Lupski JR - Search Results

1

The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.

Jordan VK, Beck TF, Hernandez-Garcia A, Kundert PN, Kim BJ, Jhangiani SN, Gambin T, Starkovich M, Punetha J, Paine IS, Posey JE, Li AH, Muzny D, Hsu CW, Lashua AJ, Sun X, Fernandes CJ, Dickinson ME, Lally KP, Gibbs RA, Boerwinkle E, Lupski JR, Scott DA. Jordan VK, et al. Among authors: lupski jr. Hum Mol Genet. 2018 Jun 15;27(12):2064-2075. doi: 10.1093/hmg/ddy110. Hum Mol Genet. 2018. PMID: 29618029 Free PMC article.

2

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

3

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

4

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.

Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Otterud B, Leppert M, Lupski JR. Bejjani BA, et al. Among authors: lupski jr. Am J Hum Genet. 1998 Feb;62(2):325-33. doi: 10.1086/301725. Am J Hum Genet. 1998. PMID: 9463332 Free PMC article.

5

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

Warner LE, Svaren J, Milbrandt J, Lupski JR. Warner LE, et al. Among authors: lupski jr. Hum Mol Genet. 1999 Jul;8(7):1245-51. doi: 10.1093/hmg/8.7.1245. Hum Mol Genet. 1999. PMID: 10369870

6

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR. Bejjani BA, et al. Among authors: lupski jr. Hum Mol Genet. 2000 Feb 12;9(3):367-74. doi: 10.1093/hmg/9.3.367. Hum Mol Genet. 2000. PMID: 10655546

7

Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.

Katsanis N, Venable S, Smith JR, Lupski JR. Katsanis N, et al. Among authors: lupski jr. Hum Genet. 2000 Jan;106(1):66-72. doi: 10.1007/s004390051011. Hum Genet. 2000. PMID: 10982184

8

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.

9

Exploring the molecular basis of Bardet-Biedl syndrome.

Katsanis N, Lupski JR, Beales PL. Katsanis N, et al. Among authors: lupski jr. Hum Mol Genet. 2001 Oct 1;10(20):2293-9. doi: 10.1093/hmg/10.20.2293. Hum Mol Genet. 2001. PMID: 11673413 Review.

10

Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.

Shroyer NF, Lewis RA, Yatsenko AN, Wensel TG, Lupski JR. Shroyer NF, et al. Among authors: lupski jr. Hum Mol Genet. 2001 Nov 1;10(23):2671-8. doi: 10.1093/hmg/10.23.2671. Hum Mol Genet. 2001. PMID: 11726554

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