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Christa Lese Martin
Christa Lese Martin
Chief Scientific Officer, Geisinger; Professor and Director, Autism & Developmental
Email verificata su geisinger.edu - Home page
Titolo
Citata da
Citata da
Anno
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
34202007
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
31002010
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
2709*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
26932013
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
23152013
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
1682*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
16782017
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
1645*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
1494*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
14772013
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
14772012
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
14412015
ClinGen—The Clinical Genome Resource
HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, ...
New England Journal of Medicine, 2015
11402015
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
9952008
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
9792020
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
9092014
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
5172015
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
5022011
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
4622012
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
4552017
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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