Christa Lese-Martin

Christa Lese-Martin

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Christa Lese-Martin

Christa Lese-Martin

Publications by authors named "Christa Lese-Martin"

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63Publications

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Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics-Based Communities.

J Genet Couns 2018 04 13;27(2):470-480. Epub 2017 Nov 13.

Genomic Medicine Institute, Geisinger, 100 N Academy Ave, MC 26-20, Danville, PA, 17822, USA.

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http://dx.doi.org/10.1007/s10897-017-0170-zDOI Listing
April 2018

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

Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions.

Prenat Diagn 2017 Jan 29;37(1):37-42. Epub 2016 Nov 29.

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

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http://dx.doi.org/10.1002/pd.4963DOI Listing
January 2017

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

Am J Hum Genet 2016 09 25;99(3):540-554. Epub 2016 Aug 25.

Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Center for Autism Research and Treatment and Program in Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA 90095, USA; Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011063PMC
September 2016

Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence.

Annu Rev Genomics Hum Genet 2015 6;16:309-26. Epub 2015 May 6.

Autism & Developmental Medicine Institute, Geisinger Health System, Danville, Pennsylvania 17822; email:

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http://dx.doi.org/10.1146/annurev-genom-090413-025346DOI Listing
May 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

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

Loss of δ-catenin function in severe autism.

Nature 2015 Apr 25;520(7545):51-6. Epub 2015 Mar 25.

1] Center for Complex Disease Genomics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA [2] National Institute of Mental Health (NIMH) Autism Centers of Excellence (ACE) Genetics Consortium at the University of California, Los Angeles, Los Angeles, California 90095, USA.

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http://dx.doi.org/10.1038/nature14186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383723PMC
April 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

Rare copy number variation in cerebral palsy.

Eur J Hum Genet 2014 Jan 22;22(1):40-5. Epub 2013 May 22.

Robinson Institute, The University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2013.93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865415PMC
January 2014

5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.

Am J Med Genet A 2011 Jul 27;155A(7):1640-5. Epub 2011 May 27.

Department of Medicine, Methodist University Hospital/University of Tennessee Health Science Center, Memphis, 38104, USA.

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http://doi.wiley.com/10.1002/ajmg.a.34059
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http://dx.doi.org/10.1002/ajmg.a.34059DOI Listing
July 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

Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome.

Am J Med Genet A 2011 Apr 15;155A(4):805-10. Epub 2011 Mar 15.

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

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http://doi.wiley.com/10.1002/ajmg.a.33917
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http://dx.doi.org/10.1002/ajmg.a.33917DOI Listing
April 2011

Chromosomal imbalances in oral squamous cell carcinoma: examination of 31 cell lines and review of the literature.

Oral Oncol 2008 Apr 2;44(4):369-82. Epub 2007 Aug 2.

Department of Human Genetics, University of Pittsburgh, Graduate School of Public Health, 130 DeSoto Street, Pittsburgh, PA 15261, United States.

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http://dx.doi.org/10.1016/j.oraloncology.2007.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2362065PMC
April 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

Genotype/phenotype correlations in two patients with 12q subtelomere deletions.

Am J Med Genet A 2007 Nov;143A(22):2700-5

Department of Human Genetics, Emory University School of Medicine, Decatur, GA 30033-5207, USA.

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http://dx.doi.org/10.1002/ajmg.a.32005DOI Listing
November 2007

3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism.

Eur J Hum Genet 2007 Oct 20;15(10):1098-101. Epub 2007 Jun 20.

Unit of Pediatrics and Medical Genetics, Department for Mental Retardation, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.

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http://dx.doi.org/10.1038/sj.ejhg.5201880DOI Listing
October 2007

Microarray analysis for constitutional cytogenetic abnormalities.

Genet Med 2007 Sep;9(9):654-62

Signature Genomic Laboratories, Spokane, Washington, USA.

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http://dx.doi.org/10.1097GIM.0b013e31814ce3d9DOI Listing
September 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

Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum.

Genet Med 2006 Jun;8(6):379-82

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

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http://dx.doi.org/10.109701.gim.0000223543.63104.5aDOI Listing
June 2006

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

A locus for bilateral perisylvian polymicrogyria maps to Xq28.

Am J Hum Genet 2002 Apr 29;70(4):1003-8. Epub 2002 Jan 29.

INSERM U491, Faculté de Médecine de La Timone, 27 Boulevard Jean Moulin, 13385 Marseille Cedex 5, France.

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http://dx.doi.org/10.1086/339433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379093PMC
April 2002

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