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CHRISTINE M. ENG

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
Address2450 Holcombe Blvd.
Room 0270J
Houston TX 77021
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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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    1. 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, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, 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. 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 Jun 28. PMID: 28660352.
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    2. Marom R, Jain M, Burrage LC, Song IW, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, Chen Y, Lu JT, Gibbs RA, Eng C, Yang Y, Rousseau J, de Vries BBA, Campeau PM, Lee B. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 Jun 25. PMID: 28649782.
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    3. 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 Mar 21; 9(1):26. PMID: 28327206.
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    4. Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogné B, Küry S, Besnard T, Isidor B, Bézieau S, Hazart I, Nagakura H, Immken LL, Littlejohn RO, Roeder E. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Mar 21. PMID: 28343629.
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    5. 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 Mar 13. PMID: 28288113.
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    6. Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AM, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, 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. 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 Mar 01. PMID: 28251352.
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    7. Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med. 2017 Jan 26. PMID: 28125085.
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    8. Hertecant J, Komara M, Nagi A, Al-Zaabi O, Fathallah W, Cui H, Yang Y, Eng CM, Al Sorkhy M, Ghattas MA, Al-Gazali L, Ali BR. A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins. Eur J Med Genet. 2017 Jan 24. PMID: 28126652.
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    9. Zastrow DB, Zornio PA, Dries A, Kohler J, Fernandez L, Waggott D, Walkiewicz M, Eng CM, Manning MA, Farrelly E. Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype. Cold Spring Harb Mol Case Stud. 2017 Jan; 3(1):a001388. PMID: 28050602.
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    10. Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31. PMID: 27959697.
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    11. Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2016 Nov 17. PMID: 27854360.
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    12. Meng L, Donti T, Xia F, Niu Z, Al Shamsi A, Hertecant J, Al-Jasmi F, Gibson JB, Nagakura H, Zhang J, He W, Eng C, Yang Y, Elsea SH. Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Am J Med Genet A. 2017 Feb; 173(2):460-470. PMID: 27860360.
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    13. Eldomery MK, Akdemir ZC, Vögtle FN, Charng WL, Mulica P, Rosenfeld JA, Gambin T, Gu S, Burrage LC, Al Shamsi A, Penney S, Jhangiani SN, Zimmerman HH, Muzny DM, Wang X, Tang J, Medikonda R, Ramachandran PV, Wong LJ, Boerwinkle E, Gibbs RA, Eng CM, Lalani SR, Hertecant J, Rodenburg RJ, Abdul-Rahman OA, Yang Y, Xia F, Wang MC, Lupski JR, Meisinger C, Sutton VR. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106. PMID: 27799064.
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    14. Potter SL, Venkatramani R, Wenderfer S, Graham BH, Vasudevan SA, Sher A, Wu H, Wheeler DA, Yang Y, Eng CM, Gibbs RA, Roy A, Plon SE, Parsons DW. Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. Pediatr Blood Cancer. 2016 Oct 17. PMID: 27748010.
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    15. Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJ. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2016 Sep 22. PMID: 27657687.
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    16. Lin FY, Bergstrom K, Person R, Bavle A, Ballester LY, Scollon S, Raesz-Martinez R, Jea A, Birchansky S, Wheeler DA, Berg SL, Chintagumpala MM, Adesina AM, Eng C, Roy A, Plon SE, Parsons DW. Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle. Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5):a001057. PMID: 27626068; PMCID: PMC5002928.
    17. 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 Sep 1; 99(3):720-7. PMID: 27545676; PMCID: PMC5011061 [Available on 03/01/17].
    18. Methner DN, Scherer SE, Welch K, Walkiewicz M, Eng CM, Belmont JW, Powell MC, Korchina V, Doddapaneni HV, Muzny DM, Gibbs RA, Wolf DA, Sanchez LA, Kahn R. Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. Genome Res. 2016 Sep; 26(9):1170-7. PMID: 27435932.
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    19. Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LT, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 Jan; 139(1):232-245. PMID: 27577878.
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    20. McGuire A, Moore Q, Majumder M, Walkiewicz M, Eng CM, Belmont JW, Nassef S, Darilek S, Rutherford K, Pereira S, Scherer SE, Sutton VR, Wolf D, Gibbs RA, Kahn R, Sanchez LA. The ethics of conducting molecular autopsies in the cases of sudden death in the young. Genome Res. 2016 Jul 13. PMID: 27412853.
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    21. Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bönnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. J Med Genet. 2017 Feb; 54(2):84-86. PMID: 27389779.
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    22. Leduc MS, Niu Z, Bi W, Zhu W, Miloslavskaya I, Chiang T, Streff H, Seavitt JR, Murray SA, Eng C, Chan A, Yang Y, Lalani SR. CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. Am J Med Genet A. 2016 Aug; 170(8):2206-11. PMID: 27250922.
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    23. Bi W, Glass IA, Muzny DM, Gibbs RA, Eng CM, Yang Y, Sun A. Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Am J Med Genet A. 2016 Aug; 170(8):2181-5. PMID: 27170158.
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    24. Zhang J, Lachance V, Schaffner A, Li X, Fedick A, Kaye LE, Liao J, Rosenfeld J, Yachelevich N, Chu ML, Mitchell WG, Boles RG, Moran E, Tokita M, Gorman E, Bagley K, Zhang W, Xia F, Leduc M, Yang Y, Eng C, Wong LJ, Schiffmann R, Diaz GA, Kornreich R, Thummel R, Wasserstein M, Yue Z, Edelmann L. A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects. PLoS Genet. 2016 Apr; 12(4):e1005848. PMID: 27120463; PMCID: PMC4847778.
    25. Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016; 7:10713. PMID: 26888176; PMCID: PMC4759630.
    26. James RA, Campbell IM, Chen ES, Boone PM, Rao MA, Bainbridge MN, Lupski JR, Yang Y, Eng CM, Posey JE, Shaw CA. A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Med. 2016; 8(1):13. PMID: 26838676; PMCID: PMC4736244.
    27. Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Hicks MJ, Eldin KW, Quintanilla NM, Adesina AM, Mohila CA, Whitehead W, Jea A, Vasudevan SA, Nuchtern JG, Ramamurthy U, McGuire AL, Hilsenbeck SG, Reid JG, Muzny DM, Wheeler DA, Berg SL, Chintagumpala MM, Eng CM, Gibbs RA, Plon SE. Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. JAMA Oncol. 2016 Jan 28. PMID: 26822237.
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    28. Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Jan 19. PMID: 26805781.
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    29. White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016; 8(1):3. PMID: 26739615.
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    30. Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 3; 97(6):904-13. PMID: 26637980.
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    31. Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, Plon SE. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 Jul; 18(7):678-85. PMID: 26633545; PMCID: PMC4892996 [Available on 01/01/17].
    32. McCullough LB, Slashinski MJ, McGuire AL, Street RL, Eng CM, Gibbs RA, Parsons DW, Plon SE. Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors. Pediatr Blood Cancer. 2016 Mar; 63(3):511-5. PMID: 26505993.
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    33. Westerfield LE, Stover SR, Mathur VS, Nassef SA, Carter TG, Yang Y, Eng CM, Van den Veyver IB. Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. Prenat Diagn. 2015 Oct; 35(10):1022-9. PMID: 26275793.
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    34. van den Veyver IB, Eng CM. Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders. Cold Spring Harb Perspect Med. 2015 Oct; 5(10). PMID: 26253094.
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    35. Bayer DK, Martinez CA, Sorte HS, Forbes LR, Demmler-Harrison GJ, Hanson IC, Pearson NM, Noroski LM, Zaki SR, Bellini WJ, Leduc MS, Yang Y, Eng CM, Patel A, Rodningen OK, Muzny DM, Gibbs RA, Campbell IM, Shaw CA, Baker MW, Zhang V, Lupski JR, Orange JS, Seeborg FO, Stray-Pedersen A. Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. Clin Exp Immunol. 2014 Dec; 178(3):459-69. PMID: 25046553; PMCID: PMC4238873.
    36. Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9. PMID: 25326635; PMCID: PMC4326249.
    37. 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 6; 95(5):579-83. PMID: 25439098; PMCID: PMC4225583.
    38. Scollon S, Bergstrom K, Kerstein RA, Wang T, Hilsenbeck SG, Ramamurthy U, Gibbs RA, Eng CM, Chintagumpala MM, Berg SL, McCullough LB, McGuire AL, Plon SE, Parsons DW. Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients. Genome Med. 2014; 6(9):69. PMID: 25317207; PMCID: PMC4195891.
    39. Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 1; 94(5):784-9. PMID: 24791903; PMCID: PMC4067559.
    40. Eng CM, Yang Y, Plon SE. Genetic diagnosis through whole-exome sequencing. N Engl J Med. 2014 Mar 13; 370(11):1068. PMID: 24620872.
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    41. Berg JS, Amendola LM, Eng C, Van Allen E, Gray SW, Wagle N, Rehm HL, DeChene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, Evans JP, Jarvik GP. Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med. 2013 Nov; 15(11):860-7. PMID: 24195999; PMCID: PMC3935342.
    42. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11. PMID: 24088041; PMCID: PMC4211433.
    43. Vatta M, Niu Z, Lupski JR, Putnam P, Spoonamore KG, Fang P, Eng CM, Willis AS. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A. 2013 Dec; 161A(12):3182-6. PMID: 23956205; PMCID: PMC3926511.
    44. Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA. Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Med. 2013; 5(6):57. PMID: 23806086; PMCID: PMC3706849.
    45. Liew WK, Ben-Omran T, Darras BT, Prabhu SP, De Vivo DC, Vatta M, Yang Y, Eng CM, Chung WK. Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. JAMA Neurol. 2013 Jun; 70(6):788-91. PMID: 23699708.
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    46. 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.
    47. Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P, Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E, Grabowski GA. Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol. 2013 Mar; 88(3):172-8. PMID: 23339116; PMCID: PMC3586535.
    48. Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat. 2013 Feb; 34(2):385-94. PMID: 23161826.
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    49. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012 Dec 6; 367(23):2175-84. PMID: 23215555; PMCID: PMC3549418.
    50. Tang S, Moonnumakal SP, Stevens B, Douglas G, Mason S, Schmitt ES, Eng CM, Katz M, Fang P. Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene. J Cyst Fibros. 2013 May; 12(3):290-4. PMID: 22998936.
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    51. Vatta M, Tennison MB, Aylsworth AS, Turcott CM, Guerra MP, Eng CM, Yang Y. A novel STXBP1 mutation causes focal seizures with neonatal onset. J Child Neurol. 2012 Jun; 27(6):811-4. PMID: 22596016.
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    52. Willis AS, van den Veyver I, Eng CM. Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis. Prenat Diagn. 2012 Apr; 32(4):315-20. PMID: 22467161.
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    74. Buyse IM, McCarthy SE, Lurix P, Pace RP, Vo D, Bartlett GA, Schmitt ES, Ward PA, Oermann C, Eng CM, Roa BB. Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation. Genet Med. 2004 Sep-Oct; 6(5):426-30. PMID: 15371908.
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    75. Glass RB, Astrin KH, Norton KI, Parsons R, Eng CM, Banikazemi M, Desnick RJ. Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes. J Comput Assist Tomogr. 2004 Mar-Apr; 28(2):158-68. PMID: 15091117.
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    76. Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, Kanzaki T, Enriquez AL, Eng CM, Tanaka H, Tei C, Desnick RJ. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int. 2003 Sep; 64(3):801-7. PMID: 12911529.
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    77. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ. Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. N Engl J Med. 2001 07 05; 345(1):9-16. PMID: 11439963.
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    78. Frustaci A, Chimenti C, Ricci R, Natale L, Russo MA, Pieroni M, Eng CM, Desnick RJ. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med. 2001 Jul 05; 345(1):25-32. PMID: 11439944.
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    79. Dong J, Katz DR, Eng CM, Kornreich R, Desnick RJ. Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. Mol Genet Metab. 2001 Jun; 73(2):160-3. PMID: 11386851.
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    80. Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L, Gass A, Winston J, Dikman S, Fallon JT, Brodie S, Stacy CB, Mehta D, Parsons R, Norton K, O'Callaghan M, Desnick RJ. A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet. 2001 Mar; 68(3):711-22. PMID: 11179018.
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    81. Eng CM, Desnick RJ. Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases. Adv Genet. 2001; 44:275-96. PMID: 11596990.
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    82. Ashley GA, Shabbeer J, Yasuda M, Eng CM, Desnick RJ. Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype. J Hum Genet. 2001; 46(4):192-6. PMID: 11322659.
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    83. Ashton-Prolla P, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med. 2000 Jul; 48(4):227-35. PMID: 10916280.
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    84. Topaloglu AK, Ashley GA, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ. Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. Mol Med. 1999 Dec; 5(12):806-11. PMID: 10666480; PMCID: PMC2230489.
    85. Ashton-Prolla P, Ashley GA, Giugliani R, Pires RF, Desnick RJ, Eng CM. Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG). Am J Med Genet. 1999 Jun 11; 84(5):420-4. PMID: 10360396.
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    86. Fodor FH, Eng CM. Molecular exclusion of haemoglobin SD disease by prenatal diagnosis. Prenat Diagn. 1999 Jan; 19(1):58-60. PMID: 10073909.
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    87. Fodor FH, Weston A, Bleiweiss IJ, McCurdy LD, Walsh MM, Tartter PI, Brower ST, Eng CM. Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients. Am J Hum Genet. 1998 Jul; 63(1):45-51. PMID: 9634504.
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    88. Eng CM, Schechter C, Robinowitz J, Fulop G, Burgert T, Levy B, Zinberg R, Desnick RJ. Prenatal genetic carrier testing using triple disease screening. JAMA. 1997 Oct 15; 278(15):1268-72. PMID: 9333269.
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    89. Medintz I, Levine L, McCurdy L, Chiriboga L, Kingston C, Crim D, Desnick RJ, Eng CM, Kobilinsky L. HLA-DQA1 and polymarker allele frequencies in two New York City Jewish populations. J Forensic Sci. 1997 Sep; 42(5):919-22. PMID: 9304843.
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    90. Caggana M, Ashley GA, Desnick RJ, Eng CM. Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1. Am J Med Genet. 1997 Aug 22; 71(3):329-35. PMID: 9268104.
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    92. Brown LK, Miller A, Bhuptani A, Sloane MF, Zimmerman MI, Schilero G, Eng CM, Desnick RJ. Pulmonary involvement in Fabry disease. Am J Respir Crit Care Med. 1997 Mar; 155(3):1004-10. PMID: 9116979.
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    93. Qu Y, Abdenur JE, Eng CM, Desnick RJ. Molecular prenatal diagnosis of glycogen storage disease type Ia. Prenat Diagn. 1996 Apr; 16(4):333-6. PMID: 8734807.
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    94. Davies JP, Eng CM, Hill JA, Malcolm S, MacDermot K, Winchester B, Desnick RJ. Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries. Eur J Hum Genet. 1996; 4(4):219-24. PMID: 8875188.
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    95. Eng CM, Slaugenhaupt SA, Blumenfeld A, Axelrod FB, Gusella JF, Desnick RJ. Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33. Am J Med Genet. 1995 Nov 20; 59(3):349-55. PMID: 8599360.
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    96. Eng CM, Niehaus DJ, Enriquez AL, Burgert TS, Ludman MD, Desnick RJ. Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene. Hum Mol Genet. 1994 Oct; 3(10):1795-9. PMID: 7531540.
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    97. Sherman JB, Raben N, Nicastri C, Argov Z, Nakajima H, Adams EM, Eng CM, Cowan TM, Plotz PH. Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency. Am J Hum Genet. 1994 Aug; 55(2):305-13. PMID: 8037209.
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    98. Eng CM, Desnick RJ. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Hum Mutat. 1994; 3(2):103-11. PMID: 7911050.
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    99. Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet. 1993 Dec; 53(6):1186-97. PMID: 7504405; PMCID: PMC1682507.
    100. Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA. Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am J Hum Genet. 1993 Jun; 52(6):1094-101. PMID: 8503443.
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    101. Eng CM, Durtschi BA, Zoghbi HY, Beaudet AL. Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum. Genomics. 1992 Nov; 14(3):813-5. PMID: 1294119.
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    102. Fisher EA, Desnick RJ, Gordon RE, Eng CM, Griepp R, Goldman ME. Fabry disease: an unusual cause of severe coronary disease in a young man. Ann Intern Med. 1992 Aug 01; 117(3):221-3. PMID: 1616216.
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    103. Sakuraba H, Eng CM, Desnick RJ, Bishop DF. Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease. Genomics. 1992 Apr; 12(4):643-50. PMID: 1315304.
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    104. von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hübner G, Olsen EG, Christomanou H, Kandolf R, Bishop DF, Desnick RJ. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med. 1991 Feb 07; 324(6):395-9. PMID: 1846223.
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    105. Eng CM, Kozak CA, Beaudet AL, Zoghbi HY. Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. Genomics. 1991 Feb; 9(2):278-82. PMID: 2004777.
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    106. Bernstein HS, Bishop DF, Astrin KH, Kornreich R, Eng CM, Sakuraba H, Desnick RJ. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. J Clin Invest. 1989 Apr; 83(4):1390-9. PMID: 2539398; PMCID: PMC303833.
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