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David Birch

Research Profile

Disorders

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Publications

TOP 3
Kari E H Branham; Matthew Brumm; Maria Laura Ciccarelli; Jacque L Duncan; Gerald A Fishman; John R Heckenlively; Alessandro Iannaccone; Samuel G Jacobson; K Thiran Jayasundera; Barbara Jennings; Athanasios J Karoukis; Richard A Lewis; Mohammad Othman; Sharon B Schwartz; Paul Sieving; Niamh B Stover; sten andreasson; Pelin Atmaca Sonmez; Jean Bennett; David Birch; Karmen M Trzupek; Richard G Weleber; Dianna Wheaton; Beverly M Yashar; Anand Swaroop
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Debra K Breuer; Beverly M Yashar; Elena Filippova; Suja Hiriyanna; Robert H Lyons Jr; Alan J Mears; Bersabell Asaye; Ceren Acar; Raf Vervoort; Alan F Wright; Maria A Musarella; Patricia Wheeler; Ian MacDonald; Alessandro Iannaccone; David Birch; Dennis R Hoffman; Gerald A Fishman; John R Heckenlively; Samuel G Jacobson; Paul Sieving; Anand Swaroop
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
Wojciech Kedzierski; Steven Nusinowitz; David Birch; Geoff Clarke; Roderick R McInnes; Dean Bok; Gabriel H Travis
Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa.

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All Publications

2012: Kari E H Branham; Matthew Brumm; Maria Laura Ciccarelli; Jacque L Duncan; Gerald A Fishman; John R Heckenlively; Alessandro Iannaccone; Samuel G Jacobson; K Thiran Jayasundera; Barbara Jennings; Athanasios J Karoukis; Richard A Lewis; Mohammad Othman; Sharon B Schwartz; Paul Sieving; Niamh B Stover; sten andreasson; Pelin Atmaca Sonmez; Jean Bennett; David Birch; Karmen M Trzupek; Richard G Weleber; Dianna Wheaton; Beverly M Yashar; Anand Swaroop
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Investigative ophthalmology & visual science 2012;53(13):8232-7.
2002: Debra K Breuer; Beverly M Yashar; Elena Filippova; Suja Hiriyanna; Robert H Lyons Jr; Alan J Mears; Bersabell Asaye; Ceren Acar; Raf Vervoort; Alan F Wright; Maria A Musarella; Patricia Wheeler; Ian MacDonald; Alessandro Iannaccone; David Birch; Dennis R Hoffman; Gerald A Fishman; John R Heckenlively; Samuel G Jacobson; Paul Sieving; Anand Swaroop
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
American journal of human genetics 2002;70(6):1545-54.
2001: Wojciech Kedzierski; Steven Nusinowitz; David Birch; Geoff Clarke; Roderick R McInnes; Dean Bok; Gabriel H Travis
Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(14):7718-23.
2001: Maria-Luisa Guevara-Fujita; S Fahrner; Kinga Buraczynska; J Cook; D Wheaton; F Cortes; C Vicencio; M Pena; Gerald A Fishman; HA Mintz-Hittner; David Birch; D Hoffman; Alan J Mears; Ricardo Fujita; Anand Swaroop
Five novel RPGR mutations in families with X-linked retinitis pigmentosa.
Human mutation 2001;17(2):151.
1998: Melanie M Sohocki; Lori S Sullivan; HA Mintz-Hittner; David Birch; John R Heckenlively; Carol L Freund-Taylor; Roderick R McInnes; Stephen P Daiger
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
American journal of human genetics 1998;63(5):1307-15.