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Suganthi Balasubramanian
Suganthi Balasubramanian
Regeneron Genetics Center
Verified email at regeneron.com - Homepage
Title
Cited by
Cited by
Year
An integrated encyclopedia of DNA elements in the human genome
ENCODE Project Consortium
Nature, 2012
167982012
A map of human genome variation from population scale sequencing
DM Altshuler, ES Lander, L Ambrogio, T Bloom, K Cibulskis, TJ Fennell, ...
Nature 467 (7319), 1061-1073, 2010
8778*2010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
82912012
GENCODE: the reference human genome annotation for The ENCODE Project
J Harrow, A Frankish, JM Gonzalez, E Tapanari, M Diekhans, ...
Genome research 22 (9), 1760-1774, 2012
52502012
A systematic survey of loss-of-function variants in human protein-coding genes
DG MacArthur, S Balasubramanian, A Frankish, N Huang, J Morris, ...
Science 335 (6070), 823-828, 2012
13812012
Personal omics profiling reveals dynamic molecular and medical phenotypes
R Chen, GI Mias, J Li-Pook-Than, L Jiang, HYK Lam, R Chen, E Miriami, ...
Cell 148 (6), 1293-1307, 2012
13782012
Demographic history and rare allele sharing among human populations
S Gravel, BM Henn, RN Gutenkunst, AR Indap, GT Marth, AG Clark, F Yu, ...
Proceedings of the National Academy of Sciences 108 (29), 11983-11988, 2011
7152011
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease
NS Abul-Husn, X Cheng, AH Li, Y Xin, C Schurmann, P Stevis, Y Liu, ...
New England Journal of Medicine 378 (12), 1096-1106, 2018
7052018
A user's guide to the encyclopedia of DNA elements (ENCODE)
RM Myers, J Stamatoyannopoulos, M Snyder, I Dunham, RC Hardison, ...
PLoS biology 9 (4), 2011
6762011
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
5562016
Exome sequencing and analysis of 454,787 UK Biobank participants
JD Backman, AH Li, A Marcketta, D Sun, J Mbatchou, MD Kessler, ...
Nature 599 (7886), 628-634, 2021
5072021
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
O Delaneau, J Marchini
Nature communications 5 (1), 3934, 2014
4452014
Integrative annotation of variants from 1092 humans: application to cancer genomics
E Khurana, Y Fu, V Colonna, XJ Mu, HM Kang, T Lappalainen, A Sboner, ...
Science 342 (6154), 1235587, 2013
4202013
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
CV Van Hout, I Tachmazidou, JD Backman, JD Hoffman, D Liu, ...
Nature 586 (7831), 749-756, 2020
4132020
The GENCODE pseudogene resource
B Pei, C Sisu, A Frankish, C Howald, L Habegger, XJ Mu, R Harte, ...
Genome biology 13, 1-26, 2012
3682012
Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations
CG Boer, K Hatzikotoulas, L Southam, L Stefánsdóttir, Y Zhang, ...
Cell 184 (18), 4784-4818. e17, 2021
3132021
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
JD Szustakowski, S Balasubramanian, E Kvikstad, S Khalid, PG Bronson, ...
Nature genetics 53 (7), 942-948, 2021
3012021
What makes a protein a protein? Hydrophobic core designs that specify stability and structural properties
M Munson, S Balasubramanian, KG Fleming, AD Nagi, R O'Brien, ...
Protein Science 5 (8), 1584-1593, 1996
2991996
Molecular fossils in the human genome: identification and analysis of the pseudogenes in chromosomes 21 and 22
PM Harrison, H Hegyi, S Balasubramanian, NM Luscombe, P Bertone, ...
Genome research 12 (2), 272-280, 2002
2652002
Protein alchemy: changing β-sheet into α-helix
S Dalal, S Balasubramanian, L Regan
Nature structural biology 4 (7), 548-552, 1997
2601997
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