Farrar GJ - Search Results

1

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

Fadaie Z, Whelan L, Ben-Yosef T, Dockery A, Corradi Z, Gilissen C, Haer-Wigman L, Corominas J, Astuti GDN, de Rooij L, van den Born LI, Klaver CCW, Hoyng CB, Wynne N, Duignan ES, Kenna PF, Cremers FPM, Farrar GJ, Roosing S. Fadaie Z, et al. Among authors: farrar gj. NPJ Genom Med. 2021 Nov 18;6(1):97. doi: 10.1038/s41525-021-00261-1. NPJ Genom Med. 2021. PMID: 34795310 Free PMC article.

2

Polymorphic variation within "conserved" sequences at the 3' end of the human RDS gene which results in amino acid substitutions.

Jordan SA, Farrar GJ, Kenna P, Humphries P. Jordan SA, et al. Among authors: farrar gj. Hum Mutat. 1992;1(3):240-7. doi: 10.1002/humu.1380010311. Hum Mutat. 1992. PMID: 1301931

3

Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.

Farrar GJ, Findlay JB, Kumar-Singh R, Kenna P, Humphries MM, Sharpe E, Humphries P. Farrar GJ, et al. Hum Mol Genet. 1992 Dec;1(9):769-71. doi: 10.1093/hmg/1.9.769. Hum Mol Genet. 1992. PMID: 1302614 No abstract available.

4

Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.

Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Sheils D, Humphries P. Farrar GJ, et al. Genomics. 1992 Nov;14(3):805-7. doi: 10.1016/s0888-7543(05)80193-4. Genomics. 1992. PMID: 1427912

5

Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin.

Jordan SA, Farrar GJ, Kumar-Singh R, Kenna P, Humphries MM, Allamand V, Sharp EM, Humphries P. Jordan SA, et al. Among authors: farrar gj. Am J Hum Genet. 1992 Mar;50(3):634-9. Am J Hum Genet. 1992. PMID: 1539599 Free PMC article.

6

On the molecular genetics of retinitis pigmentosa.

Humphries P, Kenna P, Farrar GJ. Humphries P, et al. Among authors: farrar gj. Science. 1992 May 8;256(5058):804-8. doi: 10.1126/science.1589761. Science. 1992. PMID: 1589761 Review.

7

A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Sheils DM, Humphries P. Farrar GJ, et al. Nature. 1991 Dec 12;354(6353):478-80. doi: 10.1038/354478a0. Nature. 1991. PMID: 1749427

8

A sequence polymorphism in the human peripherin/RDS gene.

Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries P. Farrar GJ, et al. Nucleic Acids Res. 1991 Dec 25;19(24):6982. doi: 10.1093/nar/19.24.6982-a. Nucleic Acids Res. 1991. PMID: 1762948 Free PMC article.

9

Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity.

Farrar GJ, McWilliam P, Bradley DG, Kenna P, Lawler M, Sharp EM, Humphries MM, Eiberg H, Conneally PM, Trofatter JA, et al. Farrar GJ, et al. Genomics. 1990 Sep;8(1):35-40. doi: 10.1016/0888-7543(90)90223-h. Genomics. 1990. PMID: 2081598

10

Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease.

Humphries P, Farrar GJ, Kenna P, McWilliam P. Humphries P, et al. Among authors: farrar gj. Clin Genet. 1990 Jul;38(1):1-13. doi: 10.1111/j.1399-0004.1990.tb03541.x. Clin Genet. 1990. PMID: 2201466 Review.

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