Christine Eng

MD
Chief Medical Officer, Chief Quality Officer

Dr. Christine Eng serves as the Chief Medical Officer and Chief Quality Officer at Baylor Genetics. In addition to her role at Baylor Genetics, Dr. Eng is a Professor at Baylor College of Medicine in Houston, TX, as well as a pediatrician, and medical geneticist.

Recognized for contributions to the implementation of genomics in clinical practice, Dr. Eng is the senior author of articles in the New England Journal of Medicine and the Journal of American Medical Association regarding exome sequencing. She serves as principal investigator of the genome sequencing core for the National Institutes of Health’s Undiagnosed Diseases Network, and was elected to the Board of Directors of the American Society of Human Genetics effective January 1, 2024.

Dr. Eng received her bachelor’s degree from Yale University in New Haven, CT. Following her bachelors, she received her medical degree from Tulane University in New Orleans, LA.

 

Position

Professor and Vice Chair (Diagnostics)
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, United States

Chief Medical Officer, Chief Quality Officer
Baylor Genetics
Houston, TX, United States

Education

MD from Tulane University
New Orleans, LA, United States

BA from Yale University
New Haven, CT, United States

Certifications

Clinical Molecular Genetics
American Board of Medical Genetics

General Pediatrics
American Board of Pediatrics

Publications
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory

Meng, L., Attali, R., Talmy, T., Regev, Y., Mizrahi, N., Smirin-Yosef, P., Vossaert, L., Taborda, C., Santana, M., Machol, I., Xiao, R., Dai, H., Eng, C., Xia, F., & Tzur, S. (2023). Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratoryGenetics in Medicine: Official Journal of the American College of Medical Genetics25(6), 100830. Advance online publication. PMID: 36939041.

Molecular findings among patients referred for clinical whole exome-sequencing

Yang, Y., Muzny, D. M., 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., … Eng, C. M. (2014). Molecular findings among patients referred for clinical whole-exome sequencing. JAMA312(18), 1870–1879. https://doi.org/10.1001/jama.2014.14601. PMID: 25326635.

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 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. Genet Med. 2020 Jun 24. PMID: 32576985

Contribution of uniparental disomy in a clinical trio exome cohort of 2,675 patients

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. Wang L, Liu P, Bi W, Sim T, Wang X, Walkiewicz M, Leduc MS, Meng L, Xia F, Eng CM, Yang Y, Yuan B, Dai H. Mol Genet Genomic Med. 2021 Sep 29; e1792. PMID: 34587367.

Sequencing individual genomes with recurrent deletions reveals allelic architecture and disease loci for autosomal recessive traits

Yuan, B., Schulze, K. V., Assia Batzir, N., Sinson, J., Dai, H., Zhu, W., Bocanegra, F., Fong, C. T., Holder, J., Nguyen, J., Schaaf, C. P., Yang, Y., Bi, W., Eng, C., Shaw, C., Lupski, J. R., & Liu, P. (2022). Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traitsGenome Medicine14(1), 113. PMID: 36180924.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencingx
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. Ye Cao, Mari J Tokita, Edward S Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz. Genome Med. 2019 Jul 26;11(1):48. PMID:  31349857
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Avinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E Posey, Allen H Jiang, Weimin He, Francesco Vetrini, Alicia A Braxton, Patricia Ward, Theodore Chiang, Chunjing Qu, Shen Gu, Chad A Shaw, Janice L Smith, Seema Lalani, Pawel Stankiewicz, Sau-Wai Cheung, Carlos A Bacino, Ankita Patel, Amy M Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna Muzny, Richard A Gibbs, Arthur L Beaudet, Christine M Eng, James R Lupski, Yaping Yang, Weimin Bi. Genome Med. 2019 May 17;11(1):30. PMID: 31101064
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Claudia MB Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J Turner, Rupa S Kanchi, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Pawel Stankiewicz, John W Belmont, Chad A Shaw, Sau Wai Cheung, Neil A Hanchard, V Reid Sutton, Patricia I Bader, James R Lupski. Genome Med. 2019 Apr 23;11(1):25. . PMID: 31014393
Reanalysis of Clinical Exome Sequencing Data

Reanalysis of Clinical Exome Sequencing Data. 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. N Engl J Med. 2019 Jun 20; 380(25):2478-2480. PMID: 31216405

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical exome sequencing reveals the locus heterogeneity and phenotypic variability of cohesinopathies. 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, DDD Study, Abid F, Bertuch A, Grange D, Immken L, Schaaf CP, Esch HV, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P. Genet Med. 2019 Mar; 21(3):663-675. PMID: 30158690

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

Nurit Assia Batzir, Christine M. Eng, Alica M. Goldman, Pranjali K. Bhagwat, Tanya N. Eble, Pengfei Liu, Laurie A. Robak, Fernando Scaglia, Sarah H. Elsea, Shweta U. Dhar, and Michael F. Wangler. De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Genome Med 11, 12. Jun 2019 PMID: 30850373

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu & Pawel Stankiewicz (2019). A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. Genome Med 11, 12. PMID: 31349857

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Vetrini, F., McKee, S., Rosenfeld, J.A., Suri, M., Lewis, A.M., Nugent, K.M., Roeder, E., Littlejohn, R.O., Holder, S., Zhu, W., Alaimo, J.T., Graham, B., Harris, J.M., Gibson, J.B., Pastore, M., McBride, K.L., Komara, M., Al-Gazali, L., Al Shamsi, A., Fanning, E.A., Wierenga, K.J., Scott, D.A., Ben-Neriah, Z., Meiner, V., Cassuto, H., Elpeleg, O., Holder, J.L., Jr., Burrage, L.C., Seaver, L.H., Van Maldergem, L., Mahida, S., Soul, J.S., Marlatt, M., Matyakhina, L., Vogt, J., Gold, J.A., Park, S.M., Varghese, V., Lampe, A.K., Kumar, A., Lees, M., Holder-Espinasse, M., McConnell, V., Bernhard, B., Blair, E., Harrison, V., study, D.D.D., Muzny, D.M., Gibbs, R.A., Elsea, S.H., Posey, J.E., Bi, W., Lalani, S., Xia, F., Yang, Y., Eng, C.M., Lupski, J.R., and Liu, P. (2019). De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med 11, 12. PMID: 30819258

Clinical and molecular characterization of de novo loss of function variants in HNRNPU

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 GenetA. 2017 [Epub ahead of print] PMID: 28815871

A phase II/III Clinical Study of Enzyme Replacement Therapy with Idursulfase in Mucopolysaccharidosis II (Hunter Syndrome)

Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, Vellodi A, Martin R, Ramaswami U, Gucsavas-Calikoglu M, Vijayaraghavan S, Wendt S, Wendt S, Puga AC, Puga A, Ulbrich B, Shinawi M, Cleary M, Piper D, Conway AM, Conway AM, Kimura A. “A phase II/III Clinical Study of Enzyme Replacement Therapy with Idursulfase in Mucopolysaccharidosis II (Hunter Syndrome).Genet. Med.. 2006 August;8(8):465-73. Pubmed PMID: 16912578

Safety and Efficacy of Velaglucerase Alfa in Gaucher Disease Type 1 Patients Previously Treated with Imiglucerase

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 March;88(3):172-8. Pubmed PMID: 23339116

Fabry Disease: Guidelines for the Evaluation and Management of Multi-organ System Involvement

Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR. “Fabry Disease: Guidelines for the Evaluation and Management of Multi-organ System Involvement.Genet. Med. 2006 September;8(9):539-48. Pubmed PMID: 16980809

Chromosomal Microarray Versus Karyotyping for Prenatal Diagnosis

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 December 6;367(23):2175-84. Pubmed PMID: 23215555

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Berryer, M. H., Hamdan, F. F., Klitten, L. L., Møller, R. S., Carmant, L., Schwartzentruber, J., Patry, L., Dobrzeniecka, S., Rochefort, D., Neugnot-Cerioli, M., Lacaille, J.-C., Niu, Z., Eng, C. M., Yang, Y., Palardy, S., Belhumeur, C., Rouleau, G. A., Tommerup, N., Immken, L., Beauchamp, M. H., Patel, G. S., Majewski, J., Tarnopolsky, M. A., Scheffzek, K., Hjalgrim, H., Michaud, J. L. and Di Cristo, G. (2013), Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency. Human Mutation, 34: 385–394. PMID: 23161826

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN copy-number and sequence variant analysis by massively parallel sequencing

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 SMN copy-number and sequence variant analysis by massively parallel sequencing. Genetics in Medicine. 2017. PMID: 28125085

Germline Mutations in ABL1 Cause an Autosomal Dominant Syndrome Characterized by Congenital Heart Defects and Skeletal Malformations

Wang X, Charng WL, Chen CA, Rosenfeld JA, Shamsi AMA, Gazali LA, McGuire M, Mew NA, Arnold G, Qu CJ, 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. PMID: 28288113

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

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; EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan., Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewicz MA. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 6;100(4):676. PMID: 28343629

Dissection of Disease Phenotypes of Multiple Genetic Causes

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. Dissection of Disease Phenotypes of Multiple Genetic Causes. N Engl J Med. 376(1):21-31, 2017. PMID: 27959697

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Posey, J. E., Harel, T., Liu, P., Rosenfeld, J. A., James, R. A., Coban Akdemir, Z. H., Walkiewicz, M., Bi, W., Xiao, R., Ding, Y., Xia, F., Beaudet, A. L., Muzny, D. M., Gibbs, R. A., Boerwinkle, E., Eng, C. M., Sutton, V. R., Shaw, C. A., Plon, S. E., Yang, Y., … Lupski, J. R. (2017) Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. New England Journal of Medicine, (1):21. PMID: 27959697

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.

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. 2016, Genet Med. epub. doi:10.1038/gim.2016.131

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans

Vetrini F, D’Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 6;99(4):886. PMID: 27616478

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

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. PMID: 27545676

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations

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 Feb 4;98(2):347-57. PMID: 26805781

Molecular diagnostic experience of whole-exome sequencing in adult patients

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. PMID: 26633545

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

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, featured article. PMID: 26637980

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

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. PMID: 24791903

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

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 casesPrenat. Diagn.. 2009 January;29(1):29-39. PMID: 19012303

Prenatal Diagnosis of Chromosomal Abnormalities Using Array-based Comparative Genomic Hybridization

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 November;8(11):719-27. Pubmed PMID: 17108764

Christine Eng

MD
Chief Medical Officer, Chief Quality Officer

Dr. Christine Eng serves as the Chief Medical Officer and Chief Quality Officer at Baylor Genetics. In addition to her role at Baylor Genetics, Dr. Eng is a Professor at Baylor College of Medicine in Houston, TX, as well as a pediatrician, and medical geneticist.

Recognized for contributions to the implementation of genomics in clinical practice, Dr. Eng is the senior author of articles in the New England Journal of Medicine and the Journal of American Medical Association regarding exome sequencing. She serves as principal investigator of the genome sequencing core for the National Institutes of Health’s Undiagnosed Diseases Network, and was elected to the Board of Directors of the American Society of Human Genetics effective January 1, 2024.

Dr. Eng received her bachelor’s degree from Yale University in New Haven, CT. Following her bachelors, she received her medical degree from Tulane University in New Orleans, LA.

 

Position

Professor and Vice Chair (Diagnostics)
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, United States

Chief Medical Officer, Chief Quality Officer
Baylor Genetics
Houston, TX, United States

Education

MD from Tulane University
New Orleans, LA, United States

BA from Yale University
New Haven, CT, United States

Certifications

Clinical Molecular Genetics
American Board of Medical Genetics

General Pediatrics
American Board of Pediatrics

Publications
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory

Meng, L., Attali, R., Talmy, T., Regev, Y., Mizrahi, N., Smirin-Yosef, P., Vossaert, L., Taborda, C., Santana, M., Machol, I., Xiao, R., Dai, H., Eng, C., Xia, F., & Tzur, S. (2023). Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratoryGenetics in Medicine: Official Journal of the American College of Medical Genetics25(6), 100830. Advance online publication. PMID: 36939041.

Molecular findings among patients referred for clinical whole exome-sequencing

Yang, Y., Muzny, D. M., 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., … Eng, C. M. (2014). Molecular findings among patients referred for clinical whole-exome sequencing. JAMA312(18), 1870–1879. https://doi.org/10.1001/jama.2014.14601. PMID: 25326635.

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 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. Genet Med. 2020 Jun 24. PMID: 32576985

Contribution of uniparental disomy in a clinical trio exome cohort of 2,675 patients

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. Wang L, Liu P, Bi W, Sim T, Wang X, Walkiewicz M, Leduc MS, Meng L, Xia F, Eng CM, Yang Y, Yuan B, Dai H. Mol Genet Genomic Med. 2021 Sep 29; e1792. PMID: 34587367.

Sequencing individual genomes with recurrent deletions reveals allelic architecture and disease loci for autosomal recessive traits

Yuan, B., Schulze, K. V., Assia Batzir, N., Sinson, J., Dai, H., Zhu, W., Bocanegra, F., Fong, C. T., Holder, J., Nguyen, J., Schaaf, C. P., Yang, Y., Bi, W., Eng, C., Shaw, C., Lupski, J. R., & Liu, P. (2022). Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traitsGenome Medicine14(1), 113. PMID: 36180924.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencingx
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. Ye Cao, Mari J Tokita, Edward S Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz. Genome Med. 2019 Jul 26;11(1):48. PMID:  31349857
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Avinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E Posey, Allen H Jiang, Weimin He, Francesco Vetrini, Alicia A Braxton, Patricia Ward, Theodore Chiang, Chunjing Qu, Shen Gu, Chad A Shaw, Janice L Smith, Seema Lalani, Pawel Stankiewicz, Sau-Wai Cheung, Carlos A Bacino, Ankita Patel, Amy M Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna Muzny, Richard A Gibbs, Arthur L Beaudet, Christine M Eng, James R Lupski, Yaping Yang, Weimin Bi. Genome Med. 2019 May 17;11(1):30. PMID: 31101064
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Claudia MB Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J Turner, Rupa S Kanchi, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Pawel Stankiewicz, John W Belmont, Chad A Shaw, Sau Wai Cheung, Neil A Hanchard, V Reid Sutton, Patricia I Bader, James R Lupski. Genome Med. 2019 Apr 23;11(1):25. . PMID: 31014393
Reanalysis of Clinical Exome Sequencing Data

Reanalysis of Clinical Exome Sequencing Data. 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. N Engl J Med. 2019 Jun 20; 380(25):2478-2480. PMID: 31216405

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical exome sequencing reveals the locus heterogeneity and phenotypic variability of cohesinopathies. 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, DDD Study, Abid F, Bertuch A, Grange D, Immken L, Schaaf CP, Esch HV, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P. Genet Med. 2019 Mar; 21(3):663-675. PMID: 30158690

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

Nurit Assia Batzir, Christine M. Eng, Alica M. Goldman, Pranjali K. Bhagwat, Tanya N. Eble, Pengfei Liu, Laurie A. Robak, Fernando Scaglia, Sarah H. Elsea, Shweta U. Dhar, and Michael F. Wangler. De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Genome Med 11, 12. Jun 2019 PMID: 30850373

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu & Pawel Stankiewicz (2019). A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. Genome Med 11, 12. PMID: 31349857

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

Vetrini, F., McKee, S., Rosenfeld, J.A., Suri, M., Lewis, A.M., Nugent, K.M., Roeder, E., Littlejohn, R.O., Holder, S., Zhu, W., Alaimo, J.T., Graham, B., Harris, J.M., Gibson, J.B., Pastore, M., McBride, K.L., Komara, M., Al-Gazali, L., Al Shamsi, A., Fanning, E.A., Wierenga, K.J., Scott, D.A., Ben-Neriah, Z., Meiner, V., Cassuto, H., Elpeleg, O., Holder, J.L., Jr., Burrage, L.C., Seaver, L.H., Van Maldergem, L., Mahida, S., Soul, J.S., Marlatt, M., Matyakhina, L., Vogt, J., Gold, J.A., Park, S.M., Varghese, V., Lampe, A.K., Kumar, A., Lees, M., Holder-Espinasse, M., McConnell, V., Bernhard, B., Blair, E., Harrison, V., study, D.D.D., Muzny, D.M., Gibbs, R.A., Elsea, S.H., Posey, J.E., Bi, W., Lalani, S., Xia, F., Yang, Y., Eng, C.M., Lupski, J.R., and Liu, P. (2019). De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med 11, 12. PMID: 30819258

Clinical and molecular characterization of de novo loss of function variants in HNRNPU

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 GenetA. 2017 [Epub ahead of print] PMID: 28815871

A phase II/III Clinical Study of Enzyme Replacement Therapy with Idursulfase in Mucopolysaccharidosis II (Hunter Syndrome)

Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, Vellodi A, Martin R, Ramaswami U, Gucsavas-Calikoglu M, Vijayaraghavan S, Wendt S, Wendt S, Puga AC, Puga A, Ulbrich B, Shinawi M, Cleary M, Piper D, Conway AM, Conway AM, Kimura A. “A phase II/III Clinical Study of Enzyme Replacement Therapy with Idursulfase in Mucopolysaccharidosis II (Hunter Syndrome).Genet. Med.. 2006 August;8(8):465-73. Pubmed PMID: 16912578

Safety and Efficacy of Velaglucerase Alfa in Gaucher Disease Type 1 Patients Previously Treated with Imiglucerase

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 March;88(3):172-8. Pubmed PMID: 23339116

Fabry Disease: Guidelines for the Evaluation and Management of Multi-organ System Involvement

Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR. “Fabry Disease: Guidelines for the Evaluation and Management of Multi-organ System Involvement.Genet. Med. 2006 September;8(9):539-48. Pubmed PMID: 16980809

Chromosomal Microarray Versus Karyotyping for Prenatal Diagnosis

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 December 6;367(23):2175-84. Pubmed PMID: 23215555

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Berryer, M. H., Hamdan, F. F., Klitten, L. L., Møller, R. S., Carmant, L., Schwartzentruber, J., Patry, L., Dobrzeniecka, S., Rochefort, D., Neugnot-Cerioli, M., Lacaille, J.-C., Niu, Z., Eng, C. M., Yang, Y., Palardy, S., Belhumeur, C., Rouleau, G. A., Tommerup, N., Immken, L., Beauchamp, M. H., Patel, G. S., Majewski, J., Tarnopolsky, M. A., Scheffzek, K., Hjalgrim, H., Michaud, J. L. and Di Cristo, G. (2013), Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency. Human Mutation, 34: 385–394. PMID: 23161826

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN copy-number and sequence variant analysis by massively parallel sequencing

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 SMN copy-number and sequence variant analysis by massively parallel sequencing. Genetics in Medicine. 2017. PMID: 28125085

Germline Mutations in ABL1 Cause an Autosomal Dominant Syndrome Characterized by Congenital Heart Defects and Skeletal Malformations

Wang X, Charng WL, Chen CA, Rosenfeld JA, Shamsi AMA, Gazali LA, McGuire M, Mew NA, Arnold G, Qu CJ, 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. PMID: 28288113

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

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; EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan., Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewicz MA. Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 6;100(4):676. PMID: 28343629

Dissection of Disease Phenotypes of Multiple Genetic Causes

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. Dissection of Disease Phenotypes of Multiple Genetic Causes. N Engl J Med. 376(1):21-31, 2017. PMID: 27959697

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Posey, J. E., Harel, T., Liu, P., Rosenfeld, J. A., James, R. A., Coban Akdemir, Z. H., Walkiewicz, M., Bi, W., Xiao, R., Ding, Y., Xia, F., Beaudet, A. L., Muzny, D. M., Gibbs, R. A., Boerwinkle, E., Eng, C. M., Sutton, V. R., Shaw, C. A., Plon, S. E., Yang, Y., … Lupski, J. R. (2017) Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. New England Journal of Medicine, (1):21. PMID: 27959697

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.

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. 2016, Genet Med. epub. doi:10.1038/gim.2016.131

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans

Vetrini F, D’Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 6;99(4):886. PMID: 27616478

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

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. PMID: 27545676

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations

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 Feb 4;98(2):347-57. PMID: 26805781

Molecular diagnostic experience of whole-exome sequencing in adult patients

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. PMID: 26633545

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

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, featured article. PMID: 26637980

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

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. PMID: 24791903

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

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 casesPrenat. Diagn.. 2009 January;29(1):29-39. PMID: 19012303

Prenatal Diagnosis of Chromosomal Abnormalities Using Array-based Comparative Genomic Hybridization

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 November;8(11):719-27. Pubmed PMID: 17108764