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 BG, Dr. Eng is a Professor at Baylor College of Medicine in Houston, TX, as well as a pediatrician, and medical geneticist.
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.
Furthermore, Dr. Eng has been recognized for contributions to the implementation of genomics in clinical practice. She is the senior author of articles in the New England Journal of Medicine and the Journal of American Medical Association regarding exome sequencing. In addition, she is the principal investigator of the genome sequencing core for the National Institutes of Health’s Undiagnosed Disease Network.
Position
Assistant Professor
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
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
Liu, P., Meng, L., Normand, E.A., Xia, F., Song, X., Ghazi, A., Rosenfeld, J., Magoulas, P.L., 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, P.J., Bernstein, J.A., Eble, T., Eroglu, Y., Erwin, D., Escobar, L., Gibson, J.B., Gripp, K., Kleppe, S., Koenig, M.K., Lewis, A.M., Natowicz, M., Mancias, P., Minor, L., Scaglia, F., Schaaf, C.P., Streff, H., Vernon, H., Uhles, C.L., Zackai, E.H., Wu, N., Sutton, V.R., Beaudet, A.L., Muzny, D., Gibbs, R.A., Posey, J.E., Lalani, S., Shaw, C., Eng, C.M., Lupski, J.R., and Yang, Y. (2019). Reanalysis of Clinical Exome Sequencing Data. N Engl J Med 380, 2478-2480. PMID: 31216405
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Yuan, B., Neira, J., Pehlivan, D., Santiago-Sim, T., Song, X., Rosenfeld, J., Posey, J.E., Patel, V., Jin, W., Adam, M.P., Baple, E.L., Dean, J., Fong, C.T., Hickey, S.E., Hudgins, L., Leon, E., Madan-Khetarpal, S., Rawlins, L., Rustad, C.F., Stray-Pedersen, A., Tveten, K., Wenger, O., Diaz, J., Jenkins, L., Martin, L., McGuire, M., Pietryga, M., Ramsdell, L., Slattery, L., Study, D.D.D., Abid, F., Bertuch, A.A., Grange, D., Immken, L., Schaaf, C.P., Van Esch, H., Bi, W., Cheung, S.W., Breman, A.M., Smith, J.L., Shaw, C., Crosby, A.H., Eng, C., Yang, Y., Lupski, J.R., Xiao, R., and Liu, P. (2019). Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med 21, 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
Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy
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
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 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 Jan 5;376(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
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics
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 Medicine. 2016 Feb 2;8(1):13. PMID: 26838676
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
Whole Exome Sequencing Identifies the First STRADA Point Mutation in a Patient with Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy Syndrome (PMSE).
Bi W, Glass IA, Muzny DM, Gibbs RA, Eng CM, Yang Y, Sun A. (2016). 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. 170(8):2181-2185. PMID: 27170158
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 cases. Prenat. Diagn.. 2009 January;29(1):29-39. PMID: 19012303
Pre and Postnatal Genetic Testing by Array-comparative Genomic Hybridization: Genetic Counseling Perspectives
Darilek S, Ward P, Pursley A, Plunkett K, Furman P, Magoulas P, Patel A, Cheung SW, Eng CM. Pre and Postnatal Genetic Testing by Array-comparative Genomic Hybridization: Genetic Counseling Perspectives. Genet. Med.. 2008 January;10(1):13-8. Pubmed PMID: 18197052
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 BG, Dr. Eng is a Professor at Baylor College of Medicine in Houston, TX, as well as a pediatrician, and medical geneticist.
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.
Furthermore, Dr. Eng has been recognized for contributions to the implementation of genomics in clinical practice. She is the senior author of articles in the New England Journal of Medicine and the Journal of American Medical Association regarding exome sequencing. In addition, she is the principal investigator of the genome sequencing core for the National Institutes of Health’s Undiagnosed Disease Network.
Position
Assistant Professor
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
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
Liu, P., Meng, L., Normand, E.A., Xia, F., Song, X., Ghazi, A., Rosenfeld, J., Magoulas, P.L., 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, P.J., Bernstein, J.A., Eble, T., Eroglu, Y., Erwin, D., Escobar, L., Gibson, J.B., Gripp, K., Kleppe, S., Koenig, M.K., Lewis, A.M., Natowicz, M., Mancias, P., Minor, L., Scaglia, F., Schaaf, C.P., Streff, H., Vernon, H., Uhles, C.L., Zackai, E.H., Wu, N., Sutton, V.R., Beaudet, A.L., Muzny, D., Gibbs, R.A., Posey, J.E., Lalani, S., Shaw, C., Eng, C.M., Lupski, J.R., and Yang, Y. (2019). Reanalysis of Clinical Exome Sequencing Data. N Engl J Med 380, 2478-2480. PMID: 31216405
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Yuan, B., Neira, J., Pehlivan, D., Santiago-Sim, T., Song, X., Rosenfeld, J., Posey, J.E., Patel, V., Jin, W., Adam, M.P., Baple, E.L., Dean, J., Fong, C.T., Hickey, S.E., Hudgins, L., Leon, E., Madan-Khetarpal, S., Rawlins, L., Rustad, C.F., Stray-Pedersen, A., Tveten, K., Wenger, O., Diaz, J., Jenkins, L., Martin, L., McGuire, M., Pietryga, M., Ramsdell, L., Slattery, L., Study, D.D.D., Abid, F., Bertuch, A.A., Grange, D., Immken, L., Schaaf, C.P., Van Esch, H., Bi, W., Cheung, S.W., Breman, A.M., Smith, J.L., Shaw, C., Crosby, A.H., Eng, C., Yang, Y., Lupski, J.R., Xiao, R., and Liu, P. (2019). Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med 21, 663-675. PMID: 30158690
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures
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A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
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Clinical and molecular characterization of de novo loss of function variants in HNRNPU
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A phase II/III Clinical Study of Enzyme Replacement Therapy with Idursulfase in Mucopolysaccharidosis II (Hunter Syndrome)
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Safety and Efficacy of Velaglucerase Alfa in Gaucher Disease Type 1 Patients Previously Treated with Imiglucerase
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Fabry Disease: Guidelines for the Evaluation and Management of Multi-organ System Involvement
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Chromosomal Microarray Versus Karyotyping for Prenatal Diagnosis
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Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency
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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
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Germline Mutations in ABL1 Cause an Autosomal Dominant Syndrome Characterized by Congenital Heart Defects and Skeletal Malformations
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Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
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Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy
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Dissection of Disease Phenotypes of Multiple Genetic Causes
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
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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.
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Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans
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De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive
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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations
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A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics
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Molecular diagnostic experience of whole-exome sequencing in adult patients
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Whole Exome Sequencing Identifies the First STRADA Point Mutation in a Patient with Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy Syndrome (PMSE).
Bi W, Glass IA, Muzny DM, Gibbs RA, Eng CM, Yang Y, Sun A. (2016). 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. 170(8):2181-2185. PMID: 27170158
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
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De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea
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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 cases. Prenat. Diagn.. 2009 January;29(1):29-39. PMID: 19012303
Pre and Postnatal Genetic Testing by Array-comparative Genomic Hybridization: Genetic Counseling Perspectives
Darilek S, Ward P, Pursley A, Plunkett K, Furman P, Magoulas P, Patel A, Cheung SW, Eng CM. Pre and Postnatal Genetic Testing by Array-comparative Genomic Hybridization: Genetic Counseling Perspectives. Genet. Med.. 2008 January;10(1):13-8. Pubmed PMID: 18197052
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