:HumansCells
    132. Shinawi M, Cain MP, Vanderbrink BA, Grignon DJ, Mensing D, Cooper ML, Bader P, Cheung SW. Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter? Am J Med Genet A. 2010 Jul; 152A(7):1832-7. PMID: 20583182.
      Citations: 7     Fields:    Translation:HumansCells
    133. Nowakowska BA, Obersztyn E, Szymanska K, Bekiesinska-Figatowska M, Xia Z, Ricks CB, Bocian E, Stockton DW, Szczaluba K, Nawara M, Patel A, Scott DA, Cheung SW, Bohan TP, Stankiewicz P. Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C. Am J Med Genet B Neuropsychiatr Genet. 2010 Jul; 153B(5):1042-51. PMID: 20333642.
      Citations: 37     Fields:    Translation:HumansCells
    134. Qidwai K, Pearson DM, Patel GS, Pober BR, Immken LL, Cheung SW, Scott DA. Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia. Am J Med Genet A. 2010 Jun; 152A(6):1588-90. PMID: 20503342; PMCID: PMC2909827.
      Citations: 6     Fields:    Translation:HumansCells
    135. Shchelochkov OA, Cheung SW, Lupski JR. Genomic and clinical characteristics of microduplications in chromosome 17. Am J Med Genet A. 2010 May; 152A(5):1101-10. PMID: 20425816.
      Citations: 14     Fields:    Translation:HumansCells
    136. Kang SH, Shaw C, Ou Z, Eng PA, Cooper ML, Pursley AN, Sahoo T, Bacino CA, Chinault AC, Stankiewicz P, Patel A, Lupski JR, Cheung SW. Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. Am J Med Genet A. 2010 May; 152A(5):1111-26. PMID: 20340098; PMCID: PMC3726029.
      Citations: 31     Fields:    Translation:HumansCells
    137. Bacino CA, Cheung SW. Introductory comments on special section-genomic microduplications: When adding may equal subtracting. Am J Med Genet A. 2010 May; 152A(5):1063-5. PMID: 20425812.
      Citations: 2     Fields:    Translation:Humans
    138. Stankiewicz P, Pursley AN, Cheung SW. Challenges in clinical interpretation of microduplications detected by array CGH analysis. Am J Med Genet A. 2010 May; 152A(5):1089-100. PMID: 20425815.
      Citations: 16     Fields:    Translation:HumansCells
    139. Erez A, Li J, Geraghty MT, Ben-Shachar S, Cooper ML, Mensing DE, Vonalt KD, Ou Z, Pursley AN, Chinault AC, Patel A, Cheung SW, Sahoo T. Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature. Am J Med Genet A. 2010 Mar; 152A(3):732-6. PMID: 20186791.
      Citations: 7     Fields:    Translation:HumansCells
    140. Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoo T. 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. Am J Med Genet A. 2010 Mar; 152A(3):573-81. PMID: 20186804; PMCID: PMC3119894.
      Citations: 57     Fields:    Translation:HumansCells
    141. Yatsenko AN, Yatsenko SA, Weedin JW, Lawrence AE, Patel A, Peacock S, Matzuk MM, Lamb DJ, Cheung SW, Lipshultz LI. Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men. J Urol. 2010 Apr; 183(4):1636-42. PMID: 20172548; PMCID: PMC2969182.
      Citations: 20     Fields:    Translation:Humans
    142. El-Hattab AW, Skorupski JC, Hsieh MH, Breman AM, Patel A, Cheung SW, Craigen WJ. OEIS complex associated with chromosome 1p36 deletion: a case report and review. Am J Med Genet A. 2010 Feb; 152A(2):504-11. PMID: 20101692.
      Citations: 13     Fields:    Translation:HumansCells
    143. Ricks CB, Masand R, Fang P, Roney EK, Cheung SW, Scott DA. Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25. Am J Med Genet A. 2010 Feb; 152A(2):453-8. PMID: 20101693.
      Citations: 2     Fields:    Translation:HumansCells
    144. Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41. PMID: 19914906; PMCID: PMC3158566.
      Citations: 213     Fields:    Translation:HumansCells
    145. Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P. A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet. 2009 Dec; 41(12):1269-71. PMID: 19898479; PMCID: PMC3158565.
      Citations: 83     Fields:    Translation:Humans
    146. Nagamani SC, Erez A, Shen J, Li C, Roeder E, Cox S, Karaviti L, Pearson M, Kang SH, Sahoo T, Lalani SR, Stankiewicz P, Sutton VR, Cheung SW. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet. 2010 Mar; 18(3):278-84. PMID: 19844256; PMCID: PMC2987224.
      Citations: 38     Fields:    Translation:HumansCells
    147. Franco LM, de Ravel T, Graham BH, Frenkel SM, Van Driessche J, Stankiewicz P, Lupski JR, Vermeesch JR, Cheung SW. A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. Eur J Hum Genet. 2010 Feb; 18(2):258-61. PMID: 19844260; PMCID: PMC2987195.
      Citations: 17     Fields:    Translation:HumansCells
    148. Thienpont B, Breckpot J, Philip N, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K, B?na F, Menten B. Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet. 2010 Mar; 47(3):155-61. PMID: 19833603.
      Citations: 19     Fields:    Translation:HumansCells
    149. Breman AM, Bi WM, Cheung SW. Prenatal diagnosis by array-based comparative genomic hybridization in the clinical laboratory setting. Beijing Da Xue Xue Bao Yi Xue Ban. 2009 Aug 18; 41(4):500-4. PMID: 19727248.
      Citations: 1     Fields:    Translation:Humans
    150. Williams JM, Beck TF, Pearson DM, Proud MB, Cheung SW, Scott DA. A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder. Am J Med Genet A. 2009 Aug; 149A(8):1758-62. PMID: 19606485; PMCID: PMC2909829.
      Citations: 31     Fields:    Translation:HumansCells
    151. Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, Scaglia F, Zori RT, Cheung SW, Scott DA, Kang SH. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A. 2009 Aug; 149A(8):1661-77. PMID: 19606479; PMCID: PMC2765374.
      Citations: 58     Fields:    Translation:HumansCells
    152. Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009 Dec; 46(12):825-33. PMID: 19584063.
      Citations: 43     Fields:    Translation:HumansCells
    153. Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P. Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet. 2009 Oct 01; 18(19):3579-93. PMID: 19578123.
      Citations: 81     Fields:    Translation:HumansCells
    154. El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet. 2009 Oct; 126(4):589-602. PMID: 19557438; PMCID: PMC3669685.
      Citations: 34     Fields:    Translation:HumansCells
    155. Yatsenko SA, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA, Gunderson KL, Ou Z, Chinault AC, Cheung SW. Identification of critical regions for clinical features of distal 10q deletion syndrome. Clin Genet. 2009 Jul; 76(1):54-62. PMID: 19558528.
      Citations: 21     Fields:    Translation:HumansCells
    156. Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O'Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet. 2009 Jun; 84(6):780-91. PMID: 19500772; PMCID: PMC2694971.
      Citations: 166     Fields:    Translation:HumansCells
    157. Erez A, Patel AJ, Wang X, Xia Z, Bhatt SS, Craigen W, Cheung SW, Lewis RA, Fang P, Davenport SL, Stankiewicz P, Lalani SR. Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics. 2009 Oct; 10(4):363-9. PMID: 19471977.
      Citations: 13     Fields:    Translation:HumansCells
    158. Stumm M, Wegner RD, Bhatt S, Hickmann P, Patsalis PC, Meins M, Morlot S, Klaschka V, Ewers E, Hinreiner S, Mrasek K, Kosyakova N, Cai WW, Cheung SW, Weise A, Liehr T. 10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences. Cytogenet Genome Res. 2009; 124(1):102-5. PMID: 19372675.
      Citations: 8     Fields:    Translation:HumansCells
    159. Yatsenko SA, Shaw CA, Ou Z, Pursley AN, Patel A, Bi W, Cheung SW, Lupski JR, Chinault AC, Beaudet AL. Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA. J Mol Diagn. 2009 May; 11(3):226-37. PMID: 19324990; PMCID: PMC2671340.
      Citations: 3     Fields:    Translation:HumansCells
    160. Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009 Jun 15; 18(12):2188-203. PMID: 19324899; PMCID: PMC2685756.
      Citations: 91     Fields:    Translation:HumansCells
    161. Yatsenko SA, Brundage EK, Roney EK, Cheung SW, Chinault AC, Lupski JR. Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum Mol Genet. 2009 Jun 01; 18(11):1924-36. PMID: 19293338; PMCID: PMC2678925.
      Citations: 29     Fields:    Translation:HumansCells
    162. Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet. 2009 Jun; 46(6):382-8. PMID: 19289393; PMCID: PMC2776649.
      Citations: 96     Fields:    Translation:HumansCells
    163. Jensen DR, Martin DM, Gebarski S, Sahoo T, Brundage EK, Chinault AC, Otto EA, Chaki M, Hildebrandt F, Cheung SW, Lesperance MM. A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. Am J Med Genet A. 2009 Mar; 149A(3):396-402. PMID: 19215039; PMCID: PMC2872113.
      Citations: 9     Fields:    Translation:HumansCells
    164. Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O. Increased LIS1 expression affects human and mouse brain development. Nat Genet. 2009 Feb; 41(2):168-77. PMID: 19136950; PMCID: PMC4396744.
      Citations: 104     Fields:    Translation:HumansAnimalsCells
    165. Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, Beaudet AL. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn. 2009 Jan; 29(1):29-39. PMID: 19012303; PMCID: PMC3665952.
      Citations: 39     Fields:    Translation:Humans
    166. Yan J, Zhang F, Brundage E, Scheuerle A, Lanpher B, Erickson RP, Powis Z, Robinson HB, Trapane PL, Stachiw-Hietpas D, Keppler-Noreuil KM, Lalani SR, Sahoo T, Chinault AC, Patel A, Cheung SW, Lupski JR. Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. J Med Genet. 2009 Sep; 46(9):626-34. PMID: 19052029; PMCID: PMC4302738.
      Citations: 17     Fields:    Translation:HumansCells
    167. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec; 40(12):1466-71. PMID: 19029900; PMCID: PMC2680128.
      Citations: 247     Fields:    Translation:HumansCells
    168. Lu XY, Phung MT, Shaw CA, Pham K, Neil SE, Patel A, Sahoo T, Bacino CA, Stankiewicz P, Kang SH, Lalani S, Chinault AC, Lupski JR, Cheung SW, Beaudet AL. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics. 2008 Dec; 122(6):1310-8. PMID: 19047251; PMCID: PMC2795566.
      Citations: 60     Fields:    Translation:Humans
    169. Nagamani SC, Erez A, Eng C, Ou Z, Chinault C, Workman L, Coldwell J, Stankiewicz P, Patel A, Lupski JR, Cheung SW. Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. Eur J Hum Genet. 2009 May; 17(5):573-81. PMID: 19034313; PMCID: PMC2986272.
      Citations: 19     Fields:    Translation:HumansCells
    170. Martinez-Moczygemba M, Doan ML, Elidemir O, Fan LL, Cheung SW, Lei JT, Moore JP, Tavana G, Lewis LR, Zhu Y, Muzny DM, Gibbs RA, Huston DP. Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. J Exp Med. 2008 Nov 24; 205(12):2711-6. PMID: 18955567; PMCID: PMC2585851.
      Citations: 77     Fields:    Translation:HumansAnimalsCells
    171. Bi W, Breman AM, Venable SF, Eng PA, Sahoo T, Lu XY, Patel A, Beaudet AL, Cheung SW, White LD. Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH. Prenat Diagn. 2008 Oct; 28(10):943-9. PMID: 18792925.
      Citations: 8     Fields:    Translation:Humans
    172. Derwinska K, Smyk M, Cooper ML, Bader P, Cheung SW, Stankiewicz P. PTCH1 duplication in a family with microcephaly and mild developmental delay. Eur J Hum Genet. 2009 Feb; 17(2):267-71. PMID: 18830227; PMCID: PMC2986050.
      Citations: 14     Fields:    Translation:Humans
    173. Ou Z, Martin DM, Bedoyan JK, Cooper ML, Chinault AC, Stankiewicz P, Cheung SW. Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement. Am J Med Genet A. 2008 Oct 01; 146A(19):2480-9. PMID: 18666230.
      Citations: 12     Fields:    Translation:HumansCells
    174. Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L. 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet. 2009 Mar; 46(3):168-75. PMID: 18812404; PMCID: PMC2680125.
      Citations: 18     Fields:    Translation:HumansAnimals
    175. Nowakowska B, Stankiewicz P, Obersztyn E, Ou Z, Li J, Chinault AC, Smyk M, Borg K, Mazurczak T, Cheung SW, Bocian E. Application of metaphase HR-CGH and targeted Chromosomal Microarray Analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features. Am J Med Genet A. 2008 Sep 15; 146A(18):2361-9. PMID: 18698622.
      Citations: 7     Fields:    Translation:Humans
    176. Smyk M, Obersztyn E, Nowakowska B, Nawara M, Cheung SW, Mazurczak T, Stankiewicz P, Bocian E. Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 05; 147B(6):799-806. PMID: 18165974.
      Citations: 26     Fields:    Translation:HumansCells
    177. Shao L, Shaw CA, Lu XY, Sahoo T, Bacino CA, Lalani SR, Stankiewicz P, Yatsenko SA, Li Y, Neill S, Pursley AN, Chinault AC, Patel A, Beaudet AL, Lupski JR, Cheung SW. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A. 2008 Sep 01; 146A(17):2242-51. PMID: 18663743; PMCID: PMC2680131.
      Citations: 47     Fields:    Translation:HumansCells
    178. Brunetti-Pierri N, Sahoo T, Frioux S, Chinault C, Zascavage R, Cheung SW, Peters S, Shinawi M. 15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization. Am J Med Genet A. 2008 Aug 01; 146A(15):1933-41. PMID: 18561338.
      Citations: 6     Fields:    Translation:HumansCells
    179. Jiang YH, Martinez JE, Ou Z, Cooper ML, Kang SH, Pursley A, Cheung SW. De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23). Am J Med Genet A. 2008 Aug 01; 146A(15):1986-93. PMID: 18627051.
      Citations: 2     Fields:    Translation:HumansCells
    180. Shchelochkov OA, Cooper ML, Ou Z, Peacock S, Yatsenko SA, Brown CW, Fang P, Stankiewicz P, Cheung SW. Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement. Mol Cytogenet. 2008 Jul 25; 1:16. PMID: 18655707; PMCID: PMC2518151.
      Citations: 5     
    181. Shinawi M, Cheung SW. The array CGH and its clinical applications. Drug Discov Today. 2008 Sep; 13(17-18):760-70. PMID: 18617013.
      Citations: 50     Fields:    Translation:HumansAnimalsCells
    182. Patel A, Kang SH, Lennon PA, Li YF, Rao PN, Abruzzo L, Shaw C, Chinault AC, Cheung SW. Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemia. Am J Hematol. 2008 Jul; 83(7):540-6. PMID: 18161787.
      Citations: 13     Fields:    Translation:HumansCellsCTClinical Trials
    183. Simovich MJ, Bland SD, Peiffer DA, Gunderson KL, Cheung SW, Yatsenko SA, Shinawi M. Delineation of the proximal 3q microdeletion syndrome. Am J Med Genet A. 2008 Jul 01; 146A(13):1729-35. PMID: 18536049.
      Citations: 4     Fields:    Translation:HumansCells
    184. Shinawi M, Shao L, Jeng LJ, Shaw CA, Patel A, Bacino C, Sutton VR, Belmont J, Cheung SW. Low-level mosaicism of trisomy 14: phenotypic and molecular characterization. Am J Med Genet A. 2008 Jun 01; 146A(11):1395-405. PMID: 18412278.
      Citations: 9     Fields:    Translation:HumansCells
    185. Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet. 2008 Jun; 40(6):719-21. PMID: 18500341; PMCID: PMC2705197.
      Citations: 236     Fields:    Translation:HumansCells
    186. Probst FJ, Cooper ML, Cheung SW, Justice MJ. Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome. J Hered. 2008 Sep-Oct; 99(5):512-7. PMID: 18499648; PMCID: PMC2877559.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    187. Shinawi M, Erez A, Shardy DL, Lee B, Naeem R, Weissenberger G, Chinault AC, Cheung SW, Plon SE. Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q. Blood. 2008 Aug 15; 112(4):1042-7. PMID: 18487507; PMCID: PMC2515126.
      Citations: 20     Fields:    Translation:HumansCells
    188. Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77. PMID: 18414210.
      Citations: 73     Fields:    Translation:HumansCells
    189. Ou Z, Kang SH, Shaw CA, Carmack CE, White LD, Patel A, Beaudet AL, Cheung SW, Chinault AC. Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med. 2008 Apr; 10(4):278-89. PMID: 18414211; PMCID: PMC2782565.
      Citations: 54     Fields:    Translation:HumansCells
    190. Weise A, Mrasek K, Fickelscher I, Claussen U, Cheung SW, Cai WW, Liehr T, Kosyakova N. Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set. J Histochem Cytochem. 2008 May; 56(5):487-93. PMID: 18256020; PMCID: PMC2324187.
      Citations: 40     Fields:    Translation:HumansCells
    191. Darilek S, Ward P, Pursley A, Plunkett K, Furman P, Magoulas P, Patel A, Cheung SW, Eng CM. Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives. Genet Med. 2008 Jan; 10(1):13-8. PMID: 18197052.
      Citations: 22     Fields:    Translation:HumansCells
    192. Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet. 2008 Jan; 82(1):214-21. PMID: 18179902; PMCID: PMC2253964.
      Citations: 71     Fields:    Translation:HumansCells
    193. Kang SH, Cooper ML, Patel A, Peiffer DA, Hawkins A, Heidenreich R, Gunderson KL, Cheung SW, Erickson RP, Powis Z. Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA. Am J Med Genet A. 2007 Dec 15; 143A(24):2910-5. PMID: 18000900.
      Citations: 4     Fields:    Translation:HumansCells
    194. Simovich MJ, Yatsenko SA, Kang SH, Cheung SW, Dudek ME, Pursley A, Ward PA, Patel A, Lupski JR. Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation. Prenat Diagn. 2007 Dec; 27(12):1112-7. PMID: 17849500.
      Citations: 7     Fields:    Translation:HumansCells
    195. Borg K, Nowakowska B, Obersztyn E, Cheung SW, Brycz-Witkowska J, Korniszewski L, Mazurczak T, Stankiewicz P, Bocian E. Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation. Am J Med Genet A. 2007 Nov 15; 143A(22):2738-43. PMID: 17937435.
      Citations: 6     Fields:    Translation:HumansCells
    196. Brunetti-Pierri N, Grange DK, Ou Z, Peiffer DA, Peacock SK, Cooper ML, Eng PA, Lalani SR, Chinault AC, Gunderson KL, Craigen WJ, Cheung SW. Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization. Clin Genet. 2007 Nov; 72(5):411-9. PMID: 17916097.
      Citations: 5     Fields:    Translation:HumansCells
    197. Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, Lalani SR, Roeder E, Enciso V, Braddock S, Buchholz J, Vacha S, Chinault AC, Cheung SW, Bacino CA. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007 Oct; 72(4):329-38. PMID: 17850629.
      Citations: 16     Fields:    Translation:HumansCells
    198. Shen Y, Irons M, Miller DT, Cheung SW, Lip V, Sheng X, Tomaszewicz K, Shao H, Fang H, Tang HS, Walsh CA, Platt O, Gusella JF, Wu BL. Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem. 2007 Dec; 53(12):2051-9. PMID: 17901113.
      Citations: 14     Fields:    Translation:Humans
    199. Nowakowska B, Kutkowska-Kazmierczak A, Stankiewicz P, Bocian E, Obersztyn E, Ou Z, Cheung SW, Cai WW. A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. Am J Med Genet A. 2007 Aug 15; 143A(16):1885-9. PMID: 17632781.
      Citations: 9     Fields:    Translation:HumansCells
    200. Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007 Aug 01; 143A(15):1679-86. PMID: 17607705.
      Citations: 59     Fields:    Translation:HumansCells
    201. Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med. 2007 Jul; 9(7):427-41. PMID: 17666889.
      Citations: 71     Fields:    Translation:HumansCells
    202. Probst FJ, Roeder ER, Enciso VB, Ou Z, Cooper ML, Eng P, Li J, Gu Y, Stratton RF, Chinault AC, Shaw CA, Sutton VR, Cheung SW, Nelson DL. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A. 2007 Jun 15; 143A(12):1358-65. PMID: 17506108.
      Citations: 28     Fields:    Translation:HumansCells
    203. Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P. Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet. 2007 Aug; 122(1):63-70. PMID: 17503084.
      Citations: 24     Fields:    Translation:HumansCells
    204. Smyk M, Obersztyn E, Nowakowska B, Bocian E, Cheung SW, Mazurczak T, Stankiewicz P. Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. Am J Med Genet A. 2007 Apr 15; 143A(8):866-70. PMID: 17352389.
      Citations: 7     Fields:    Translation:HumansCells
    205. Lennon PA, Cooper ML, Peiffer DA, Gunderson KL, Patel A, Peters S, Cheung SW, Bacino CA. Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. Am J Med Genet A. 2007 Apr 15; 143A(8):791-8. PMID: 17330859.
      Citations: 32     Fields:    Translation:HumansCells
    206. Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, Sullivan CM, Sahoo T, Yatsenko SA, Bacino CA, Stankiewicz P, Ou Z, Chinault AC, Beaudet AL, Lupski JR, Cheung SW, Ward PA. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One. 2007 Mar 28; 2(3):e327. PMID: 17389918; PMCID: PMC1828620.
      Citations: 74     Fields:    Translation:HumansCells
    207. Pietrzak J, Mrasek K, Obersztyn E, Stankiewicz P, Kosyakova N, Weise A, Cheung SW, Cai WW, von Eggeling F, Mazurczak T, Bocian E, Liehr T. Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients. J Appl Genet. 2007; 48(2):167-75. PMID: 17495351.
      Citations: 8     Fields:    Translation:HumansCells
    208. del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92. PMID: 17172942.
      Citations: 121     Fields:    Translation:HumansCells
    209. Sahoo T, Cheung SW, Ward P, Darilek S, Patel A, del Gaudio D, Kang SH, Lalani SR, Li J, McAdoo S, Burke A, Shaw CA, Stankiewicz P, Chinault AC, Van den Veyver IB, Roa BB, Beaudet AL, Eng CM. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med. 2006 Nov; 8(11):719-27. PMID: 17108764.
      Citations: 36     Fields:    Translation:HumansCells
    210. Lennon PA, Boerkoel CF, Plunkett K, Soukam S, Cheung SW, Patel A. A novel 8.5 MB dup(1)(p34.1p34.3) characterized by FISH in a child presenting with congenital heart defect and dysmorphic features. Am J Med Genet A. 2006 Sep 01; 140A(17):1864-70. PMID: 16892326.
      Citations:    Fields:    Translation:HumansCells
    211. Peiffer DA, Le JM, Steemers FJ, Chang W, Jenniges T, Garcia F, Haden K, Li J, Shaw CA, Belmont J, Cheung SW, Shen RM, Barker DL, Gunderson KL. High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res. 2006 Sep; 16(9):1136-48. PMID: 16899659; PMCID: PMC1557768.
      Citations: 259     Fields:    Translation:HumansCells
    212. Ou Z, Jarmuz M, Sparagana SP, Michaud J, Yatsenko SA, Nowakowska B, Furman P, Shaw CA, Shaffer LG, Lupski JR, Chinault AC, Cheung SW, Stankiewicz P, D?carie JC. Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. Hum Genet. 2006 Sep; 120(2):227-37. PMID: 16791615.
      Citations: 5     Fields:    Translation:HumansCells
    213. Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet. 2006 Jul 15; 15(14):2250-65. PMID: 16774974.
      Citations: 35     Fields:    Translation:HumansCells
    214. Lennon PA, Scott DA, Lonsdorf D, Wargowski DS, Kirkpatrick S, Patel A, Cheung SW. WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH. Am J Med Genet A. 2006 Jun 01; 140(11):1214-8. PMID: 16646034.
      Citations: 5     Fields:    Translation:HumansCells
    215. Lennon PA, Cooper ML, Curtis MA, Lim C, Ou Z, Patel A, Cheung SW, Bacino CA. Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation. Am J Med Genet A. 2006 Jun 01; 140(11):1156-63. PMID: 16688748.
      Citations: 1     Fields:    Translation:HumansCells
    216. Cooper ML, Darilek S, Wun WS, Angus SC, Mensing DE, Pursley AN, Dunn RC, Grunert GM, Cheung SW. A retrospective study of preimplantation embryos diagnosed with monosomy by fluorescence in situ hybridization (FISH). Cytogenet Genome Res. 2006; 114(3-4):359-66. PMID: 16954679.
      Citations: 3     Fields:    Translation:Humans
    217. Lee JA, Cheung SW, Ward PA, Inoue K, Lupski JR. Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization. Prenat Diagn. 2005 Dec; 25(13):1188-91. PMID: 16353282.
      Citations: 6     Fields:    Translation:Humans
    218. Roa BB, Pulliam J, Eng CM, Cheung SW. Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis. Expert Rev Mol Diagn. 2005 Nov; 5(6):883-92. PMID: 16255630.
      Citations: 6     Fields:    Translation:Humans
    219. Hwang KS, Pearson MA, Stankiewicz P, Lennon PA, Cooper ML, Wu J, Ou Z, Cai WW, Patel A, Cheung SW. Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features. Am J Med Genet A. 2005 Aug 15; 137(1):88-93. PMID: 16015583.
      Citations: 2     Fields:    Translation:HumansCells
    220. Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL. Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med. 2005 Jul-Aug; 7(6):422-32. PMID: 16024975.
      Citations: 93     Fields:    Translation:HumansCells
    221. Scott DA, Cooper ML, Stankiewicz P, Patel A, Potocki L, Cheung SW. Congenital diaphragmatic hernia in WAGR syndrome. Am J Med Genet A. 2005 May 01; 134(4):430-3. PMID: 15779010.
      Citations: 17     Fields:    Translation:HumansCells
    222. Yatsenko SA, Cheung SW, Scott DA, Nowaczyk MJ, Tarnopolsky M, Naidu S, Bibat G, Patel A, Leroy JG, Scaglia F, Stankiewicz P, Lupski JR. Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. J Med Genet. 2005 Apr; 42(4):328-35. PMID: 15805160; PMCID: PMC1736036.
      Citations: 15     Fields:    Translation:HumansCells
    223. Yatsenko SA, Yatsenko AN, Szigeti K, Craigen WJ, Stankiewicz P, Cheung SW, Lupski JR. Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome. Clin Genet. 2004 Aug; 66(2):128-36. PMID: 15253763.
      Citations: 12     Fields:    Translation:HumansCells
    224. Stankiewicz P, Cheung SW, Shaw CJ, Saleki R, Szigeti K, Lupski JR. The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3. Cytogenet Genome Res. 2003; 101(2):118-23. PMID: 14610351.
      Citations: 3     Fields:    Translation:HumansCells
    225. Cheung SW, Nagarajan SS, Bedenbaugh PH, Schreiner CE, Wang X, Wong A. Auditory cortical neuron response differences under isoflurane versus pentobarbital anesthesia. Hear Res. 2001 Jun; 156(1-2):115-27. PMID: 11377887.
      Citations: 44     Fields:    Translation:AnimalsCells
    226. Kirshon B, Reiter A, Adam K, Cheung SW. Confirmation of paternal disomy in a twin molar pregnancy. A case report. J Reprod Med. 2000 Jan; 45(1):39-41. PMID: 10664946.
      Citations:    Fields:    Translation:HumansCells
    227. Griffiths PD, Blaser S, Mukonoweshuro W, Armstrong D, Milo-Mason G, Cheung S. Neurofibromatosis bright objects in children with neurofibromatosis type 1: a proliferative potential? Pediatrics. 1999 Oct; 104(4):e49. PMID: 10506274.
      Citations: 28     Fields:    Translation:Humans
    228. Ing PS, Van Dyke DL, Caudill SP, Reidy JA, Bice G, Bieber FR, Buchanan PD, Carroll AJ, Cheung SW, DeWald G, Donahue RP, Gardner HA, Higgins J, Hsu LY, Jamehdor M, Keitges EA, Laundon CH, Luthardt FW, Mascarello J, May KM, Meck JM, Morton C, Patil S, Peakman D, Pettenati MJ, Rao N, Sanger WG, Saxe DF, Schwartz S, Sekhon GS, Vance GH, Wyandt HE, Yu CW, Zenger-Hain J, Chen AT. Detection of mosaicism in amniotic fluid cultures: a CYTO2000 collaborative study. Genet Med. 1999 Mar-Apr; 1(3):94-7. PMID: 11336459.
      Citations:    Fields:    Translation:HumansCells
    229. Cheung SW, Shaffer LG, Richards CS, Page SL, Riconda DL. Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15. Am J Med Genet. 1997 Oct 03; 72(1):47-50. PMID: 9295074.
      Citations: 2     Fields:    Translation:HumansCells
    230. Yew WW, Chau CH, Wong PC, Lee J, Wong CF, Cheung SW, Chan CY, Cheng AF. Ciprofloxacin in the management of pulmonary tuberculosis in the face of hepatic dysfunction. Drugs Exp Clin Res. 1995; 21(2):79-83. PMID: 7555613.
      Citations: 3     Fields:    Translation:HumansCTClinical Trials
    231. Featherstone T, Cheung SW, Spitznagel E, Peakman D. Exclusion of chromosomal mosaicism in amniotic fluid cultures: determination of number of colonies needed for accurate analysis. Prenat Diagn. 1994 Nov; 14(11):1009-17. PMID: 7877948.
      Citations:    Fields:    Translation:HumansCells
    232. Cheung SW, Spitznagel E, Featherstone T, Crane JP. Sensitivity of chromosomal mosaicism detected by different tissue culture methods. Prenat Diagn. 1991 Dec; 11(12):927-9. PMID: 1805198.
      Citations:    Fields:    Translation:Humans
    233. Yew WW, Lee J, Chan CY, Cheung SW, Wong PC, Kwan SY. Ofloxacin penetration into tuberculous pleural effusion. Antimicrob Agents Chemother. 1991 Oct; 35(10):2159-60. PMID: 1759841; PMCID: PMC245347.
      Citations: 3     Fields:    Translation:HumansCells
    234. Johnson VP, McDonough PG, Cheung SW, Sun L. Sex chromosome marker: clinical significance and DNA characterization. Am J Med Genet. 1991 Apr 01; 39(1):97-101. PMID: 1867271.
      Citations: 2     Fields:    Translation:HumansCells
    235. Cheung SW, Crane JP, Beaver H. Correlation between phenotypic expression of de novo marker chromosomes and genomic organization using replicational banding. Prenat Diagn. 1990 Nov; 10(11):717-24. PMID: 2284273.
      Citations: 3     Fields:    Translation:HumansCells
    236. Cheung SW, Sun L, Featherstone T. Molecular cytogenetic evidence to characterize breakpoint regions in Robertsonian translocations. Cytogenet Cell Genet. 1990; 54(3-4):97-102. PMID: 2265566.
      Citations: 16     Fields:    Translation:HumansCells
    237. Cheung SW, Spitznagel E, Featherstone T, Crane JP. Exclusion of chromosomal mosaicism in amniotic fluid cultures: efficacy of in situ versus flask techniques. Prenat Diagn. 1990 Jan; 10(1):41-57. PMID: 2315276.
      Citations: 1     Fields:    Translation:HumansCells
    238. Romagnano A, Featherstone T, Sun L, Crane JP, Cheung SW. Direct preparations from chorionic villi--relationship between villous morphology and mitotic index. Prenat Diagn. 1989 Jun; 9(6):385-91. PMID: 2762232.
      Citations:    Fields:    Translation:HumansCells
    239. Cheung SW, Kolacki PL, Watson MS, Crane JP. Prenatal diagnosis, fetal pathology, and cytogenetic analysis of mosaic trisomy 14. Prenat Diagn. 1988 Nov; 8(9):677-82. PMID: 3211857.
      Citations: 1     Fields:    Translation:HumansCells
    240. Crane JP, Beaver HA, Cheung SW. First trimester chorionic villus sampling versus mid-trimester genetic amniocentesis--preliminary results of a controlled prospective trial. Prenat Diagn. 1988 Jun; 8(5):355-66. PMID: 3043414.
      Citations: 1     Fields:    Translation:HumansCTClinical Trials
    241. Crane JP, Cheung SW. An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue. Prenat Diagn. 1988 Feb; 8(2):119-29. PMID: 3362778.
      Citations: 12     Fields:    Translation:Humans
    242. Cheung SW, Crane JP, Beaver HA, Burgess AC. Chromosome mosaicism and maternal cell contamination in chorionic villi. Prenat Diagn. 1987 Oct; 7(8):535-42. PMID: 3684962.
      Citations: 2     Fields:    Translation:Humans
    243. Cheung SW, Crane JP, Johnson A, Simms L, Reid J. A simple method for preparing prometaphase chromosomes from amniotic fluid cell cultures. Prenat Diagn. 1987 Jul; 7(6):383-8. PMID: 3658911.
      Citations:    Fields:    Translation:HumansCells
    244. Cheung SW, Crane JP, Kyine M, Cui MY. Direct chromosome preparations from chorionic villi: a method for obtaining extended chromosomes and recognizing mosaicism confined to the placenta. Cytogenet Cell Genet. 1987; 45(2):118-20. PMID: 3622010.
      Citations:    Fields:    Translation:Humans
    245. Crane JP, Beaver HA, Cheung SW. Antenatal ultrasound findings in fetal triploidy syndrome. J Ultrasound Med. 1985 Oct; 4(10):519-24. PMID: 3903185.
      Citations: 2     Fields:    Translation:Humans
    246. Cheung SW, Crane JP, Burgess AC. High resolution R banding in amniotic fluid cells using the BrdU-Hoechst 33258-Giemsa (RBG) technique. Hum Genet. 1985; 69(1):86-7. PMID: 2578426.
      Citations:    Fields:    Translation:Humans
    247. Martinez F, Cheung SW, Crane JP, Arias F. Use of trophoblast cells in tissue culture for fetal chromosomal studies. Am J Obstet Gynecol. 1983 Nov 01; 147(5):542-7. PMID: 6356925.
      Citations: 1     Fields:    Translation:HumansCells
    248. Christian JC, Cheung SW, Kang K, Harmath FP, Huntzinger DJ, Powell RC. Variance of plasma free and esterified cholesterol in adult twins. Am J Hum Genet. 1976 Mar; 28(2):174-8. PMID: 178179; PMCID: PMC1684920.
      Citations: 5     Fields:    Translation:Humans
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