[go: up one dir, main page]

Follow
Matthew Lebo
Matthew Lebo
Brigham and Woman's Hospital, Harvard Medical School, Mass General Brigham
Verified email at partners.org
Title
Cited by
Cited by
Year
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
16032015
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
8792019
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
6972016
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
6252016
Genomic data in the all of us research program
Biobank, Mayo Blegen Ashley L. 18 Wirkus Samantha J. 18 Wagner Victoria A ...
Nature 627 (8003), 340-346, 2024
6192024
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
5332015
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
4982020
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
4202014
Interpretation of genomic sequencing results in healthy and ill newborns: results from the BabySeq Project
O Ceyhan-Birsoy, JB Murry, K Machini, MS Lebo, TW Yu, S Fayer, ...
The American Journal of Human Genetics 104 (1), 76-93, 2019
3212019
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
2832013
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
2432016
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
2352018
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
2242013
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
2072017
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
2002021
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, DAM Lindbuchler, ...
The American Journal of Human Genetics 103 (3), 328-337, 2018
1902018
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
1782016
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
1742022
Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations
T Ge, MR Irvin, A Patki, V Srinivasasainagendra, YF Lin, HK Tiwari, ...
Genome Medicine 14 (1), 70, 2022
1542022
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease
CR Marshall, S Chowdhury, RJ Taft, MS Lebo, JG Buchan, SM Harrison, ...
NPJ Genomic Medicine 5 (1), 47, 2020
1392020
The system can't perform the operation now. Try again later.
Articles 1–20