-
James R.
Lupski (born
February 22, 1957) is the
Cullen Endowed Chair in
Molecular Genetics and
Professor in the
Department of
Pediatrics at
Baylor College...
- Potocki–
Lupski syndrome (PTLS), also
known as dup(17)p11.2p11.2 syndrome,
trisomy 17p11.2 or
duplication 17p11.2 syndrome, is a
contiguous gene syndrome...
- doi:10.1073/pnas.0701572104. PMC 1871816. PMID 17409186.
Hastings PJ,
Lupski JR,
Rosenberg SM, Ira G (August 2009). "Mechanisms of
change in gene copy...
- with
liability to
pressure palsies, Smith–Magenis syndrome, and Potocki–
Lupski syndrome. The two
widely accepted methods for SD
detection are: 1. Whole-genome...
- in
controlling circadian rhythm, such as CLOCK. The
groups led by
James Lupski (Baylor
College of Medicine) and
Sarah Elsea (Virginia
Commonwealth University)...
- Genetics. 8: 235–243. doi:10.2147/TACG.S69969. PMC 4621202. PMID 26527893.
Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio
Deiros D, Chen DC,
Nazareth L, et al...
- Smith–Magenis
syndrome when
individuals have
deletions of the gene and Potocki–
Lupski syndrome when
individuals have a duplication. It is
known as
retinoic acid...
- doi:10.1002/humu.23265. PMC 5645203. PMID 28544481. Gonzaga-Jauregui C,
Lupski JR,
Gibbs RA (2012). "Human
genome sequencing in
health and disease". Annual...
- 454..762D. doi:10.1038/nature07092. PMID 18594508. S2CID 418964. Lee JA,
Lupski JR (October 2006). "Genomic
rearrangements and gene copy-number alterations...
- 1534/genetics.111.134668. PMC 3276617. PMID 22345605. Hastings, P. J.;
Lupski,
James R.; Rosenberg,
Susan M.; Ira,
Grzegorz (August 2009). "Mechanisms...
