Lupski JR - Search Results

1

NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.

Nistala H, Dronzek J, Gonzaga-Jauregui C, Chim SM, Rajamani S, Nuwayhid S, Delgado D, Burke E, Karaca E, Franklin MC, Sarangapani P, Podgorski M, Tang Y, Dominguez MG, Withers M, Deckelbaum RA, Scheonherr CJ, Gahl WA, Malicdan MC, Zambrowicz B, Gale NW, Gibbs RA, Chung WK, Lupski JR, Economides AN. Nistala H, et al. Among authors: lupski jr. Hum Mol Genet. 2021 Jan 6;29(21):3516-3531. doi: 10.1093/hmg/ddaa237. Hum Mol Genet. 2021. PMID: 33105479 Free PMC article.

2

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR. Greenberg F, et al. Among authors: lupski jr. Am J Hum Genet. 1991 Dec;49(6):1207-18. Am J Hum Genet. 1991. PMID: 1746552 Free PMC article.

3

A clinical and molecular study of mosaicism for trisomy 17.

Shaffer LG, McCaskill C, Hersh JH, Greenberg F, Lupski JR. Shaffer LG, et al. Among authors: lupski jr. Hum Genet. 1996 Jan;97(1):69-72. doi: 10.1007/BF00218835. Hum Genet. 1996. PMID: 8557263

4

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR. Reiter LT, et al. Among authors: lupski jr. Nat Genet. 1996 Mar;12(3):288-97. doi: 10.1038/ng0396-288. Nat Genet. 1996. PMID: 8589720

5

The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR. Reiter LT, et al. Among authors: lupski jr. Hum Mol Genet. 1997 Sep;6(9):1595-603. doi: 10.1093/hmg/6.9.1595. Hum Mol Genet. 1997. PMID: 9285799

6

A novel locus for Leber congenital amaurosis on chromosome 14q24.

Stockton DW, Lewis RA, Abboud EB, Al-Rajhi A, Jabak M, Anderson KL, Lupski JR. Stockton DW, et al. Among authors: lupski jr. Hum Genet. 1998 Sep;103(3):328-33. doi: 10.1007/s004390050825. Hum Genet. 1998. PMID: 9799089

7

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, Li Y, Lupski JR, Leppert M, Dean M. Lewis RA, et al. Among authors: lupski jr. Am J Hum Genet. 1999 Feb;64(2):422-34. doi: 10.1086/302251. Am J Hum Genet. 1999. PMID: 9973280 Free PMC article.

8

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.

Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. Potocki L, et al. Among authors: lupski jr. Nat Genet. 2000 Jan;24(1):84-7. doi: 10.1038/71743. Nat Genet. 2000. PMID: 10615134

9

Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.

Shroyer NF, Lewis RA, Lupski JR. Shroyer NF, et al. Among authors: lupski jr. Hum Genet. 2000 Feb;106(2):244-8. doi: 10.1007/s004390051034. Hum Genet. 2000. PMID: 10746567

10

Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Boerkoel CF, et al. Among authors: lupski jr. Am J Hum Genet. 2001 Feb;68(2):325-33. doi: 10.1086/318208. Epub 2000 Dec 15. Am J Hum Genet. 2001. PMID: 11133365 Free PMC article.

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