Christa Lese Martin
Christa Lese Martin
Associate Chief Scientific Officer, Geisinger; Professor and Director, Autism & Developmental
Verified email at geisinger.edu - Homepage
Title
Cited by
Cited by
Year
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
28852007
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
22462010
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
2012*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
20122013
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
17032013
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
14362007
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
1192*2011
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
9402012
Linkage, Association, and Gene-Expression Analyses Identify< i> CNTNAP2</i> as an Autism-Susceptibility Gene
M Alarcˇn, BS Abrahams, JL Stone, JA Duvall, JV Perederiy, JM Bomar, ...
The American Journal of Human Genetics 82 (1), 150-159, 2008
8652008
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 Medicalá…
SS Kalia, K Adelman, SJ Bale, WK Chung, C Eng, JP Evans, GE Herman, ...
Genetics in Medicine 19 (4), 484-485, 2017
851*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 Medicalá…
SS Kalia, K Adelman, SJ Bale, WK Chung, C Eng, JP Evans, GE Herman, ...
Genetics in Medicine 19 (2), 249, 2017
8512017
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
8122015
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
S K÷hler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ...
Nucleic acids research 42 (D1), D966-D974, 2014
7292014
ClinGen—The Clinical Genome Resource
HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, ...
New England Journal of Medicine, 2015
5702015
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
4022006
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
3902011
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
3542012
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
3332000
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
2982007
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
D Moreno-De-Luca, JG Mulle, EB Kaminsky, SJ Sanders, SM Myers, ...
The American Journal of Human Genetics 87 (5), 618-630, 2010
2842010
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