دنبال کردن
Christa Lese Martin
Christa Lese Martin
Chief Scientific Officer, Geisinger; Professor and Director, Autism & Developmental
ایمیل تأیید شده در geisinger.edu - صفحهٔ اصلی
عنوان
نقل شده توسط
نقل شده توسط
سال
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
35322007
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
32692010
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
2846*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
28282013
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
24222013
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
1782*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
17782017
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
1644*2007
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
16272012
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
16272012
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
15832015
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
1571*2011
ClinGen—The Clinical Genome Resource
HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, ...
New England Journal of Medicine, 2015
13552015
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
13352020
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
10462008
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
9482014
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
6262015
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
5772019
Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource
NT Strande, ER Riggs, AH Buchanan, O Ceyhan-Birsoy, M DiStefano, ...
The American Journal of Human Genetics 100 (6), 895-906, 2017
5352017
Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource
NT Strande, ER Riggs, AH Buchanan, O Ceyhan-Birsoy, M DiStefano, ...
The American Journal of Human Genetics 100 (6), 895-906, 2017
5352017
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مقاله‌ها 1–20