John D Overton

John D Overton

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John D Overton

John D Overton

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Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment.

Neurol Genet 2019 Oct 13;5(5):e358. Epub 2019 Sep 13.

Department of Medicine (J.P.), University of Pennsylvania, Philadelphia; Department of Surgery (S.M.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Regeneron Genetics Center (A.B., J.G.R., J.D.O.), Tarrytown, NY; and Department of Neurology (P.G.-A.), Perelman School of Medicine, University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1212/NXG.0000000000000358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745720PMC
October 2019

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Am J Hum Genet 2018 11 25;103(5):794-807. Epub 2018 Oct 25.

National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183035
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http://dx.doi.org/10.1016/j.ajhg.2018.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218603PMC
November 2018

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

Nat Commun 2018 06 13;9(1):2252. Epub 2018 Jun 13.

Regeneron Pharmaceuticals, Tarrytown, 10591, NY, USA.

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http://dx.doi.org/10.1038/s41467-018-04611-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5997992PMC
June 2018

Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.

Circ Genom Precis Med 2018 04;11(4):e001887

Department of Pediatrics (N.Z., C.W., L.M., U.K., E.B.R., W.K.C.), Herbert Irving Comprehensive Cancer Center (A.S., W.K.C.), and Department of Medicine (E.B.R., W.K.C.), Columbia University Medical Center, Department of Applied Physics and Applied Mathematics (H.Q.), Department of Systems Biology (N.Z., H.Q., Y.S.), and Department of Biomedical Informatics (Y.S.), Columbia University, New York, NY; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY (C.G.-J., A.K.K., J.G.R., J.D.O., A.B., F.D.); Department of Pediatric Cardiology, Children's Hospital Colorado, Denver (D.D.I.); Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN (E.D.A., R.H.); and Division of Human Genetics, Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, OH (W.C.N., M.W.P., K.A.L.).

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http://dx.doi.org/10.1161/CIRCGEN.117.001887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5896781PMC
April 2018

A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.

N Engl J Med 2018 03;378(12):1096-1106

From the Regeneron Genetics Center (N.S.A.-H., A.H.L., C.S., S. McCarthy, C.O., J.S.P., S.B., N.G., S. Mukherjee, A.E.L., E.D.F., J.P., I.B.B., A.R.S., J.G.R., J.D.O., O.G., T.M.T., A.B., F.E.D.) and Regeneron Pharmaceuticals (X. Cheng, Y.X., P.S., Y.L., D.E., S.Y.K., B.Z., W.O., A.J.M., G.D.Y., J.G.), Tarrytown, NY; the University of Texas Southwestern Medical Center at Dallas, Dallas (J.K., S.S., H.H.H., J.C.C.); and Geisinger Health System, Danville (G.C.W., A.N.S., M.D.S., X. Chu, J.Z.L., U.L.M., D.J.C., C.D.S., T.M.), and Perelman School of Medicine, University of Pennsylvania, Philadelphia (M.D.F., A.S., S.M.D., D.J.R.) - both in Pennsylvania.

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http://dx.doi.org/10.1056/NEJMoa1712191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6668033PMC
March 2018

Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish.

Diabetes 2017 07 20;66(7):2054-2058. Epub 2017 Apr 20.

Program in Personalized and Genomic Medicine, and Division of Endocrinology, Diabetes & Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore, MD

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http://dx.doi.org/10.2337/db17-0173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482078PMC
July 2017

Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.

N Engl J Med 2017 07 24;377(3):211-221. Epub 2017 May 24.

From Regeneron Genetics Center (F.E.D., C.O., C.S., O.G., S.M., C.V.V.H., S.B., L.H., A.L., J.P., N.S., A.J.M., J.D.O., J.G.R., A.R.S., I.B.B., T.M.T., G.D.Y., S.J.M., A. Baras) and Regeneron Pharmaceuticals (V.G., H.M.D., A.Z., W.S., N.S., A.J.M., S.H., A. Bouzelmat, R.Z., B.S., R.P., D.G., G.A.H., W.J.S., P.B., G.D.Y., S.J.M., J.G.) Tarrytown, NY; the Department of Medicine, Division of Translational Medicine and Human Genetics (R.L.D.), and Departments of Surgery (S.D.) and Genetics and Medicine (A.S., D.J.R.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, and Geisinger Health System, Danville (J.B.L., M.F.M., M.D.R., H.L.K., D.H.L., D.J.C.) - both in Pennsylvania; the Division of Endocrinology and Metabolism, Department of Internal Medicine (W.H.H.S., I.-T.L.) and Cardiovascular Center (K.-W.L.), Taichung Veterans General Hospital, Institute of Medical Technology, National Chung-Hsing University (W.H.H.S.), School of Medicine, Chung Shan Medical University (I.-T.L.), and the Department of Medicine, China Medical University (K.-W.L.), Taichung, and School of Medicine, National Yang-Ming University (W.H.H.S., I.-T.L., K.-W.L.), and School of Medicine, National Defense Medical Center (W.H.H.S.), Taipei - all in Taiwan; Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute and Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA (X.G., J.I.R., Y.-D.I.C.); the Division of Cardiology, Department of Medicine, Molecular Physiology Institute, School of Medicine, Duke University, Durham, NC (W.E.K., S.H.S.); the Department of Clinical Biochemistry, Rigshospitalet (A.B.W., B.G.N., A.T.-H.), the Copenhagen General Population Study (B.G.N., A.T.-H.) and Department of Clinical Biochemistry (B.G.N.), Herlev and Gentofte Hospital, and the Copenhagen City Heart Study, Frederiksberg Hospital, Copenhagen University Hospital, and Faculty of Health and Medical Sciences, University of Copenhagen (B.G.N., A.T.-H.) - all in Copenhagen; and TNO Metabolic Health Research, Gaubius Laboratory, Leiden, the Netherlands (A.M.H., H.M.G.P.).

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http://dx.doi.org/10.1056/NEJMoa1612790DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800308PMC
July 2017

INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES.

Pac Symp Biocomput 2016 ;21:168-79

Biomedical and Translational Informatics, Geisinger Health System, Danville, PA, USA3Center for Systems Genomics, The Pennsylvania State University, University Park, PA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4718547PMC
October 2016

Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.

N Engl J Med 2016 Mar 2;374(12):1123-33. Epub 2016 Mar 2.

From the Regeneron Genetics Center (F.E.D., C.O., O.G., C.V.V.H., L.H., J.P., A.L., I.B.B., J.D.O., J.G.R., A.J.M., G.D.Y., A.B., J.G., A.R.S.) and Regeneron Pharmaceuticals (V.G., J.T., C.H., D.B., K.-M.V.L., A.J.M., G.D.Y.) - both in Tarrytown, NY; and Geisinger Health System, Danville, PA (J.B.L., M.F.M., M.D.R., H.L.K., D.H.L., D.J.C.).

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http://dx.doi.org/10.1056/NEJMoa1510926DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900689PMC
March 2016

Measuring Absolute RNA Copy Numbers at High Temporal Resolution Reveals Transcriptome Kinetics in Development.

Cell Rep 2016 Jan 7;14(3):632-647. Epub 2016 Jan 7.

Program in Vertebrate Developmental Biology, Department of Pediatrics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA; Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA. Electronic address:

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http://www.cell.com/cell-reports/pdf/S2211-1247(15)01491-6.p
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http://linkinghub.elsevier.com/retrieve/pii/S221112471501491
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http://dx.doi.org/10.1016/j.celrep.2015.12.050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731879PMC
January 2016

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Neuron 2015 Nov;88(3):499-513

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; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08966273150083
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http://dx.doi.org/10.1016/j.neuron.2015.09.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824012PMC
November 2015

Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.

J Clin Endocrinol Metab 2015 Mar 9;100(3):E493-502. Epub 2014 Dec 9.

Yale Endocrine Neoplasia Laboratory (C.C.J., J.M.H., A.L.F., J.W.K., T.C.B., R.K., T.C.), Yale School of Medicine, New Haven, Connecticut 06520; Department of Surgery (C.C.J., J.M.H., A.L.F., J.W.K., T.C.B., R.K., T.C.), Yale School of Medicine, New Haven, Connecticut, 06520; Department of Genetics (G.G., C.N.W., M.C., R.P.L.), Yale School of Medicine and Howard Hughes Medical Institute, New Haven, Connecticut, 06520; Department of Oncology-Pathology (C.C.J., A.S., A.H., C.L.), Karolinska Institutet, Karolinska University Hospital, CCK, SE-171 76 Stockholm, Sweden; Yale Center for Genome Analysis (JDO, SMM), Orange, Connecticut, 06477; Department of Pathology (D.L.R., M.L.P.), Yale School of Medicine, New Haven, Connecticut, 06520; Department of Pharmacology (J.S.), Yale School of Medicine, New Haven, Connecticut 06520; Department of Molecular Medicine and Surgery (M.B.), Karolinska Institutet, Karolinska University Hospital, SE-171 76 Stockholm, Sweden; Division of Nephrology (U.I.S.), University Hospital Düsseldorf, 40225 Düsseldorf, Germany; Department of Pathology (A.C.S.), University Hospital Düsseldorf, 40225 Düsseldorf, Germany; and Division of Endocrinology and Diabetology (M.H.), University Hospital Düsseldorf, 40225 Düsseldorf, Germany.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2014-3282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393505PMC
March 2015

Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.

Proc Natl Acad Sci U S A 2015 Mar 18;112(13):4062-7. Epub 2015 Mar 18.

Departments of Genetics, Howard Hughes Medical Institute, Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, CT 06510; Internal Medicine,

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http://dx.doi.org/10.1073/pnas.1503696112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386328PMC
March 2015

Flexible and scalable genotyping-by-sequencing strategies for population studies.

BMC Genomics 2014 Nov 18;15:979. Epub 2014 Nov 18.

Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, CT 06511, USA.

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http://dx.doi.org/10.1186/1471-2164-15-979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253001PMC
November 2014

Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi.

J Invest Dermatol 2014 Apr 15;134(4):1149-1152. Epub 2013 Oct 15.

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X153672
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http://dx.doi.org/10.1038/jid.2013.430DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3961553PMC
April 2014

Molecular chaperone Hsp110 rescues a vesicle transport defect produced by an ALS-associated mutant SOD1 protein in squid axoplasm.

Proc Natl Acad Sci U S A 2013 Apr 18;110(14):5428-33. Epub 2013 Mar 18.

Department of Neurology, and F.M. Kirby Department of Neurobiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1073/pnas.1303279110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3619309PMC
April 2013

Mahoganoid and mahogany mutations rectify the obesity of the yellow mouse by effects on endosomal traffic of MC4R protein.

J Biol Chem 2011 May 1;286(21):18914-29. Epub 2011 Apr 1.

Division of Molecular Genetics, Department of Pediatrics, Naomi Berrie Diabetes Center and the Institute of Human Nutrition, Columbia University, New York, New York 10032, USA.

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http://dx.doi.org/10.1074/jbc.M111.224592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3099707PMC
May 2011