David H Ledbetter

David H Ledbetter

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David H Ledbetter

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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

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

Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders.

JAMA 2017 06;317(24):2545-2546

Geisinger Health System, Danville, Pennsylvania.

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http://dx.doi.org/10.1001/jama.2017.7272DOI Listing
June 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

Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders.

Genet Med 2016 Apr 9;18(4):302-4. Epub 2015 Jul 9.

Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2015.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4823637PMC
April 2016

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.

JAMA Psychiatry 2016 Mar;73(3):275-83

Autism & Developmental Medicine Institute, Geisinger Health System, Danville, Pennsylvania2Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania.

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http://dx.doi.org/10.1001/jamapsychiatry.2015.2692DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5333489PMC
March 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

ClinGen--the Clinical Genome Resource.

N Engl J Med 2015 06 27;372(23):2235-42. Epub 2015 May 27.

From Harvard Medical School and Brigham and Women's Hospital and Partners HealthCare - all in Boston (H.L.R.); University of North Carolina, Chapel Hill (J.S.B., J.P.E.); National Human Genome Research Institute, National Institutes of Health (NIH) (L.D.B., E.M.R.), National Center for Biotechnology Information, National Library of Medicine, NIH (M.J.L., D.R.M., S.T.S.), and American College of Medical Genetics and Genomics (M.S.W.) - all in Bethesda, MD; Stanford University School of Medicine, Stanford (C.D.B.), and University of California, San Francisco, San Francisco (R.L.N.) - both in California; Geisinger Health System, Danville, PA (D.H.L., C.L.M.); and Baylor College of Medicine, Houston (S.E.P.).

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http://dx.doi.org/10.1056/NEJMsr1406261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4474187PMC
June 2015

Copy number variants, aneuploidies, and human disease.

Clin Perinatol 2015 Jun 1;42(2):227-42, vii. Epub 2015 Apr 1.

Geisinger Health System, Autism & Developmental Medicine Institute, 120 Hamm Drive, Lewisburg, PA 17837, USA.

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http://dx.doi.org/10.1016/j.clp.2015.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4459515PMC
June 2015

The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.

JAMA Psychiatry 2015 Feb;72(2):119-26

Autism and Developmental Medicine Institute, Geisinger Health System, Lewisburg, Pennsylvania2Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania4Program in Neuroscience, Bucknell University, Lewisburg, Pennsylvania.

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http://lawsonlab.wustl.edu/files/2015/09/DeLuca.pdf
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http://archpsyc.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamapsychiatry.2014.2147DOI Listing
February 2015

Molecular cytogenetic analysis of telomere rearrangements.

Curr Protoc Hum Genet 2015 Jan 20;84:8.11.1-15. Epub 2015 Jan 20.

Autism and Developmental Medicine Institute, Geisinger Health System, Danville, Pennsylvania.

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http://dx.doi.org/10.1002/0471142905.hg0811s84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4410364PMC
January 2015

Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis.

Curr Genet Med Rep 2014 18;2:146-150. Epub 2014 Jul 18.

Autism and Developmental Medicine Institute, Geisinger Health System, 120 Hamm Drive, Suite 2A, Lewisburg, PA 17837 USA.

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http://dx.doi.org/10.1007/s40142-014-0048-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129219PMC
July 2014

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

Eur J Hum Genet 2014 Mar 12;22(3):363-8. Epub 2013 Jun 12.

1] Inserm, U910, Faculté de Médecine de La Timone, Marseille, France [2] Aix Marseille Université, Faculté de Médecine, Marseille, France.

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http://dx.doi.org/10.1038/ejhg.2013.135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925263PMC
March 2014

Implementation of genomic medicine in a health care delivery system: a value proposition?

Am J Med Genet C Semin Med Genet 2014 Mar 11;166C(1):112-6. Epub 2014 Mar 11.

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http://doi.wiley.com/10.1002/ajmg.c.31392
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http://dx.doi.org/10.1002/ajmg.c.31392DOI Listing
March 2014

The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors.

Front Genet 2014 12;5:16. Epub 2014 Feb 12.

Division of Rheumatology, Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati OH, USA ; Department of Veterans Affairs, Veterans Affairs Medical Center - Cincinnati, Cincinnati OH, USA.

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http://dx.doi.org/10.3389/fgene.2014.00016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3921572PMC
February 2014

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Nucleic Acids Res 2014 Jan 11;42(Database issue):D966-74. Epub 2013 Nov 11.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, Université Paul Sabatier, Faculté de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine. Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada, Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada, Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds LS2 9NS, UK, MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK, The Jackson Laboratory, Bar Harbor, ME 04609, USA, Center for Molecular and Vascular Biology, University of Leuven, Belgium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, 24105 Kiel, Germany, NE Thames Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK, Drexel University College of Medicine, Philadelphia, PA 19102, USA, Department of Haematology, University of Cambridge and NHS Blood and Transplant Cambridge, CB2 0PT Cambridge, UK, Autism and Developmental Medicine Institute, Geisinger Health System

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http://dx.doi.org/10.1093/nar/gkt1026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965098PMC
January 2014

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.

Authors:
S Hong Lee Stephan Ripke Benjamin M Neale Stephen V Faraone Shaun M Purcell Roy H Perlis Bryan J Mowry Anita Thapar Michael E Goddard John S Witte Devin Absher Ingrid Agartz Huda Akil Farooq Amin Ole A Andreassen Adebayo Anjorin Richard Anney Verneri Anttila Dan E Arking Philip Asherson Maria H Azevedo Lena Backlund Judith A Badner Anthony J Bailey Tobias Banaschewski Jack D Barchas Michael R Barnes Thomas B Barrett Nicholas Bass Agatino Battaglia Michael Bauer Mònica Bayés Frank Bellivier Sarah E Bergen Wade Berrettini Catalina Betancur Thomas Bettecken Joseph Biederman Elisabeth B Binder Donald W Black Douglas H R Blackwood Cinnamon S Bloss Michael Boehnke Dorret I Boomsma Gerome Breen René Breuer Richard Bruggeman Paul Cormican Nancy G Buccola Jan K Buitelaar William E Bunney Joseph D Buxbaum William F Byerley Enda M Byrne Sian Caesar Wiepke Cahn Rita M Cantor Miguel Casas Aravinda Chakravarti Kimberly Chambert Khalid Choudhury Sven Cichon C Robert Cloninger David A Collier Edwin H Cook Hilary Coon Bru Cormand Aiden Corvin William H Coryell David W Craig Ian W Craig Jennifer Crosbie Michael L Cuccaro David Curtis Darina Czamara Susmita Datta Geraldine Dawson Richard Day Eco J De Geus Franziska Degenhardt Srdjan Djurovic Gary J Donohoe Alysa E Doyle Jubao Duan Frank Dudbridge Eftichia Duketis Richard P Ebstein Howard J Edenberg Josephine Elia Sean Ennis Bruno Etain Ayman Fanous Anne E Farmer I Nicol Ferrier Matthew Flickinger Eric Fombonne Tatiana Foroud Josef Frank Barbara Franke Christine Fraser Robert Freedman Nelson B Freimer Christine M Freitag Marion Friedl Louise Frisén Louise Gallagher Pablo V Gejman Lyudmila Georgieva Elliot S Gershon Daniel H Geschwind Ina Giegling Michael Gill Scott D Gordon Katherine Gordon-Smith Elaine K Green Tiffany A Greenwood Dorothy E Grice Magdalena Gross Detelina Grozeva Weihua Guan Hugh Gurling Lieuwe De Haan Jonathan L Haines Hakon Hakonarson Joachim Hallmayer Steven P Hamilton Marian L Hamshere Thomas F Hansen Annette M Hartmann Martin Hautzinger Andrew C Heath Anjali K Henders Stefan Herms Ian B Hickie Maria Hipolito Susanne Hoefels Peter A Holmans Florian Holsboer Witte J Hoogendijk Jouke-Jan Hottenga Christina M Hultman Vanessa Hus Andrés Ingason Marcus Ising Stéphane Jamain Edward G Jones Ian Jones Lisa Jones Jung-Ying Tzeng Anna K Kähler René S Kahn Radhika Kandaswamy Matthew C Keller James L Kennedy Elaine Kenny Lindsey Kent Yunjung Kim George K Kirov Sabine M Klauck Lambertus Klei James A Knowles Martin A Kohli Daniel L Koller Bettina Konte Ania Korszun Lydia Krabbendam Robert Krasucki Jonna Kuntsi Phoenix Kwan Mikael Landén Niklas Långström Mark Lathrop Jacob Lawrence William B Lawson Marion Leboyer David H Ledbetter Phil H Lee Todd Lencz Klaus-Peter Lesch Douglas F Levinson Cathryn M Lewis Jun Li Paul Lichtenstein Jeffrey A Lieberman Dan-Yu Lin Don H Linszen Chunyu Liu Falk W Lohoff Sandra K Loo Catherine Lord Jennifer K Lowe Susanne Lucae Donald J MacIntyre Pamela A F Madden Elena Maestrini Patrik K E Magnusson Pamela B Mahon Wolfgang Maier Anil K Malhotra Shrikant M Mane Christa L Martin Nicholas G Martin Manuel Mattheisen Keith Matthews Morten Mattingsdal Steven A McCarroll Kevin A McGhee James J McGough Patrick J McGrath Peter McGuffin Melvin G McInnis Andrew McIntosh Rebecca McKinney Alan W McLean Francis J McMahon William M McMahon Andrew McQuillin Helena Medeiros Sarah E Medland Sandra Meier Ingrid Melle Fan Meng Jobst Meyer Christel M Middeldorp Lefkos Middleton Vihra Milanova Ana Miranda Anthony P Monaco Grant W Montgomery Jennifer L Moran Daniel Moreno-De-Luca Gunnar Morken Derek W Morris Eric M Morrow Valentina Moskvina Pierandrea Muglia Thomas W Mühleisen Walter J Muir Bertram Müller-Myhsok Michael Murtha Richard M Myers Inez Myin-Germeys Michael C Neale Stan F Nelson Caroline M Nievergelt Ivan Nikolov Vishwajit Nimgaonkar Willem A Nolen Markus M Nöthen John I Nurnberger Evaristus A Nwulia Dale R Nyholt Colm O'Dushlaine Robert D Oades Ann Olincy Guiomar Oliveira Line Olsen Roel A Ophoff Urban Osby Michael J Owen Aarno Palotie Jeremy R Parr Andrew D Paterson Carlos N Pato Michele T Pato Brenda W Penninx Michele L Pergadia Margaret A Pericak-Vance Benjamin S Pickard Jonathan Pimm Joseph Piven Danielle Posthuma James B Potash Fritz Poustka Peter Propping Vinay Puri Digby J Quested Emma M Quinn Josep Antoni Ramos-Quiroga Henrik B Rasmussen Soumya Raychaudhuri Karola Rehnström Andreas Reif Marta Ribasés John P Rice Marcella Rietschel Kathryn Roeder Herbert Roeyers Lizzy Rossin Aribert Rothenberger Guy Rouleau Douglas Ruderfer Dan Rujescu Alan R Sanders Stephan J Sanders Susan L Santangelo Joseph A Sergeant Russell Schachar Martin Schalling Alan F Schatzberg William A Scheftner Gerard D Schellenberg Stephen W Scherer Nicholas J Schork Thomas G Schulze Johannes Schumacher Markus Schwarz Edward Scolnick Laura J Scott Jianxin Shi Paul D Shilling Stanley I Shyn Jeremy M Silverman Susan L Slager Susan L Smalley Johannes H Smit Erin N Smith Edmund J S Sonuga-Barke David St Clair Matthew State Michael Steffens Hans-Christoph Steinhausen John S Strauss Jana Strohmaier T Scott Stroup James S Sutcliffe Peter Szatmari Szabocls Szelinger Srinivasa Thirumalai Robert C Thompson Alexandre A Todorov Federica Tozzi Jens Treutlein Manfred Uhr Edwin J C G van den Oord Gerard Van Grootheest Jim Van Os Astrid M Vicente Veronica J Vieland John B Vincent Peter M Visscher Christopher A Walsh Thomas H Wassink Stanley J Watson Myrna M Weissman Thomas Werge Thomas F Wienker Ellen M Wijsman Gonneke Willemsen Nigel Williams A Jeremy Willsey Stephanie H Witt Wei Xu Allan H Young Timothy W Yu Stanley Zammit Peter P Zandi Peng Zhang Frans G Zitman Sebastian Zöllner Bernie Devlin John R Kelsoe Pamela Sklar Mark J Daly Michael C O'Donovan Nicholas Craddock Patrick F Sullivan Jordan W Smoller Kenneth S Kendler Naomi R Wray

Nat Genet 2013 Sep 11;45(9):984-94. Epub 2013 Aug 11.

The University of Queensland, Queensland Brain Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1038/ng.2711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3800159PMC
September 2013

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.

Lancet Neurol 2013 Apr 18;12(4):406-14. Epub 2013 Mar 18.

Autism and Developmental Medicine Institute, Geisinger Health System, Danville, PA 17822, USA.

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http://dx.doi.org/10.1016/S1474-4422(13)70011-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4013791PMC
April 2013

Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies.

Lancet Neurol 2012 Mar 18;11(3):283-92. Epub 2012 Jan 18.

Genomic Medicine Institute, Geisinger Health System, Danville, PA, USA.

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http://dx.doi.org/10.1016/S1474-4422(11)70287-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3296129PMC
March 2012

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

Hum Mol Genet 2011 Oct 4;20(19):3769-78. Epub 2011 Jul 4.

Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1093/hmg/ddr293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168286PMC
October 2011

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Neuron 2011 Jun;70(5):863-85

Program on Neurogenetics, Yale University School of Medicine, 230 South Frontage Road, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3939065PMC
June 2011

Segmental duplications mediate novel, clinically relevant chromosome rearrangements.

Hum Mol Genet 2009 Aug 14;18(16):2957-62. Epub 2009 May 14.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1093/hmg/ddp233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2714723PMC
August 2009

Chaos in the embryo.

Nat Med 2009 May;15(5):490-1

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http://www.nature.com/articles/nm0509-490
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http://dx.doi.org/10.1038/nm0509-490DOI Listing
May 2009

Cytogenetic technology--genotype and phenotype.

N Engl J Med 2008 Oct 10;359(16):1728-30. Epub 2008 Sep 10.

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http://www.nejm.org/doi/abs/10.1056/NEJMe0806570
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http://dx.doi.org/10.1056/NEJMe0806570DOI Listing
October 2008

Issues in genetic testing for ultra-rare diseases: background and introduction.

Genet Med 2008 May;10(5):309-13

Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181729d99DOI Listing
May 2008

Gene patenting and licensing: the role of academic researchers and advocacy groups.

Genet Med 2008 May;10(5):314-9

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.

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http://www.nature.com/doifinder/10.1097/GIM.0b013e3181729dab
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http://dx.doi.org/10.1097/GIM.0b013e3181729dabDOI Listing
May 2008

Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory.

Genet Med 2008 May;10(5):332-6

Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.

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http://dx.doi.org/10.1097/GIM.0b013e318172838dDOI Listing
May 2008

Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism.

Am J Med Genet A 2008 Jan;146A(2):247-50

Cytogenetic Laboratory, Operative Unit of Clinical Investigations, Humanitas Clinical Institute, IRCCS, Rozzano, Milan, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.32083
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http://dx.doi.org/10.1002/ajmg.a.32083DOI Listing
January 2008

Cryptic telomere imbalance: a 15-year update.

Am J Med Genet C Semin Med Genet 2007 Nov;145C(4):327-34

Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1002/ajmg.c.30149DOI Listing
November 2007

Autism and cytogenetic abnormalities: solving autism one chromosome at a time.

Curr Psychiatry Rep 2007 Apr;9(2):141-7

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

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April 2007

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Authors:
Peter Szatmari Andrew D Paterson Lonnie Zwaigenbaum Wendy Roberts Jessica Brian Xiao-Qing Liu John B Vincent Jennifer L Skaug Ann P Thompson Lili Senman Lars Feuk Cheng Qian Susan E Bryson Marshall B Jones Christian R Marshall Stephen W Scherer Veronica J Vieland Christopher Bartlett La Vonne Mangin Rhinda Goedken Alberto Segre Margaret A Pericak-Vance Michael L Cuccaro John R Gilbert Harry H Wright Ruth K Abramson Catalina Betancur Thomas Bourgeron Christopher Gillberg Marion Leboyer Joseph D Buxbaum Kenneth L Davis Eric Hollander Jeremy M Silverman Joachim Hallmayer Linda Lotspeich James S Sutcliffe Jonathan L Haines Susan E Folstein Joseph Piven Thomas H Wassink Val Sheffield Daniel H Geschwind Maja Bucan W Ted Brown Rita M Cantor John N Constantino T Conrad Gilliam Martha Herbert Clara Lajonchere David H Ledbetter Christa Lese-Martin Janet Miller Stan Nelson Carol A Samango-Sprouse Sarah Spence Matthew State Rudolph E Tanzi Hilary Coon Geraldine Dawson Bernie Devlin Annette Estes Pamela Flodman Lambertus Klei William M McMahon Nancy Minshew Jeff Munson Elena Korvatska Patricia M Rodier Gerard D Schellenberg Moyra Smith M Anne Spence Chris Stodgell Ping Guo Tepper Ellen M Wijsman Chang-En Yu Bernadette Rogé Carine Mantoulan Kerstin Wittemeyer Annemarie Poustka Bärbel Felder Sabine M Klauck Claudia Schuster Fritz Poustka Sven Bölte Sabine Feineis-Matthews Evelyn Herbrecht Gabi Schmötzer John Tsiantis Katerina Papanikolaou Elena Maestrini Elena Bacchelli Francesca Blasi Simona Carone Claudio Toma Herman Van Engeland Maretha de Jonge Chantal Kemner Frederieke Koop Frederike Koop Marjolein Langemeijer Marjolijn Langemeijer Channa Hijmans Channa Hijimans Wouter G Staal Gillian Baird Patrick F Bolton Michael L Rutter Emma Weisblatt Jonathan Green Catherine Aldred Julie-Anne Wilkinson Andrew Pickles Ann Le Couteur Tom Berney Helen McConachie Anthony J Bailey Kostas Francis Gemma Honeyman Aislinn Hutchinson Jeremy R Parr Simon Wallace Anthony P Monaco Gabrielle Barnby Kazuhiro Kobayashi Janine A Lamb Ines Sousa Nuala Sykes Edwin H Cook Stephen J Guter Bennett L Leventhal Jeff Salt Catherine Lord Christina Corsello Vanessa Hus Daniel E Weeks Fred Volkmar Maïté Tauber Eric Fombonne Andy Shih Kacie J Meyer

Nat Genet 2007 Mar 18;39(3):319-28. Epub 2007 Feb 18.

Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada.

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http://dx.doi.org/10.1038/ng1985DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867008PMC
March 2007

Diverse fates of paralogs following segmental duplication of telomeric genes.

Genomics 2004 Aug;84(2):239-47

Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1016/j.ygeno.2004.03.001DOI Listing
August 2004

Mitotic and meiotic instability of a telomere association involving the Y chromosome.

Am J Med Genet A 2004 Aug;129A(2):120-3

Genzyme Genetics, Orange, California 92868, USA.

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http://dx.doi.org/10.1002/ajmg.a.30146DOI Listing
August 2004

Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23.

Genomics 2003 Aug;82(2):238-44

Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1-12-4, Nagasaki 852-8523, Japan.

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August 2003

The evolutionary origin of human subtelomeric homologies--or where the ends begin.

Am J Hum Genet 2002 Apr 1;70(4):972-84. Epub 2002 Mar 1.

Department of Human Genetics, University of Chicago, 920 East 85th Street, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1086/339768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379127PMC
April 2002

Mutation screening and transmission disequilibrium study of ATP10C in autism.

Am J Med Genet 2002 Mar;114(2):137-43

Laboratory of Developmental Neuroscience, Child and Adolescent Psychiatry, Department of Psychiatry MC3077, University of Chicago, Chicago, Illinois 60637, USA.

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March 2002