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Matthew Lebo
Matthew Lebo
Brigham and Woman's Hospital, Harvard Medical School, Mass General Brigham
在 partners.org 的电子邮件经过验证
标题
引用次数
引用次数
年份
ClinGen—the clinical genome resource
HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, ...
New England Journal of Medicine 372 (23), 2235-2242, 2015
11832015
Polygenic prediction of weight and obesity trajectories from birth to adulthood
AV Khera, M Chaffin, KH Wade, S Zahid, J Brancale, R Xia, M Distefano, ...
Cell 177 (3), 587-596. e9, 2019
6322019
Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium
LM Amendola, GP Jarvik, MC Leo, HM McLaughlin, Y Akkari, MD Amaral, ...
The American Journal of Human Genetics 98 (6), 1067-1076, 2016
6092016
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
FE Dewey, MF Murray, JD Overton, L Habegger, JB Leader, SN Fetterolf, ...
Science 354 (6319), aaf6814, 2016
5532016
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
AA Alfares, MA Kelly, G McDermott, BH Funke, MS Lebo, SB Baxter, ...
Genetics in medicine 17 (11), 880-888, 2015
4282015
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing
TJ Pugh, MA Kelly, S Gowrisankar, E Hynes, MA Seidman, SM Baxter, ...
Genetics in Medicine 16 (8), 601-608, 2014
3622014
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
AC Fahed, M Wang, JR Homburger, AP Patel, AG Bick, CL Neben, C Lai, ...
Nature communications 11 (1), 3635, 2020
3362020
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
B Coste, G Houge, MF Murray, N Stitziel, M Bandell, MA Giovanni, ...
Proceedings of the National Academy of Sciences 110 (12), 4667-4672, 2013
2432013
Interpretation of genomic sequencing results in healthy and ill newborns: results from the BabySeq Project
O Ceyhan-Birsoy, JB Murry, K Machini, MS Lebo, WY Timothy, S Fayer, ...
The American Journal of Human Genetics 104 (1), 76-93, 2019
2242019
A systematic approach to assessing the clinical significance of genetic variants
H Duzkale, J Shen, H McLaughlin, A Alfares, MA Kelly, TJ Pugh, ...
Clinical genetics 84 (5), 453-463, 2013
2012013
Exome sequencing–based screening for BRCA1/2 expected pathogenic variants among adult biobank participants
K Manickam, AH Buchanan, MLB Schwartz, MLG Hallquist, JL Williams, ...
JAMA Network Open 1 (5), e182140-e182140, 2018
2002018
The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients: a pilot randomized trial
JL Vassy, KD Christensen, EF Schonman, CL Blout, JO Robinson, ...
Annals of internal medicine 167 (3), 159-169, 2017
1962017
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing
D Mandelker, RJ Schmidt, A Ankala, K McDonald Gibson, M Bowser, ...
Genetics in Medicine 18 (12), 1282-1289, 2016
1952016
Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine
RC Green, KAB Goddard, GP Jarvik, LM Amendola, PS Appelbaum, ...
The American Journal of Human Genetics 98 (6), 1051-1066, 2016
1702016
A model for genome-first care: returning secondary genomic findings to participants and their healthcare providers in a large research cohort
MLB Schwartz, CZ McCormick, AL Lazzeri, ML D’Andra, MLG Hallquist, ...
The American Journal of Human Genetics 103 (3), 328-337, 2018
1532018
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection
SM Zekavat, SH Lin, AG Bick, A Liu, K Paruchuri, C Wang, MM Uddin, ...
Nature medicine 27 (6), 1012-1024, 2021
1332021
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ...
Genome biology 15, 1-18, 2014
1222014
A curated gene list for reporting results of newborn genomic sequencing
O Ceyhan-Birsoy, K Machini, MS Lebo, TW Yu, PB Agrawal, RB Parad, ...
Genetics in Medicine 19 (7), 809-818, 2017
1072017
A systematic approach to the reporting of medically relevant findings from whole genome sequencing
HM McLaughlin, O Ceyhan-Birsoy, KD Christensen, IS Kohane, J Krier, ...
BMC Medical Genetics 15, 1-12, 2014
1022014
Development of a clinical polygenic risk score assay and reporting workflow
L Hao, P Kraft, GF Berriz, ED Hynes, C Koch, P Korategere V Kumar, ...
Nature medicine 28 (5), 1006-1013, 2022
962022
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