Lupski JR - Search Results

1

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song YQ, Posey JE, Qiu G; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) Study; Zhang F, Wu Z, Lupski JR, Wu N. Liu J, et al. Among authors: lupski jr. Hum Genet. 2018 Jul;137(6-7):553-567. doi: 10.1007/s00439-018-1910-3. Epub 2018 Jul 17. Hum Genet. 2018. PMID: 30019117 Free PMC article.

2

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR. Pentao L, et al. Among authors: lupski jr. Am J Hum Genet. 1992 Apr;50(4):690-9. Am J Hum Genet. 1992. PMID: 1347967 Free PMC article.

3

Molecular characterization of a patient with del(1)(q23-q25).

Franco B, Lai LW, Patterson D, Ledbetter DH, Trask BJ, van den Engh G, Iannaccone S, Frances S, Patel PI, Lupski JR. Franco B, et al. Among authors: lupski jr. Hum Genet. 1991 Jul;87(3):269-77. doi: 10.1007/BF00200903. Hum Genet. 1991. PMID: 1677922

4

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.

5

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR. Wise CA, et al. Among authors: lupski jr. Am J Hum Genet. 1993 Oct;53(4):853-63. Am J Hum Genet. 1993. PMID: 8105684 Free PMC article.

6

A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p.

Anderson KL, Baird L, Lewis RA, Chinault AC, Otterud B, Leppert M, Lupski JR. Anderson KL, et al. Among authors: lupski jr. Am J Hum Genet. 1995 Dec;57(6):1351-63. Am J Hum Genet. 1995. PMID: 8533764 Free PMC article.

7

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

8

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.

9

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

10

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.

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