Results
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41.
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Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. [electronic resource] by
- Osbun, Nathan
- Li, Jiang
- O'Driscoll, Mary C
- Strominger, Zoe
- Wakahiro, Mari
- Rider, Eric
- Bukshpun, Polina
- Boland, Elena
- Spurrell, Cailyn H
- Schackwitz, Wendy
- Pennacchio, Len A
- Dobyns, William B
- Black, Graeme C M
- Sherr, Elliott H
Producer: 20111123
In:
American journal of medical genetics. Part A vol. 155A
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42.
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Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. [electronic resource] by
- Kolehmainen, Juha
- Black, Graeme C M
- Saarinen, Anne
- Chandler, Kate
- Clayton-Smith, Jill
- Träskelin, Ann-Liz
- Perveen, Rahat
- Kivitie-Kallio, Satu
- Norio, Reijo
- Warburg, Mette
- Fryns, Jean-Pierre
- de la Chapelle, Albert
- Lehesjoki, Anna-Elina
Producer: 20030722
In:
American journal of human genetics vol. 72
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43.
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Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. [electronic resource] by
- Toomes, Carmel
- Bottomley, Helen M
- Scott, Sheila
- Mackey, David A
- Craig, Jamie E
- Appukuttan, Binoy
- Stout, J Timothy
- Flaxel, Christina J
- Zhang, Kang
- Black, Graeme C M
- Fryer, Alan
- Downey, Louise M
- Inglehearn, Chris F
Producer: 20040727
In:
Investigative ophthalmology & visual science vol. 45
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44.
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Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin. [electronic resource] by
- Davies, Wayne I L
- Downes, Susan M
- Fu, Josephine K
- Shanks, Morag E
- Copley, Richard R
- Lise, Stefano
- Ramsden, Simon C
- Black, Graeme C M
- Gibson, Kate
- Foster, Russell G
- Hankins, Mark W
- Németh, Andrea H
Producer: 20130408
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 14
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45.
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Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. [electronic resource] by
- Boland, Elena
- Clayton-Smith, Jill
- Woo, Victoria G
- McKee, Shane
- Manson, Forbes D C
- Medne, Livija
- Zackai, Elaine
- Swanson, Eric A
- Fitzpatrick, David
- Millen, Kathleen J
- Sherr, Elliott H
- Dobyns, William B
- Black, Graeme C M
Producer: 20070921
In:
American journal of human genetics vol. 81
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46.
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Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. [electronic resource] by
- Jamieson, Robyn V
- Farrar, Nicola
- Stewart, Katrina
- Perveen, Rahat
- Mihelec, Marija
- Carette, Martin
- Grigg, John R
- McAvoy, John W
- Lovicu, Frank J
- Tam, Patrick P L
- Scambler, Peter
- Lloyd, I Christopher
- Donnai, Dian
- Black, Graeme C M
Producer: 20071023
In:
Human mutation vol. 28
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47.
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Childhood-onset autosomal recessive bestrophinopathy. [electronic resource] by
- Borman, Arundhati Dev
- Davidson, Alice E
- O'Sullivan, James
- Thompson, Dorothy A
- Robson, Anthony G
- De Baere, Elfride
- Black, Graeme C M
- Webster, Andrew R
- Holder, Graham E
- Leroy, Bart P
- Manson, Forbes D C
- Moore, Anthony T
Producer: 20110929
In:
Archives of ophthalmology (Chicago, Ill. : 1960) vol. 129
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48.
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Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. [electronic resource] by
- Hanson, Dan
- Murray, Philip G
- O'Sullivan, James
- Urquhart, Jill
- Daly, Sarah
- Bhaskar, Sanjeev S
- Biesecker, Leslie G
- Skae, Mars
- Smith, Claire
- Cole, Trevor
- Kirk, Jeremy
- Chandler, Kate
- Kingston, Helen
- Donnai, Dian
- Clayton, Peter E
- Black, Graeme C M
Producer: 20110919
In:
American journal of human genetics vol. 89
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49.
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ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. [electronic resource] by
- Rohrbach, Marianne
- Spencer, Helen L
- Porter, Louise F
- Burkitt-Wright, Emma M M
- Bürer, Céline
- Janecke, Andreas
- Bakshi, Madhura
- Sillence, David
- Al-Hussain, Hailah
- Baumgartner, Matthias
- Steinmann, Beat
- Black, Graeme C M
- Manson, Forbes D C
- Giunta, Cecilia
Producer: 20140122
In:
Molecular genetics and metabolism vol. 109
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50.
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Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. [electronic resource] by
- O'Sullivan, James
- Bitu, Carolina C
- Daly, Sarah B
- Urquhart, Jill E
- Barron, Martin J
- Bhaskar, Sanjeev S
- Martelli-Júnior, Hercilio
- dos Santos Neto, Pedro Eleuterio
- Mansilla, Maria A
- Murray, Jeffrey C
- Coletta, Ricardo D
- Black, Graeme C M
- Dixon, Michael J
Producer: 20110815
In:
American journal of human genetics vol. 88
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51.
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Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. [electronic resource] by
- MacLaren, Robert E
- Groppe, Markus
- Barnard, Alun R
- Cottriall, Charles L
- Tolmachova, Tanya
- Seymour, Len
- Clark, K Reed
- During, Matthew J
- Cremers, Frans P M
- Black, Graeme C M
- Lotery, Andrew J
- Downes, Susan M
- Webster, Andrew R
- Seabra, Miguel C
Producer: 20140415
In:
Lancet (London, England) vol. 383
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52.
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Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. [electronic resource] by
- Mitchell, Karen
- O'Sullivan, James
- Missero, Caterina
- Blair, Ed
- Richardson, Rose
- Anderson, Beverley
- Antonini, Dario
- Murray, Jeffrey C
- Shanske, Alan L
- Schutte, Brian C
- Romano, Rose-Anne
- Sinha, Satrajit
- Bhaskar, Sanjeev S
- Black, Graeme C M
- Dixon, Jill
- Dixon, Michael J
Producer: 20120312
In:
American journal of human genetics vol. 90
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53.
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Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data. [electronic resource] by
- Carr, Ian M
- Morgan, Joanne
- Watson, Christopher
- Melnik, Svitlana
- Diggle, Christine P
- Logan, Clare V
- Harrison, Sally M
- Taylor, Graham R
- Pena, Sergio D J
- Markham, Alexander F
- Alkuraya, Fowzan S
- Black, Graeme C M
- Ali, Manir
- Bonthron, David T
Producer: 20140127
In:
Human mutation vol. 34
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54.
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Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases. [electronic resource] by
- Ellingford, Jamie M
- Horn, Bradley
- Campbell, Christopher
- Arno, Gavin
- Barton, Stephanie
- Tate, Catriona
- Bhaskar, Sanjeev
- Sergouniotis, Panagiotis I
- Taylor, Rachel L
- Carss, Keren J
- Raymond, Lucy F L
- Michaelides, Michel
- Ramsden, Simon C
- Webster, Andrew R
- Black, Graeme C M
Producer: 20190910
In:
Journal of medical genetics vol. 55
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55.
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MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. [electronic resource] by
- Conte, Ivan
- Hadfield, Kristen D
- Barbato, Sara
- Carrella, Sabrina
- Pizzo, Mariateresa
- Bhat, Rajeshwari S
- Carissimo, Annamaria
- Karali, Marianthi
- Porter, Louise F
- Urquhart, Jill
- Hateley, Sofie
- O'Sullivan, James
- Manson, Forbes D C
- Neuhauss, Stephan C F
- Banfi, Sandro
- Black, Graeme C M
Producer: 20151110
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 112
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56.
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Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. [electronic resource] by
- Davidson, Alice E
- Millar, Ian D
- Urquhart, Jill E
- Burgess-Mullan, Rosemary
- Shweikh, Yusrah
- Parry, Neil
- O'Sullivan, James
- Maher, Geoffrey J
- McKibbin, Martin
- Downes, Susan M
- Lotery, Andrew J
- Jacobson, Samuel G
- Brown, Peter D
- Black, Graeme C M
- Manson, Forbes D C
Producer: 20091222
In:
American journal of human genetics vol. 85
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57.
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Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families. [electronic resource] by
- Chakarova, Christina F
- Cherninkova, Sylvia
- Tournev, Ivailo
- Waseem, Naushin
- Kaneva, Radka
- Jordanova, Albena
- Veraitch, Brotati K
- Gill, Bhavdip
- Colclough, Tracy
- Nakova, Anastasia
- Oscar, Alexander
- Mihaylova, Violeta
- Nikolova-Hill, Amelia
- Wright, Alan F
- Black, Graeme C M
- Ramsden, Simon
- Kremensky, Ivo
- Bhattacharya, Shomi S
Producer: 20060920
In:
Molecular vision vol. 12
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58.
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Biallelic mutation of BEST1 causes a distinct retinopathy in humans. [electronic resource] by
- Burgess, Rosemary
- Millar, Ian D
- Leroy, Bart P
- Urquhart, Jill E
- Fearon, Ian M
- De Baere, Elfrida
- Brown, Peter D
- Robson, Anthony G
- Wright, Genevieve A
- Kestelyn, Philippe
- Holder, Graham E
- Webster, Andrew R
- Manson, Forbes D C
- Black, Graeme C M
Producer: 20080130
In:
American journal of human genetics vol. 82
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59.
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Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. [electronic resource] by
- Nishimura, Darryl Y
- Baye, Lisa M
- Perveen, Rahat
- Searby, Charles C
- Avila-Fernandez, Almudena
- Pereiro, Ines
- Ayuso, Carmen
- Valverde, Diana
- Bishop, Paul N
- Manson, Forbes D C
- Urquhart, Jill
- Stone, Edwin M
- Slusarski, Diane C
- Black, Graeme C M
- Sheffield, Val C
Producer: 20100621
In:
American journal of human genetics vol. 86
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60.
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Molecular findings from 537 individuals with inherited retinal disease. [electronic resource] by
- Ellingford, Jamie M
- Barton, Stephanie
- Bhaskar, Sanjeev
- O'Sullivan, James
- Williams, Simon G
- Lamb, Janine A
- Panda, Binay
- Sergouniotis, Panagiotis I
- Gillespie, Rachel L
- Daiger, Stephen P
- Hall, Georgina
- Gale, Theodora
- Lloyd, I Christopher
- Bishop, Paul N
- Ramsden, Simon C
- Black, Graeme C M
Publication details: Journal of medical genetics Nov 2016
In:
Journal of medical genetics vol. 53
Availability: No items available.
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