Christa Lese Martin
Christa Lese Martin
Chief Scientific Officer, Geisinger; Professor and Director, Autism & Developmental
geisinger.edu üzerinde doğrulanmış e-posta adresine sahip - Ana Sayfa
Başlık
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
30142007
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
24052010
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
2051*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
20512013
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
14802007
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
13112013
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
1267*2011
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
1094*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
10942017
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
10272012
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
9512015
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
8882008
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
7632014
ClinGen—The Clinical Genome Resource
HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, ...
New England Journal of Medicine, 2015
6512015
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
4222011
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
JB Ravnan, JH Tepperberg, P Papenhausen, AN Lamb, J Hedrick, ...
Journal of Medical Genetics 43 (6), 478-489, 2006
4082006
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
3752012
American College of Medical Genetics and Genomics. 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, ...
Genet Med 15 (7), 565-574, 2013
3572013
An optimized set of human telomere clones for studying telomere integrity and architecture
SJL Knight, CM Lese, KS Precht, J Kuc, Y Ning, S Lucas, R Regan, ...
The American Journal of Human Genetics 67 (2), 320-332, 2000
3362000
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways†
Y Nishimura, CL Martin, A Vazquez-Lopez, SJ Spence, ...
Human Molecular Genetics 16 (14), 1682-1698, 2007
3072007
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