Lupski JR - Search Results

1

Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.

Vatta M, Niu Z, Lupski JR, Putnam P, Spoonamore KG, Fang P, Eng CM, Willis AS. Vatta M, et al. Among authors: lupski jr. Am J Med Genet A. 2013 Dec;161A(12):3182-6. doi: 10.1002/ajmg.a.36178. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 23956205 Free PMC article.

2

Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies.

Levin ML, Shaffer LG, Lewis RAp6, Gresik MV, Lupski JR. Levin ML, et al. Among authors: lupski jr. Am J Med Genet. 1995 Jan 2;55(1):30-2. doi: 10.1002/ajmg.1320550110. Am J Med Genet. 1995. PMID: 7702093

3

De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations.

Shapira SK, Anderson KL, Orr-Urtregar A, Craigen WJ, Lupski JR, Shaffer LG. Shapira SK, et al. Among authors: lupski jr. Am J Med Genet. 1994 Aug 1;52(1):44-50. doi: 10.1002/ajmg.1320520109. Am J Med Genet. 1994. PMID: 7977460

4

Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization.

Juyal RC, Greenberg F, Mengden GA, Lupski JR, Trask BJ, van den Engh G, Lindsay EA, Christy H, Chen KS, Baldini A, et al. Juyal RC, et al. Among authors: lupski jr. Am J Med Genet. 1995 Sep 11;58(3):286-91. doi: 10.1002/ajmg.1320580317. Am J Med Genet. 1995. PMID: 8533833

5

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.

Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, Patel PI. Juyal RC, et al. Among authors: lupski jr. Am J Hum Genet. 1996 May;58(5):998-1007. Am J Hum Genet. 1996. PMID: 8651284 Free PMC article.

6

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2).

Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, Williamson D, Brown F, Dutton R, McCluggage C, Friedman E, Sulek M, Lupski JR. Greenberg F, et al. Among authors: lupski jr. Am J Med Genet. 1996 Mar 29;62(3):247-54. doi: 10.1002/(SICI)1096-8628(19960329)62:3<247::AID-AJMG9>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8882782

7

Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory.

Shaffer LG, Kennedy GM, Spikes AS, Lupski JR. Shaffer LG, et al. Among authors: lupski jr. Am J Med Genet. 1997 Mar 31;69(3):325-31. Am J Med Genet. 1997. PMID: 9096765

8

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.

Stockton DW, Ross HL, Bacino CA, Altman CA, Shaffer LG, Lupski JR. Stockton DW, et al. Among authors: lupski jr. Am J Med Genet. 1997 Aug 8;71(2):189-93. doi: 10.1002/(sici)1096-8628(19970808)71:2<189::aid-ajmg13>3.0.co;2-a. Am J Med Genet. 1997. PMID: 9217220

9

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.

Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR. Chen KS, et al. Among authors: lupski jr. Nat Genet. 1997 Oct;17(2):154-63. doi: 10.1038/ng1097-154. Nat Genet. 1997. PMID: 9326934

10

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.

Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG. Wu YQ, et al. Among authors: lupski jr. Am J Med Genet. 1998 Jun 16;78(1):82-9. doi: 10.1002/(sici)1096-8628(19980616)78:1<82::aid-ajmg17>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9637430

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