Christa L Martin

Christa L Martin

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Christa L Martin

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Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.

Cold Spring Harb Mol Case Stud 2018 02 1;4(1). Epub 2018 Feb 1.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts 02139, USA.

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http://dx.doi.org/10.1101/mcs.a002345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793773PMC
February 2018

ClinVar Is a Critical Resource to Advance Variant Interpretation.

Oncologist 2017 12 29;22(12):1562. Epub 2017 Aug 29.

Geisinger Health System, Danville, Pennsylvania, USA.

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http://dx.doi.org/10.1634/theoncologist.2017-0246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728032PMC
December 2017

Response to Biesecker.

Genet Med 2017 05 13;19(5):605. Epub 2017 Apr 13.

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

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http://dx.doi.org/10.1038/gim.2017.25DOI Listing
May 2017

Using ClinVar as a Resource to Support Variant Interpretation.

Curr Protoc Hum Genet 2016 Apr 1;89:8.16.1-8.16.23. Epub 2016 Apr 1.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/0471142905.hg0816s89DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832236PMC
April 2016

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

Signal-peptide-peptidase-like 2a is required for CD74 intramembrane proteolysis in human B cells.

Biochem Biophys Res Commun 2014 Aug 15;451(1):48-53. Epub 2014 Jul 15.

Biochemical Institute, Christian Albrechts University of Kiel, Kiel, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2014.07.051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4476656PMC
August 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

Large inverted duplications in the human genome form via a fold-back mechanism.

PLoS Genet 2014 Jan 30;10(1):e1004139. Epub 2014 Jan 30.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907307PMC
January 2014

Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities.

Genet Med 2013 Sep 4;15(9):706-12. Epub 2013 Apr 4.

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

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http://dx.doi.org/10.1038/gim.2013.36DOI Listing
September 2013

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

Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion.

Am J Med Genet A 2013 Apr 26;161A(4):845-9. Epub 2013 Feb 26.

Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, IL 60608, UWQ.

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http://doi.wiley.com/10.1002/ajmg.a.35754
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http://dx.doi.org/10.1002/ajmg.a.35754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3685481PMC
April 2013

Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2.

Am J Med Genet A 2012 Oct 10;158A(10):2616-20. Epub 2012 Sep 10.

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

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http://dx.doi.org/10.1002/ajmg.a.35594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3448788PMC
October 2012

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

The contribution of chromosomal abnormalities to congenital heart defects: a population-based study.

Pediatr Cardiol 2011 Dec 5;32(8):1147-57. Epub 2011 Jul 5.

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E-86, Atlanta, GA, USA.

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http://dx.doi.org/10.1007/s00246-011-0034-5DOI Listing
December 2011

Haplotype-based genomic sequencing of a chromosomal polymorphism in the white-throated sparrow (Zonotrichia albicollis).

J Hered 2011 Jul-Aug;102(4):380-90. Epub 2011 May 25.

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

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https://academic.oup.com/jhered/article-lookup/doi/10.1093/j
Publisher Site
http://dx.doi.org/10.1093/jhered/esr043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3113616PMC
October 2011

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

Evolution of a bitter taste receptor gene cluster in a New World sparrow.

Genome Biol Evol 2010 Jul 12;2:358-70. Epub 2010 Jul 12.

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

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http://dx.doi.org/10.1093/gbe/evq027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2942037PMC
July 2010

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

Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways.

Hum Mol Genet 2007 Jul 21;16(14):1682-98. Epub 2007 May 21.

Center for Autism Research and Treatment, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1093/hmg/ddm116DOI Listing
July 2007