Christa Lese Martin

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David H. Ledbetter, PhD, FACMGProfessor, University of Florida College of Medicine-JacksonvillePotvrđena adresa e-pošte na jax.ufl.edu
Dan GeschwindDistinguished Professor of Neurology, Psychiatry and Human Genetics, UCLAPotvrđena adresa e-pošte na mednet.ucla.edu
Marc S. WilliamsProfessor and Director Emeritus, Genomic Medicine Institute, GeisingerPotvrđena adresa e-pošte na geisinger.edu
Andres Moreno-De-Luca, MD, MBA, D...Neuroradiologist, Assistant Professor, Kingston Health Sciences Centre, Queen’s UniversityPotvrđena adresa e-pošte na queensu.ca
Stephan J. SandersProfessor, Oxford and UCSFPotvrđena adresa e-pošte na ucsf.edu
Daniel Moreno De Luca, MD MScCASA Research Chair, Associate Professor, University of AlbertaPotvrđena adresa e-pošte na ualberta.ca
Matthew StateucsfPotvrđena adresa e-pošte na ucsf.edu
William Andrew FaucettRetired, IRB Co-Chair, Geisinger Health SystemPotvrđena adresa e-pošte na geisinger.edu
Evan EichlerProfessor of Genome Sciences, University of WashingtonPotvrđena adresa e-pošte na gs.washington.edu
Christopher A WalshBoston Children's HospitalPotvrđena adresa e-pošte na childrens.harvard.edu
James S SutcliffeAssociate Professor, Vanderbilt UniversityPotvrđena adresa e-pošte na vanderbilt.edu
Carlos CARDOSO, PhDINSERM - INMED, Marseille, FrancePotvrđena adresa e-pošte na inserm.fr
Katie RuddMedical Director, ARUP LaboratoriesPotvrđena adresa e-pošte na aruplab.com
Scherer, Stephen W.The Hospital for Sick Children, Genetics and Genome Biology Program, University of TorontoPotvrđena adresa e-pošte na sickkids.ca
Brett Abrahams, PhDAlbert Einstein College of MedicinePotvrđena adresa e-pošte na einstein.yu.edu
Stan NelsonProfessor of Human Genetics, UCLAPotvrđena adresa e-pošte na ucla.edu
Naomichi MatsumotoYokohama City UniversityPotvrđena adresa e-pošte na yokohama-cu.ac.jp
Vanessa L. HornerUniversity of Wisconsin-MadisonPotvrđena adresa e-pošte na slh.wisc.edu
Camille RaginProfessor, Fox Chase Cancer CenterPotvrđena adresa e-pošte na fccc.edu
Mario CáceresICREA Research Professor, Hospital del Mar Research InstitutePotvrđena adresa e-pošte na icrea.cat

Prati

Christa Lese Martin

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

Potvrđena adresa e-pošte na geisinger.edu - Početna stranica

Precision Health Human Genomics Cytogenomics Developmental Medicine Autism


Naslov Poredaj po navodima Poredaj po godini Poredaj po naslovu	Citirano Citirano	Godina
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	3454	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	3166	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	2756*	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	2740	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	2350	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	1730*	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	1726	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	1654*	2007
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	1538	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	1538	2012
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	1517*	2011
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	1494	2015
ClinGen—The Clinical Genome Resource HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, ... New England Journal of Medicine, 2015	1191	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	1117	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	1020	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	914	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	524	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	500	2011
Meta-analysis and multidisciplinary consensus statement: Exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders S Srivastava, JA Love-Nichols, KA Dies, DH Ledbetter, CL Martin, ... Genetics in Medicine, 1, 2019	488	2019
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	474	2017

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