Christa Lese Martin

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Finansman sağlayan kuruluşun getirdiği zorunluluğa dayalı olarak

Katkıda bulunan yazarlar

David H. Ledbetter, PhD, FACMGProfessor, University of Florida College of Medicine-Jacksonvillejax.ufl.edu üzerinde doğrulanmış e-posta adresine sahip
Dan GeschwindDistinguished Professor of Neurology, Psychiatry and Human Genetics, UCLAmednet.ucla.edu üzerinde doğrulanmış e-posta adresine sahip
Marc S. WilliamsProfessor and Director Emeritus, Genomic Medicine Institute, Geisingergeisinger.edu üzerinde doğrulanmış e-posta adresine sahip
Andres Moreno-De-Luca, MD, MBA, D...Neuroradiologist, Assistant Professor, Kingston Health Sciences Centre, Queen’s Universityqueensu.ca üzerinde doğrulanmış e-posta adresine sahip
Stephan J. SandersProfessor, Oxford and UCSFucsf.edu üzerinde doğrulanmış e-posta adresine sahip
Daniel Moreno De Luca, MD MScCASA Research Chair, Associate Professor, University of Albertaualberta.ca üzerinde doğrulanmış e-posta adresine sahip
Matthew Stateucsfucsf.edu üzerinde doğrulanmış e-posta adresine sahip
William Andrew FaucettRetired, IRB Co-Chair, Geisinger Health Systemgeisinger.edu üzerinde doğrulanmış e-posta adresine sahip
Evan EichlerProfessor of Genome Sciences, University of Washingtongs.washington.edu üzerinde doğrulanmış e-posta adresine sahip
Christopher A WalshBoston Children's Hospitalchildrens.harvard.edu üzerinde doğrulanmış e-posta adresine sahip
James S SutcliffeAssociate Professor, Vanderbilt Universityvanderbilt.edu üzerinde doğrulanmış e-posta adresine sahip
Carlos CARDOSO, PhDINSERM - INMED, Marseille, Franceinserm.fr üzerinde doğrulanmış e-posta adresine sahip
Katie RuddMedical Director, ARUP Laboratoriesaruplab.com üzerinde doğrulanmış e-posta adresine sahip
Scherer, Stephen W.The Hospital for Sick Children, Genetics and Genome Biology Program, University of Torontosickkids.ca üzerinde doğrulanmış e-posta adresine sahip
Brett Abrahams, PhDAlbert Einstein College of Medicineeinstein.yu.edu üzerinde doğrulanmış e-posta adresine sahip
Stan NelsonProfessor of Human Genetics, UCLAucla.edu üzerinde doğrulanmış e-posta adresine sahip
Naomichi MatsumotoYokohama City Universityyokohama-cu.ac.jp üzerinde doğrulanmış e-posta adresine sahip
Vanessa L. HornerUniversity of Wisconsin-Madisonslh.wisc.edu üzerinde doğrulanmış e-posta adresine sahip
Camille RaginProfessor, Fox Chase Cancer Centerfccc.edu üzerinde doğrulanmış e-posta adresine sahip
Mario CáceresICREA Research Professor, Hospital del Mar Research Instituteicrea.cat üzerinde doğrulanmış e-posta adresine sahip

Takip et

Christa Lese Martin

Chief Scientific Officer, Geisinger; Professor and Director, Autism & Developmental

geisinger.edu üzerinde doğrulanmış e-posta adresine sahip - Ana Sayfa

Precision Health Human Genomics Cytogenomics Developmental Medicine Autism


Başlık Alıntılara göre sırala Yıla göre sırala Başlığa göre sırala	Alıntı yapanlar Alıntı yapanlar	Yıl
Strong association of de novo copy number mutations with autism J Sebat, B Lakshmi, D Malhotra, J Troge, C Lese-Martin, T Walsh, ... Science 316 (5823), 445-449, 2007	3429	2007
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies DT Miller, MP Adam, S Aradhya, LG Biesecker, AR Brothman, NP Carter, ... The American Journal of Human Genetics 86 (5), 749-764, 2010	3117	2010
CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing RC Green, JS Berg, WW Grody, SS Kalia, BR Korf, CL Martin, AL McGuire, ... Genetics in Medicine 19 (5), 606, 2017	2718*	2017
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing RC Green, JS Berg, WW Grody, SS Kalia, BR Korf, CL Martin, AL McGuire, ... Genetics in Medicine 15 (7), 565-574, 2013	2702	2013
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs SH Lee, S Ripke, BM Neale, SV Faraone, SM Purcell, RH Perlis, ... Nature genetics 45 (9), 984, 2013	2327	2013
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2. 0): a policy statement of the American College of Medical … SS Kalia, K Adelman, SJ Bale, WK Chung, C Eng, JP Evans, GE Herman, ... Genetics in Medicine 19 (4), 484-485, 2017	1694*	2017
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2. 0): a policy statement of the American College of Medical … SS Kalia, K Adelman, SJ Bale, WK Chung, C Eng, JP Evans, GE Herman, ... Genetics in Medicine 19 (2), 249, 2017	1690	2017
Mapping autism risk loci using genetic linkage and chromosomal rearrangements P Szatmari, AD Paterson, L Zwaigenbaum, W Roberts, J Brian, XQ Liu, ... Nature genetics 39 (3), 319-328, 2007	1649*	2007
Multiple recurrent de novo copy number variations (CNVs), including duplications of the 7q11. 23 Williams-Beuren syndrome region, are strongly associated with autism SJ Sanders, AG Ercan-Sencicek, V Hus, R Luo, MT Murtha, ... Neuron 70 (5), 863, 2011	1501*	2011
Chromosomal microarray versus karyotyping for prenatal diagnosis RJ Wapner, CL Martin, B Levy, BC Ballif, CM Eng, JM Zachary, M Savage, ... Obstetrical & Gynecological Survey 68 (4), 276-278, 2013	1488	2013
Chromosomal microarray versus karyotyping for prenatal diagnosis RJ Wapner, CL Martin, B Levy, BC Ballif, CM Eng, JM Zachary, M Savage, ... New England Journal of Medicine 367 (23), 2175-2184, 2012	1488	2012
Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci SJ Sanders, X He, AJ Willsey, AG Ercan-Sencicek, KE Samocha, ... Neuron 87 (6), 1215-1233, 2015	1452	2015
ClinGen—The Clinical Genome Resource HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, ... New England Journal of Medicine, 2015	1150	2015
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics … ER Riggs, EF Andersen, AM Cherry, S Kantarci, H Kearney, A Patel, ... Genetics in Medicine 22 (2), 245-257, 2020	1003	2020
Linkage, Association, and Gene-Expression Analyses Identify< i> CNTNAP2</i> as an Autism-Susceptibility Gene M Alarcón, BS Abrahams, JL Stone, JA Duvall, JV Perederiy, JM Bomar, ... The American Journal of Human Genetics 82 (1), 150-159, 2008	1000	2008
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ... Nucleic acids research 42 (D1), D966-D974, 2014	912	2014
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways C O'Dushlaine, L Rossin, PH Lee, L Duncan, NN Parikshak, S Newhouse, ... Nature neuroscience 18 (2), 199, 2015	519	2015
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities EB Kaminsky, V Kaul, J Paschall, DM Church, B Bunke, D Kunig, ... Genetics in medicine 13 (9), 777-784, 2011	502	2011
Common genetic variants, acting additively, are a major source of risk for autism L Klei, SJ Sanders, MT Murtha, V Hus, JK Lowe, AJ Willsey, ... Molecular autism 3 (1), 1, 2012	467	2012
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders DJ Weiner, EM Wigdor, S Ripke, RK Walters, JA Kosmicki, J Grove, ... Nature genetics 49 (7), 978, 2017	460	2017

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