Christine M Eng

Christine M Eng

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Christine M Eng

Christine M Eng

Publications by authors named "Christine M Eng"

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A Genocentric Approach to Discovery of Mendelian Disorders.

Am J Hum Genet 2019 Nov 24;105(5):974-986. Epub 2019 Oct 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6849092PMC
November 2019

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.

N Engl J Med 2019 01;380(2):201

Baylor College of Medicine, Houston, TX

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http://dx.doi.org/10.1056/NEJMc1814955DOI Listing
January 2019

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

N Engl J Med 2018 11 10;379(22):2131-2139. Epub 2018 Oct 10.

From Harvard Medical School (K.S., C.E., I.S.K., J.L., A.T.M., D.A.S.), Brigham and Women's Hospital (J.L.), and Massachusetts General Hospital (D.A.S.) - all in Boston; the National Institutes of Health Clinical Center (D.R.A., W.A.G., J.J.M., C.J.T.) and the National Human Genome Research Institute (A.L.W.), Bethesda, and the University of Maryland, College Park (A.M.C.-J., B.K., L.P.) - all in Maryland; Baylor College of Medicine, Houston (C.A.B., H.J.B., C.M.E., B.H.L., X.L., M.F.W., S.Y.); Stanford University, Stanford (J.A.B., C.R., M.T.W., E.A.A.), and the University of California, Los Angeles, Los Angeles (S.F.N., C.G.S.P.) - both in California; Vanderbilt University, Nashville (R.H., J.A.P.); HudsonAlpha Institute for Biotechnology, Huntsville, AL (H.J.J., E.A.W.); Oregon Health and Science University, Portland (D.M.K.); the Pacific Northwest National Laboratory, Richland, WA (T.O.M.); the University of Oregon, Eugene (J.H.P., M.W.); and Duke University, Durham, NC (V.S., N.M.W.).

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http://www.nejm.org/doi/10.1056/NEJMoa1714458
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http://dx.doi.org/10.1056/NEJMoa1714458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481166PMC
November 2018

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.

N Engl J Med 2018 Oct;379(14):1353-1362

From the Office of the Clinical Director, National Human Genome Research Institute, and the Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD (D.R.A.); and the Department of Molecular and Human Genetics, Baylor College of Medicine, and Baylor Genetics - both in Houston (C.M.E.).

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http://dx.doi.org/10.1056/NEJMra1711801DOI Listing
October 2018

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma.

Neurol Genet 2018 Aug 20;4(4):e248. Epub 2018 Jul 20.

Department of Molecular and Human Genetics (K.M., L.C.B., M.J., R.A.L., M.X., J.A.R., R.C., C.M.E., Y.Y., B.H.L., P.M.M., S.U.D.), Department of Neurology (J.J., D.V., P.M.M), and Department of Ophthalmology (R.A.L.), Baylor College of Medicine; Department of Pathology (G.N.F.), Department of Neuro-Oncology (M.P.-P.), and Department of Diagnostic Imaging (M.K.G.-M.), The University of Texas MD Anderson Cancer Center; Michael E. DeBakey VA Medical Center (P.M.M.); Baylor Genetics (C.M.E., Y.Y.); and Department of Medicine (S.U.D.), Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.1212/NXG.0000000000000248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055357PMC
August 2018

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.

Hum Genet 2018 Mar 19;137(3):257-264. Epub 2018 Mar 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.

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http://dx.doi.org/10.1007/s00439-018-1877-0DOI Listing
March 2018

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 Apr 24;60(4):212-216. Epub 2017 Jan 24.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.01.004DOI Listing
April 2017

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:
Asbjørg Stray-Pedersen Hanne Sørmo Sorte Pubudu Samarakoon Tomasz Gambin Ivan K Chinn Zeynep H Coban Akdemir Hans Christian Erichsen Lisa R Forbes Shen Gu Bo Yuan Shalini N Jhangiani Donna M Muzny Olaug Kristin Rødningen Ying Sheng Sarah K Nicholas Lenora M Noroski Filiz O Seeborg Carla M Davis Debra L Canter Emily M Mace Timothy J Vece Carl E Allen Harshal A Abhyankar Philip M Boone Christine R Beck Wojciech Wiszniewski Børre Fevang Pål Aukrust Geir E Tjønnfjord Tobias Gedde-Dahl Henrik Hjorth-Hansen Ingunn Dybedal Ingvild Nordøy Silje F Jørgensen Tore G Abrahamsen Torstein Øverland Anne Grete Bechensteen Vegard Skogen Liv T N Osnes Mari Ann Kulseth Trine E Prescott Cecilie F Rustad Ketil R Heimdal John W Belmont Nicholas L Rider Javier Chinen Tram N Cao Eric A Smith Maria Soledad Caldirola Liliana Bezrodnik Saul Oswaldo Lugo Reyes Francisco J Espinosa Rosales Nina Denisse Guerrero-Cursaru Luis Alberto Pedroza Cecilia M Poli Jose L Franco Claudia M Trujillo Vargas Juan Carlos Aldave Becerra Nicola Wright Thomas B Issekutz Andrew C Issekutz Jordan Abbott Jason W Caldwell Diana K Bayer Alice Y Chan Alessandro Aiuti Caterina Cancrini Eva Holmberg Christina West Magnus Burstedt Ender Karaca Gözde Yesil Hasibe Artac Yavuz Bayram Mehmed Musa Atik Mohammad K Eldomery Mohammad S Ehlayel Stephen Jolles Berit Flatø Alison A Bertuch I Celine Hanson Victor W Zhang Lee-Jun Wong Jianhong Hu Magdalena Walkiewicz Yaping Yang Christine M Eng Eric Boerwinkle Richard A Gibbs William T Shearer Robert Lyle Jordan S Orange James R Lupski

J Allergy Clin Immunol 2017 01 16;139(1):232-245. Epub 2016 Jul 16.

Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.05.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222743PMC
January 2017

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

N Engl J Med 2017 01 7;376(1):21-31. Epub 2016 Dec 7.

From the Departments of Molecular and Human Genetics (J.E.P., T.H., P.L., J.A.R., Z.H.C.A., M.W., W.B., R.X., F.X., A.L.B., D.M.M., R.A.G., C.M.E., V.R.S., C.A.S., S.E.P., Y.Y., J.R.L.) and Pediatrics (S.E.P., J.R.L.), Baylor Genetics (P.L., M.W., W.B., R.X., Y.D., F.X., R.A.G., C.M.E., Y.Y.), Program in Structural and Computational Biology and Molecular Biophysics (R.A.J.), and Human Genome Sequencing Center (D.M.M., R.A.G., E.B., S.E.P., J.R.L.), Baylor College of Medicine, the Human Genetics Center, University of Texas Health Science Center (E.B.), and the Department of Pediatrics (S.E.P., J.R.L.) and Texas Children's Cancer Center (S.E.P.), Texas Children's Hospital - all in Houston.

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http://dx.doi.org/10.1056/NEJMoa1516767DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5335876PMC
January 2017

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 08 12;170(8):2181-5. Epub 2016 May 12.

Department of Pediatrics, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.37727DOI Listing
August 2016

Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.

Cold Spring Harb Perspect Med 2015 Aug 7;5(10). Epub 2015 Aug 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030.

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http://dx.doi.org/10.1101/cshperspect.a023077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588135PMC
August 2015

Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients.

Genome Med 2014 17;6(9):69. Epub 2014 Sep 17.

Texas Children's Cancer Center, 6701 Fannin Street #1400, Houston, TX 77030 USA ; Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 USA ; Dan L. Duncan Cancer Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 USA ; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 USA ; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 USA.

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http://genomemedicine.com/content/pdf/s13073-014-0069-3.pdf
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http://genomemedicine.com/content/6/9/69
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http://dx.doi.org/10.1186/s13073-014-0069-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4195891PMC
October 2014

Genetic diagnosis through whole-exome sequencing.

N Engl J Med 2014 03;370(11):1068

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http://dx.doi.org/10.1056/NEJMc1315908DOI Listing
March 2014

Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.

Am J Med Genet A 2013 Dec 16;161A(12):3182-6. Epub 2013 Aug 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Krannert Institute of Cardiology, Indiana University School of Medicine, Indianapolis, Indiana; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.

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http://dx.doi.org/10.1002/ajmg.a.36178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3926511PMC
December 2013

Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene.

J Cyst Fibros 2013 May 19;12(3):290-4. Epub 2012 Sep 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX77030, United States.

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http://dx.doi.org/10.1016/j.jcf.2012.08.017DOI Listing
May 2013

A novel STXBP1 mutation causes focal seizures with neonatal onset.

J Child Neurol 2012 Jun;27(6):811-4

Department of Molecular and Human Genetics, Baylor College of Medicine, TX 77030, USA.

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http://dx.doi.org/10.1177/0883073811435246DOI Listing
June 2012

Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis.

Prenat Diagn 2012 Apr;32(4):315-20

Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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https://pdfs.semanticscholar.org/1278/4e60f31ef724bc8a9f57cd
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https://www.researchgate.net/profile/Arie_Smits/publication/
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http://dx.doi.org/10.1002/pd.3860DOI Listing
April 2012

Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation.

Int J Pediatr Endocrinol 2011 6;2011(1). Epub 2011 Jul 6.

Endocrinology section-Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1186/1687-9856-2011-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159139PMC
November 2011

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.

J Hum Genet 2011 Jul 19;56(7):516-23. Epub 2011 May 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/jhg.2011.51DOI Listing
July 2011

Regional genomic instability predisposes to complex dystrophin gene rearrangements.

Hum Genet 2009 Sep 16;126(3):411-23. Epub 2009 May 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s00439-009-0679-9DOI Listing
September 2009

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.

Pediatr Res 2008 Nov;64(5):550-5

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1203/PDR.0b013e318183f132DOI Listing
November 2008

Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives.

Genet Med 2008 Jan;10(1):13-8

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31815f1ddbDOI Listing
January 2008

Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis.

Expert Rev Mol Diagn 2005 Nov;5(6):883-92

Department of Molecular & Human Genetics, Baylor College of Medicine, NAB2015, Houston, TX 77030, USA.

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http://dx.doi.org/10.1586/14737159.5.6.883DOI Listing
November 2005

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

Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1097/01.gim.0000139508.61701.bdDOI Listing
February 2005