James Lupski
James Lupski
Verified email at bcm.edu
Cited by
Cited by
The complete genome of an individual by massively parallel DNA sequencing
DA Wheeler, M Srinivasan, M Egholm, Y Shen, L Chen, A McGuire, W He, ...
nature 452 (7189), 872-876, 2008
Genomic fingerprinting of bacteria using repetitive sequence-based polymerase chain reaction
J Versalovic, M Schneider, FJ De Bruijn, JR Lupski
Methods in molecular and cellular biology 5 (1), 25-40, 1994
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
Y Yang, DM Muzny, JG Reid, MN Bainbridge, A Willis, PA Ward, ...
New England Journal of Medicine 369 (16), 1502-1511, 2013
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy
R Allikmets, N Singh, H Sun, NF Shroyer, A Hutchinson, A Chidambaram, ...
Nature genetics 15 (3), 236-246, 1997
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
JR Lupski, RM de Oca-Luna, S Slaugenhaupt, L Pentao, V Guzzetta, ...
Cell 66 (2), 219-232, 1991
Structural variation in the human genome and its role in disease
P Stankiewicz, JR Lupski
Annual review of medicine 61, 437-455, 2010
Mechanisms of change in gene copy number
PJ Hastings, JR Lupski, SM Rosenberg, G Ira
Nature Reviews Genetics 10 (8), 551-564, 2009
Copy number variation in human health, disease, and evolution
F Zhang, W Gu, ME Hurles, JR Lupski
Annual review of genomics and human genetics 10, 451-481, 2009
Molecular findings among patients referred for clinical whole-exome sequencing
Y Yang, DM Muzny, F Xia, Z Niu, R Person, Y Ding, P Ward, A Braxton, ...
Jama 312 (18), 1870-1879, 2014
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
R Allikmets, NF Shroyer, N Singh, JM Seddon, RA Lewis, PS Bernstein, ...
Science 277 (5333), 1805-1807, 1997
Genome architecture, rearrangements and genomic disorders
P Stankiewicz, JR Lupski
TRENDS in Genetics 18 (2), 74-82, 2002
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits
JR Lupski
Trends in genetics 14 (10), 417-422, 1998
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
JA Lee, CMB Carvalho, JR Lupski
cell 131 (7), 1235-1247, 2007
Whole-genome sequencing in a patient with Charcot–Marie–Tooth neuropathy
JR Lupski, JG Reid, C Gonzaga-Jauregui, D Rio Deiros, DCY Chen, ...
New England Journal of Medicine 362 (13), 1181-1191, 2010
A microhomology-mediated break-induced replication model for the origin of human copy number variation
PJ Hastings, G Ira, JR Lupski
PLoS genet 5 (1), e1000327, 2009
Mechanisms for human genomic rearrangements
W Gu, F Zhang, JR Lupski
Pathogenetics 1 (1), 1-17, 2008
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
N Katsanis, SJ Ansley, JL Badano, ER Eichers, RA Lewis, BE Hoskins, ...
Science 293 (5538), 2256-2259, 2001
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
AJ Ross, H May-Simera, ER Eichers, M Kai, J Hill, DJ Jagger, CC Leitch, ...
Nature genetics 37 (10), 1135-1140, 2005
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes
JR Lupski, P Stankiewicz
PLoS Genet 1 (6), e49, 2005
Recurrent reciprocal 1q21. 1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
N Brunetti-Pierri, JS Berg, F Scaglia, J Belmont, CA Bacino, T Sahoo, ...
Nature genetics 40 (12), 1466-1471, 2008
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