TitleVisiting Assistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
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    Collapse Biography 
    Collapse awards and honors
    2010Texas Children's Hospital Medical Staff Award for the Best and Most Complete Resident or Fellow , Texas Children's Hospital
    2011 - 2014Clinical Scientist Development Award, Doris Duke Charitable Foundation
    2012Chao Physician Scientist Award, Ting Tsung and Wei Fong Chao Foundation
    2013William K. Bowes Jr. Award in Medical Genetics, Harvard Medical School & Partners Center for Personalized Genetic Medicine
    2014Fulbright & Jaworski LLP Faculty Excellence Award, Baylor College of Medicine

    Collapse Bibliographic 
    Collapse selected publications
    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.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    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. Riggs ER, Bingaman TI, Barry CA, Behlmann A, Bluske K, Bostwick B, Bright A, Chen CA, Clause AR, Dharmadhikari AV, Ganapathi M, Gonzaga-Jauregui C, Grant AR, Hughes MY, Kim SR, Krause A, Liao J, Lumaka A, Mah M, Maloney CM, Mohan S, Osei-Owusu IA, Reble E, Rennie O, Savatt JM, Shimelis H, Siegert RK, Sneddon TP, Thaxton C, Toner KA, Tran KT, Webb R, Wilcox EH, Yin J, Zhuo X, Znidarsic M, Martin CL, Betancur C, Vorstman JAS, Miller DT, Schaaf CP. Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels. Genet Med. 2022 May 25. PMID: 35616647.
      Citations:    Fields:    
    2. Bertacchi M, Tocco C, Schaaf CP, Studer M. Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome. Cells. 2022 04 08; 11(8). PMID: 35455940.
      Citations:    Fields:    Translation:HumansAnimals
    3. Hsieh TC, Bar-Haim A, Moosa S, Ehmke N, Gripp KW, Pantel JT, Danyel M, Mensah MA, Horn D, Rosnev S, Fleischer N, Bonini G, Hustinx A, Schmid A, Knaus A, Javanmardi B, Klinkhammer H, Lesmann H, Sivalingam S, Kamphans T, Meiswinkel W, Ebstein F, Krüger E, Küry S, Bézieau S, Schmidt A, Peters S, Engels H, Mangold E, Kreiß M, Cremer K, Perne C, Betz RC, Bender T, Grundmann-Hauser K, Haack TB, Wagner M, Brunet T, Bentzen HB, Averdunk L, Coetzer KC, Lyon GJ, Spielmann M, Schaaf CP, Mundlos S, Nöthen MM, Krawitz PM. GestaltMatcher facilitates rare disease matching using facial phenotype descriptors. Nat Genet. 2022 03; 54(3):349-357. PMID: 35145301.
      Citations: 1     Fields:    Translation:Humans
    4. Titgemeyer SC, Schaaf CP. Facebook Support Groups for Pediatric Rare Diseases: Cross-Sectional Study to Investigate Opportunities, Limitations, and Privacy Concerns. JMIR Pediatr Parent. 2022 Jan 06; 5(1):e31411. PMID: 34989690.
    5. Erhart P, Körfer D, Grond-Ginsbach C, Qiao JL, Bischoff MS, Hempel M, Schaaf CP, Grau A, Böckler D. Genetic Variation in LRP1 Associates with Stanford Type B Aortic Dissection Risk and Clinical Outcome. J Cardiovasc Dev Dis. 2022 Jan 05; 9(1). PMID: 35050224.
    6. Sakai Y, Okuzono S, Schaaf CP, Ohga S. Translational pediatrics: clinical perspective for Phelan-McDermid syndrome and autism research. Pediatr Res. 2021 Oct 26. PMID: 34702975.
      Citations:    Fields:    
    7. Lucas HM, Lewis AM, Lupo PJ, Schaaf CP. Parental perceptions of genetic testing for children with autism spectrum disorders. Am J Med Genet A. 2022 01; 188(1):178-186. PMID: 34562062.
      Citations:    Fields:    Translation:Humans
    8. Horak P, Leichsenring J, Goldschmid H, Kreutzfeldt S, Kazdal D, Teleanu V, Endris V, Gieldon L, Allgäuer M, Volckmar AL, Dikow N, Renner M, Kirchner M, Penzel R, Ploeger C, Brandt R, Seker-Cin H, Budczies J, Heilig CE, Neumann O, Schaaf CP, Schirmacher P, Fröhling S, Stenzinger A. Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine. Genes Chromosomes Cancer. 2022 Jun; 61(6):303-313. PMID: 34331337.
      Citations: 1     Fields:    Translation:Humans
    9. Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. J Med Genet. 2021 Jul 28. PMID: 34321323.
      Citations: 2     Fields:    
    10. Ludorf KL, Benjamin RH, Navarro Sanchez ML, McLean SD, Northrup H, Mitchell LE, Langlois PH, Canfield MA, Scheuerle AE, Scott DA, Schaaf CP, Ray JW, Oluwafemi O, Chen H, Swartz MD, Lupo PJ, Agopian AJ. Corrigendum to "Patterns of co-occurring birth defects among infants with hypospadias? [J Pediatr Urol 17 (2021) 64.e1-64.e8]. J Pediatr Urol. 2021 Aug; 17(4):e1. PMID: 34325994.
      Citations:    Fields:    
    11. Semino F, Schröter J, Willemsen MH, Bast T, Biskup S, Beck-Woedl S, Brennenstuhl H, Schaaf CP, Kölker S, Hoffmann GF, Haack TB, Syrbe S. Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder. Hum Mutat. 2021 09; 42(9):1094-1100. PMID: 34157790.
      Citations:    Fields:    Translation:Humans
    12. Benjamin RH, Scheuerle AE, Scott DA, Navarro Sanchez ML, Langlois PH, Canfield MA, Northrup H, Schaaf CP, Ray JW, McLean SD, Chen H, Swartz MD, Lupo PJ, Agopian AJ. Birth defect co-occurrence patterns in the Texas Birth Defects Registry. Pediatr Res. 2022 Apr; 91(5):1278-1285. PMID: 34193968.
      Citations:    Fields:    Translation:Humans
    13. Hebach NR, Caro P, Martin-Giacalone BA, Lupo PJ, Marbach F, Choukair D, Schaaf CP. A retrospective analysis of growth hormone therapy in children with Schaaf-Yang syndrome. Clin Genet. 2021 09; 100(3):298-307. PMID: 34013972.
      Citations:    Fields:    Translation:Humans
    14. Sanchez MLN, Benjamin RH, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scheuerle AE, Scott DA, Northrup H, Schaaf CP, Ray JW, McLean SD, Chen H, Lupo PJ, Agopian AJ. Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate. Cleft Palate Craniofac J. 2022 Apr; 59(4):417-426. PMID: 33906455.
      Citations:    Fields:    Translation:Humans
    15. Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH, Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. Genet Med. 2021 08; 23(8):1465-1473. PMID: 33833410.
      Citations: 1     Fields:    Translation:Humans
    16. Schaaf CP, Kölker S, Hoffmann GF. Genomic newborn screening: Proposal of a two-stage approach. J Inherit Metab Dis. 2021 05; 44(3):518-520. PMID: 33742709.
      Citations:    Fields:    Translation:HumansPHPublic Health
    17. Diaz D, Benjamin RH, Navarro Sanchez ML, Mitchell LE, Langlois PH, Canfield MA, Chen H, Scheuerle AE, Schaaf CP, Scott DA, Northrup H, Ray JW, McLean SD, Swartz MD, Ludorf KL, Lupo PJ, Agopian AJ. Patterns of congenital anomalies among individuals with trisomy 13 in Texas. Am J Med Genet A. 2021 06; 185(6):1787-1793. PMID: 33749998.
      Citations:    Fields:    Translation:Humans
    18. Stern T, Crutcher EH, McCarthy JM, Ali MA, Issachar G, Geva AB, Peremen Z, Schaaf CP. Brain Network Analysis of EEG Recordings Can Be Used to Assess Cognitive Function in Teenagers With 15q13.3 Microdeletion Syndrome. Front Neurosci. 2021; 15:622329. PMID: 33584189.
    19. Schraw JM, Benjamin RH, Scott DA, Brooks BP, Hufnagel RB, McLean SD, Northrup H, Langlois PH, Canfield MA, Scheuerle AE, Schaaf CP, Ray JW, Chen H, Swartz MD, Mitchell LE, Agopian AJ, Lupo PJ. A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia. Ophthalmic Epidemiol. 2021 10; 28(5):428-435. PMID: 33345678.
      Citations:    Fields:    Translation:Humans
    20. Titgemeyer SC, Schaaf CP. Facebook Support Groups for Rare Pediatric Diseases: Quantitative Analysis. JMIR Pediatr Parent. 2020 Nov 19; 3(2):e21694. PMID: 33211019.
      Citations: 7     
    21. Ludorf KL, Benjamin RH, Navarro Sanchez ML, McLean SD, Northrup H, Mitchell LE, Langlois PH, Canfield MA, Scheuerle AE, Scott DA, Schaaf CP, Ray JW, Oluwafemi O, Chen H, Swartz MD, Lupo PJ, Agopian AJ. Patterns of co-occurring birth defects among infants with hypospadias. J Pediatr Urol. 2021 02; 17(1):64.e1-64.e8. PMID: 33281045.
      Citations:    Fields:    Translation:Humans
    22. Mederer T, Schmitteckert S, Volz J, Martínez C, Röth R, Thumberger T, Eckstein V, Scheuerer J, Thöni C, Lasitschka F, Carstensen L, Günther P, Holland-Cunz S, Hofstra R, Brosens E, Rosenfeld JA, Schaaf CP, Schriemer D, Ceccherini I, Rusmini M, Tilghman J, Luzón-Toro B, Torroglosa A, Borrego S, Sze-Man Tang C, Garcia-Barceló M, Tam P, Paramasivam N, Bewerunge-Hudler M, De La Torre C, Gretz N, Rappold GA, Romero P, Niesler B. A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease. PLoS Genet. 2020 11; 16(11):e1009106. PMID: 33151932.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    23. Hirsch S, Gieldon L, Sutter C, Dikow N, Schaaf CP. Germline testing for homologous recombination repair genes-opportunities and challenges. Genes Chromosomes Cancer. 2021 05; 60(5):332-343. PMID: 33078493.
      Citations: 2     Fields:    Translation:HumansCells
    24. Marbach F, Elgizouli M, Rech M, Beygo J, Erger F, Velmans C, Stumpel CTRM, Stegmann APA, Beck-Wödl S, Gillessen-Kaesbach G, Horsthemke B, Schaaf CP, Kuechler A. The adult phenotype of Schaaf-Yang syndrome. Orphanet J Rare Dis. 2020 10 19; 15(1):294. PMID: 33076953.
      Citations: 2     Fields:    Translation:Humans
    25. Marbach F, Schaaf CP. Response to Briuglia et al. Genet Med. 2021 02; 23(2):423-424. PMID: 33012786.
      Citations:    Fields:    Translation:Humans
    26. Powell WT, Schaaf CP, Rech ME, Wrede J. Polysomnographic characteristics and sleep-disordered breathing in Schaaf-Yang syndrome. Pediatr Pulmonol. 2020 11; 55(11):3162-3167. PMID: 32889788.
      Citations:    Fields:    Translation:Humans
    27. Oluwafemi OO, Benjamin RH, Navarro Sanchez ML, Scheuerle AE, Schaaf CP, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scott DA, Northrup H, Ray JW, McLean SD, Ludorf KL, Chen H, Lupo PJ, Agopian AJ. Birth defects that co-occur with non-syndromic gastroschisis and omphalocele. Am J Med Genet A. 2020 11; 182(11):2581-2593. PMID: 32885608.
      Citations:    Fields:    Translation:Humans
    28. Yin J, Chun CA, Zavadenko NN, Pechatnikova NL, Naumova OY, Doddapaneni HV, Hu J, Muzny DM, Schaaf CP, Grigorenko EL. Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes (Basel). 2020 07 25; 11(8). PMID: 32722525.
      Citations: 4     Fields:    Translation:Humans
    29. Chen CA, Crutcher E, Gill H, Nelson TN, Robak LA, Jongmans MCJ, Pfundt R, Prasad C, Berard RA, Fannemel M, Frengen E, Misceo D, Ramsey K, Yang Y, Schaaf CP, Wang X. The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome. Hum Mutat. 2020 10; 41(10):1738-1744. PMID: 32643838.
      Citations: 1     Fields:    Translation:HumansCells
    30. Thomason MM, McCarthy J, Goin-Kochel RP, Dowell LR, Schaaf CP, Berry LN. Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome. J Autism Dev Disord. 2020 Jul; 50(7):2491-2500. PMID: 30343463.
      Citations: 2     Fields:    Translation:Humans
    31. Schaaf CP, Betancur C, Yuen RKC, Parr JR, Skuse DH, Gallagher L, Bernier RA, Buchanan JA, Buxbaum JD, Chen CA, Dies KA, Elsabbagh M, Firth HV, Frazier T, Hoang N, Howe J, Marshall CR, Michaud JL, Rennie O, Szatmari P, Chung WK, Bolton PF, Cook EH, Scherer SW, Vorstman JAS. A framework for an evidence-based gene list relevant to autism spectrum disorder. Nat Rev Genet. 2020 06; 21(6):367-376. PMID: 32317787.
      Citations: 18     Fields:    Translation:Humans
    32. Rech ME, McCarthy JM, Chen CA, Edmond JC, Shah VS, Bosch DGM, Berry GT, Williams L, Madan-Khetarpal S, Niyazov D, Shaw-Smith C, Kovar EM, Lupo PJ, Schaaf CP. Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. Am J Med Genet A. 2020 06; 182(6):1426-1437. PMID: 32275123.
      Citations: 6     Fields:    Translation:Humans
    33. Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, Pereira FA, Pautler RG, Zoghbi HY, Schaaf CP. Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. Hum Mol Genet. 2020 03 27; 29(5):705-715. PMID: 31600777.
      Citations: 3     Fields:    Translation:Animals
    34. Adang LA, Pizzino A, Malhotra A, Dubbs H, Williams C, Sherbini O, Anttonen AK, Lesca G, Linnankivi T, Laurencin C, Milh M, Perrine C, Schaaf CP, Poulat AL, Ville D, Hagelstrom T, Perry DL, Taft RJ, Goldstein A, Vossough A, Helbig I, Vanderver A. Phenotypic and Imaging Spectrum Associated With WDR45. Pediatr Neurol. 2020 08; 109:56-62. PMID: 32387008.
      Citations: 4     Fields:    Translation:Humans
    35. Chen CA, Pal R, Yin J, Tao H, Amawi A, Sabo A, Bainbridge MN, Gibbs RA, Zoghbi HY, Schaaf CP. Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Hum Mol Genet. 2020 02 01; 29(3):459-470. PMID: 31943016.
      Citations: 1     Fields:    Translation:HumansAnimals
    36. Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat. 2020 03; 41(3):632-640. PMID: 31696996.
      Citations: 4     Fields:    Translation:HumansCells
    37. Crutcher E, Pal R, Naini F, Zhang P, Laugsch M, Kim J, Bajic A, Schaaf CP. mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome. Sci Rep. 2019 11 04; 9(1):15935. PMID: 31685878.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    38. Ballinger EC, Schaaf CP, Patel AJ, de Maio A, Tao H, Talmage DA, Zoghbi HY, Role LW. Mecp2 Deletion from Cholinergic Neurons Selectively Impairs Recognition Memory and Disrupts Cholinergic Modulation of the Perirhinal Cortex. eNeuro. 2019 Nov/Dec; 6(6). PMID: 31562178.
      Citations: 8     Fields:    Translation:AnimalsCells
    39. Liu S, Tian M, He F, Li J, Xie H, Liu W, Zhang Y, Zhang R, Yi M, Che F, Ma X, Zheng Y, Deng H, Wang G, Chen L, Sun X, Xu Y, Wang J, Zang Y, Han M, Wang X, Guan H, Ge Y, Wu C, Wang H, Liang H, Li H, Ran N, Yang Z, Huang H, Wei Y, Zheng X, Sun X, Feng X, Zheng L, Zhu T, Luo W, Chen Q, Yan Y, Huang Z, Jing Z, Guo Y, Zhang X, Schaaf CP, Xing J, Wang C, Yu F, Guan JS. Mutations in ASH1L confer susceptibility to Tourette syndrome. Mol Psychiatry. 2020 02; 25(2):476-490. PMID: 31673123.
      Citations: 10     Fields:    Translation:HumansAnimals
    40. Benjamin RH, Yu X, Navarro Sanchez ML, Chen H, Mitchell LE, Langlois PH, Canfield MA, Swartz MD, Scheuerle AE, Scott DA, Northrup H, Schaaf CP, Ray JW, McLean SD, Lupo PJ, Agopian AJ. Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries. Birth Defects Res. 2019 11 01; 111(18):1356-1364. PMID: 31313535.
      Citations: 8     Fields:    Translation:Humans
    41. Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480. PMID: 31216405.
      Citations: 56     Fields:    Translation:Humans
    42. Erger F, Schaaf CP, Netzer C. Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. Mol Cell Probes. 2019 06; 45:84-88. PMID: 30914295.
      Citations: 3     Fields:    Translation:Humans
    43. Goin-Kochel RP, Scaglia F, Schaaf CP, Berry LN, Dang D, Nowel KP, Laakman AL, Dowell LR, Minard CG, Loh A, Beaudet AL. Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study. Glob Pediatr Health. 2019; 6:2333794X19830696. PMID: 30815516.
      Citations: 6     
    44. Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Genet Med. 2019 08; 21(8):1797-1807. PMID: 30679821.
      Citations: 10     Fields:    Translation:Humans
    45. Baraghithy S, Smoum R, Drori A, Hadar R, Gammal A, Hirsch S, Attar-Namdar M, Nemirovski A, Gabet Y, Langer Y, Pollak Y, Schaaf CP, Rech ME, Gross-Tsur V, Bab I, Mechoulam R, Tam J. Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity. J Bone Miner Res. 2019 01; 34(1):93-105. PMID: 30347474.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    46. McCarthy J, Lupo PJ, Kovar E, Rech M, Bostwick B, Scott D, Kraft K, Roscioli T, Charrow J, Schrier Vergano SA, Lose E, Smiegel R, Lacassie Y, Schaaf CP. Schaaf-Yang syndrome overview: Report of 78 individuals. Am J Med Genet A. 2018 12; 176(12):2564-2574. PMID: 30302899.
      Citations: 20     Fields:    Translation:Humans
    47. 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, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L, 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. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 03; 21(3):663-675. PMID: 30158690.
      Citations: 23     Fields:    Translation:Humans
    48. Gillentine MA, Lozoya R, Yin J, Grochowski CM, White JJ, Schaaf CP, Calarge CA. CHRNA7 copy number gains are enriched in adolescents with major depressive and anxiety disorders. J Affect Disord. 2018 10 15; 239:247-252. PMID: 30029151.
      Citations: 2     Fields:    Translation:Humans
    49. Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. Am J Hum Genet. 2018 07 05; 103(1):154-162. PMID: 29961569.
      Citations: 11     Fields:    Translation:HumansCells
    50. Gillentine MA, Lupo PJ, Stankiewicz P, Schaaf CP. An estimation of the prevalence of genomic disorders using chromosomal microarray data. J Hum Genet. 2018 Jul; 63(7):795-801. PMID: 29691480.
      Citations: 9     Fields:    Translation:Humans
    51. Bayat A, Bayat M, Lozoya R, Schaaf CP. Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum. Eur J Med Genet. 2018 Oct; 61(10):627-630. PMID: 29660409.
      Citations: 3     Fields:    Translation:Humans
    52. McCarthy JM, McCann-Crosby BM, Rech ME, Yin J, Chen CA, Ali MA, Nguyen HN, Miller JL, Schaaf CP. Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome. J Med Genet. 2018 05; 55(5):307-315. PMID: 29496979.
      Citations: 11     Fields:    Translation:Humans
    53. Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL, Zoghbi HY. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 02 22; 172(5):924-936.e11. PMID: 29474920.
      Citations: 44     Fields:    Translation:HumansAnimalsCells
    54. Martín-Hernández E, Rodríguez-García ME, Chen CA, Cotrina-Vinagre FJ, Carnicero-Rodríguez P, Bellusci M, Schaaf CP, Martínez-Azorín F. Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation. J Hum Genet. 2018 Apr; 63(4):525-528. PMID: 29410510.
      Citations: 8     Fields:    Translation:HumansCells
    55. Yin J, Chen W, Chao ES, Soriano S, Wang L, Wang W, Cummock SE, Tao H, Pang K, Liu Z, Pereira FA, Samaco RC, Zoghbi HY, Xue M, Schaaf CP. Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome. Am J Hum Genet. 2018 02 01; 102(2):296-308. PMID: 29395075.
      Citations: 19     Fields:    Translation:AnimalsCells
    56. Helgeson M, Keller-Ramey J, Knight Johnson A, Lee JA, Magner DB, Deml B, Deml J, Hu YY, Li Z, Donato K, Das S, Laframboise R, Tremblay S, Krantz I, Noon S, Hoganson G, Burton J, Schaaf CP, Del Gaudio D. Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. J Hum Genet. 2018 Mar; 63(3):349-356. PMID: 29279609.
      Citations: 5     Fields:    Translation:HumansCells
    57. Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438. PMID: 28973083.
      Citations: 126     Fields:    Translation:Humans
    58. Gillentine MA, Yin J, Bajic A, Zhang P, Cummock S, Kim JJ, Schaaf CP. Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells. Am J Hum Genet. 2017 Dec 07; 101(6):874-887. PMID: 29129316.
      Citations: 11     Fields:    Translation:HumansCells
    59. Jiang X, Chen J, Bajic A, Zhang C, Song X, Carroll SL, Cai ZL, Tang M, Xue M, Cheng N, Schaaf CP, Li F, MacKenzie KR, Ferreon ACM, Xia F, Wang MC, Maletic-Savatic M, Wang J. Corrigendum: Quantitative real-time imaging of glutathione. Nat Commun. 2017 10 03; 8:16163. PMID: 28972204.
      Citations: 1     Fields:    
    60. 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, Faivre L, Lefebvre M, 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. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83. PMID: 28934986.
      Citations: 28     Fields:    Translation:Humans
    61. Gillentine MA, White JJ, Grochowski CM, Lupski JR, Schaaf CP, Calarge CA. CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents. J Child Adolesc Psychopharmacol. 2017 Dec; 27(10):908-915. PMID: 28817303.
      Citations: 4     Fields:    Translation:Humans
    62. Leduc MS, Chao HT, Qu C, Walkiewicz M, Xiao R, Magoulas P, Pan S, Beuten J, He W, Bernstein JA, Schaaf CP, Scaglia F, Eng CM, Yang Y. Clinical and molecular characterization of de novo loss of function variants in HNRNPU. Am J Med Genet A. 2017 Oct; 173(10):2680-2689. PMID: 28815871.
      Citations: 14     Fields:    Translation:Humans
    63. Chen CA, Bosch DGM, Cho ScM MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FPM, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BBA, Schaaf C. CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med. 2017 08; 19(8):962. PMID: 28777376.
      Citations:    Fields:    
    64. Jiang X, Chen J, Bajic A, Zhang C, Song X, Carroll SL, Cai ZL, Tang M, Xue M, Cheng N, Schaaf CP, Li F, MacKenzie KR, Ferreon ACM, Xia F, Wang MC, Maletic-Savatic M, Wang J. Quantitative real-time imaging of glutathione. Nat Commun. 2017 07 13; 8:16087. PMID: 28703127.
      Citations: 47     Fields:    Translation:HumansCells
    65. Gillentine MA, Schaaf CP, Patel A. The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci. Am J Med Genet A. 2017 Sep; 173(9):2485-2488. PMID: 28631888.
      Citations:    Fields:    Translation:Humans
    66. Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet. 2017 Jun 01; 100(6):907-925. PMID: 28575647.
      Citations: 43     Fields:    Translation:HumansCells
    67. Chen CA, Yin J, Lewis RA, Schaaf CP. Genetic causes of optic nerve hypoplasia. J Med Genet. 2017 07; 54(7):441-449. PMID: 28501829.
      Citations: 12     Fields:    Translation:HumansAnimals
    68. Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26. PMID: 28327206.
      Citations: 86     Fields:    Translation:Humans
    69. Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet. 2017 Apr; 49(4):527-536. PMID: 28288114.
      Citations: 46     Fields:    Translation:HumansAnimals
    70. Wang X, Charng WL, Chen CA, Rosenfeld JA, Al Shamsi A, Al-Gazali L, McGuire M, Mew NA, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, Xia F, Plon SE, Lupski JR, Schaaf CP, Yang Y. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 Apr; 49(4):613-617. PMID: 28288113.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    71. Yin J, Chen W, Yang H, Xue M, Schaaf CP. Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes. Sci Rep. 2017 01 03; 7:39941. PMID: 28045139.
      Citations: 16     Fields:    Translation:Animals
    72. Yin J, Schaaf CP. Autism genetics - an overview. Prenat Diagn. 2017 Jan; 37(1):14-30. PMID: 27743394.
      Citations: 12     Fields:    Translation:Humans
    73. Aten E, Fountain MD, van Haeringen A, Schaaf CP, Santen GW. Imprinting: the Achilles heel of trio-based exome sequencing. Genet Med. 2016 11; 18(11):1163-1164. PMID: 27632685.
      Citations: 3     Fields:    Translation:Humans
    74. Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, Küry S, Besnard T, Isidor B, Latypova X, Bézieau S, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Schaaf CP, Walkiewicz MA. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 09 01; 99(3):720-727. PMID: 27545676.
      Citations: 19     Fields:    Translation:Humans
    75. Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genet Med. 2017 01; 19(1):45-52. PMID: 27195816.
      Citations: 37     Fields:    Translation:HumansCells
    76. Crutcher E, Ali M, Harrison J, Sovago J, Gomez-Mancilla B, Schaaf CP. Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome. J Autism Dev Disord. 2016 Apr; 46(4):1455-63. PMID: 26754479.
      Citations: 2     Fields:    Translation:HumansCells
    77. Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med. 2016 11; 18(11):1143-1150. PMID: 26986877.
      Citations: 19     Fields:    Translation:Humans
    78. Ziats MN, Goin-Kochel RP, Berry LN, Ali M, Ge J, Guffey D, Rosenfeld JA, Bader P, Gambello MJ, Wolf V, Penney LS, Miller R, Lebel RR, Kane J, Bachman K, Troxell R, Clark G, Minard CG, Stankiewicz P, Beaudet A, Schaaf CP. The complex behavioral phenotype of 15q13.3 microdeletion syndrome. Genet Med. 2016 11; 18(11):1111-1118. PMID: 26963284.
      Citations: 22     Fields:    Translation:HumansCells
    79. Isidor B, Küry S, Rosenfeld JA, Besnard T, Schmitt S, Joss S, Davies SJ, Lebel RR, Henderson A, Schaaf CP, Streff HE, Yang Y, Jain V, Chida N, Latypova X, Le Caignec C, Cogné B, Mercier S, Vincent M, Colin E, Bonneau D, Denommé AS, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Piton A, Dina C, Donnart A, Lindenbaum P, Charpentier E, Redon R, Iemura K, Ikeda M, Tanaka K, Bézieau S. De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. Hum Mutat. 2016 Apr; 37(4):354-8. PMID: 26751395.
      Citations: 20     Fields:    Translation:Humans
    80. Fountain MD, Schaaf CP. Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene. Diseases. 2016 Jan 13; 4(1). PMID: 28933382.
      Citations: 20     
    81. Hao YH, Fountain MD, Fon Tacer K, Xia F, Bi W, Kang SH, Patel A, Rosenfeld JA, Le Caignec C, Isidor B, Krantz ID, Noon SE, Pfotenhauer JP, Morgan TM, Moran R, Pedersen RC, Saenz MS, Schaaf CP, Potts PR. USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder. Mol Cell. 2015 Sep 17; 59(6):956-69. PMID: 26365382.
      Citations: 75     Fields:    Translation:HumansCells
    82. Gennarino VA, Alcott CE, Chen CA, Chaudhury A, Gillentine MA, Rosenfeld JA, Parikh S, Wheless JW, Roeder ER, Horovitz DD, Roney EK, Smith JL, Cheung SW, Li W, Neilson JR, Schaaf CP, Zoghbi HY. NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation. Elife. 2015 Aug 27; 4. PMID: 26312503.
      Citations: 38     Fields:    Translation:HumansCells
    83. Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. Hum Mutat. 2015 Nov; 36(11):1052-63. PMID: 26178382.
      Citations: 66     Fields:    Translation:Humans
    84. Fountain MD, Schaaf CP. MAGEL2 and Oxytocin-Implications in Prader-Willi Syndrome and Beyond. Biol Psychiatry. 2015 Jul 15; 78(2):78-80. PMID: 26092431.
      Citations: 5     Fields:    Translation:Animals
    85. Gillentine MA, Schaaf CP. The human clinical phenotypes of altered CHRNA7 copy number. Biochem Pharmacol. 2015 Oct 15; 97(4):352-362. PMID: 26095975.
      Citations: 41     Fields:    Translation:Humans
    86. Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation". Am J Med Genet A. 2015 Oct; 167A(10):2496. PMID: 26355286.
      Citations: 3     Fields:    
    87. Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation. Am J Med Genet A. 2015 Sep; 167A(9):2162-7. PMID: 25943046.
      Citations: 15     Fields:    Translation:Humans
    88. 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.
      Citations: 12     Fields:    Translation:HumansCells
    89. Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83. PMID: 25439098.
      Citations: 38     Fields:    Translation:HumansAnimalsCells
    90. Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R, Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 Oct; 16(10):751-8. PMID: 24651605.
      Citations: 79     Fields:    Translation:HumansCells
    91. Rathore GS, Schaaf CP, Stocco AJ. Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration. Mov Disord. 2014 Apr; 29(4):574-5. PMID: 24610255.
      Citations: 11     Fields:    Translation:Humans
    92. Schaaf CP. Nicotinic acetylcholine receptors in human genetic disease. Genet Med. 2014 Sep; 16(9):649-56. PMID: 24556925.
      Citations: 19     Fields:    Translation:HumansAnimals
    93. Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA, Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 06; 94(2):303-9. PMID: 24462372.
      Citations: 38     Fields:    Translation:HumansCells
    94. Soler-Alfonso C, Carvalho CM, Ge J, Roney EK, Bader PI, Kolodziejska KE, Miller RM, Lupski JR, Stankiewicz P, Cheung SW, Bi W, Schaaf CP. 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.
      Citations: 19     Fields:    Translation:HumansCells
    95. 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.
      Citations: 155     Fields:    Translation:HumansAnimalsCells
    96. Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet. 2013 Nov; 45(11):1405-8. PMID: 24076603.
      Citations: 110     Fields:    Translation:HumansCells
    97. Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, 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. 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.
      Citations: 60     Fields:    Translation:HumansCells
    98. Witsch J, Szafranski P, Chen CA, Immken L, Simpson Patel G, Hixson P, Cheung SW, Stankiewicz P, Schaaf CP. 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.
      Citations: 3     Fields:    Translation:Humans
    99. Heil KM, Schaaf CP. The genetics of Autism Spectrum Disorders--a guide for clinicians. Curr Psychiatry Rep. 2013 Jan; 15(1):334. PMID: 23250815.
      Citations: 24     Fields:    Translation:Humans
    100. 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.
      Citations: 20     Fields:    Translation:HumansCells
    101. 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.
      Citations: 8     Fields:    Translation:Humans
    102. 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.
      Citations: 44     Fields:    Translation:Humans
    103. Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M. Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. Am J Med Genet A. 2011 Jul; 155A(7):1597-604. PMID: 21671375.
      Citations: 20     Fields:    Translation:HumansAnimalsCells
    104. Schaaf CP, Zoghbi HY. Solving the autism puzzle a few pieces at a time. Neuron. 2011 Jun 09; 70(5):806-8. PMID: 21658575.
      Citations: 63     Fields:    
    105. Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet. 2011 Sep 01; 20(17):3366-75. PMID: 21624971.
      Citations: 74     Fields:    Translation:Humans
    106. 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.
      Citations: 1     Fields:    Translation:HumansCells
    107. Schaaf CP, Blazo M, Lewis RA, Tonini RE, Takei H, Wang J, Wong LJ, Scaglia F. Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations. Mol Genet Metab. 2011 Aug; 103(4):383-7. PMID: 21636302.
      Citations: 38     Fields:    Translation:Humans
    108. Schaaf CP, Wiszniewska J, Beaudet AL. Copy number and SNP arrays in clinical diagnostics. Annu Rev Genomics Hum Genet. 2011; 12:25-51. PMID: 21801020.
      Citations: 60     Fields:    Translation:HumansCells
    109. 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.
      Citations: 121     Fields:    Translation:HumansCells
    110. Schaaf CP, Goin-Kochel RP, Nowell KP, Hunter JV, Aleck KA, Cox S, Patel A, Bacino CA, Shinawi M. Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. Eur J Hum Genet. 2011 Feb; 19(2):152-6. PMID: 20959866.
      Citations: 22     Fields:    Translation:HumansCells
    111. 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.
      Citations: 57     Fields:    Translation:HumansCells
    112. 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.
      Citations: 66     Fields:    Translation:HumansCells
    113. Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol. 2009 Dec; 66(6):771-82. PMID: 20035514.
      Citations: 138     Fields:    Translation:HumansCells
    114. 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.
      Citations: 83     Fields:    Translation:Humans
    115. Madan P, Schaaf CP, Vardhan P, Bhayana S, Chandra P, Anderson KE. Hans Gunther and his disease. Photodermatol Photoimmunol Photomed. 2007 Dec; 23(6):261-3. PMID: 17986065.
      Citations:    Fields:    Translation:Humans
    116. Schaaf CP, Benzing J, Schmitt T, Erz DH, Tewes M, Bartram CR, Janssen JW. Novel interaction partners of the TPR/MET tyrosine kinase. FASEB J. 2005 Feb; 19(2):267-9. PMID: 15546961.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
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