Results
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61.
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Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. [electronic resource] by
- Ng, David
- Thakker, Nalin
- Corcoran, Connie M
- Donnai, Dian
- Perveen, Rahat
- Schneider, Adele
- Hadley, Donald W
- Tifft, Cynthia
- Zhang, Liqun
- Wilkie, Andrew O M
- van der Smagt, Jasper J
- Gorlin, Robert J
- Burgess, Shawn M
- Bardwell, Vivian J
- Black, Graeme C M
- Biesecker, Leslie G
Producer: 20040816
In:
Nature genetics vol. 36
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62.
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Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. [electronic resource] by
- Kolehmainen, Juha
- Wilkinson, Robert
- Lehesjoki, Anna-Elina
- Chandler, Kate
- Kivitie-Kallio, Satu
- Clayton-Smith, Jill
- Träskelin, Ann-Liz
- Waris, Laura
- Saarinen, Anne
- Khan, Jabbar
- Gross-Tsur, Varda
- Traboulsi, Elias I
- Warburg, Mette
- Fryns, Jean-Pierre
- Norio, Reijo
- Black, Graeme C M
- Manson, Forbes D C
Producer: 20040720
In:
American journal of human genetics vol. 75
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63.
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Clinical and genetic variability in children with partial albinism. [electronic resource] by
- Campbell, Patrick
- Ellingford, Jamie M
- Parry, Neil R A
- Fletcher, Tracy
- Ramsden, Simon C
- Gale, Theodora
- Hall, Georgina
- Smith, Katherine
- Kasperaviciute, Dalia
- Thomas, Ellen
- Lloyd, I Chris
- Douzgou, Sofia
- Clayton-Smith, Jill
- Biswas, Susmito
- Ashworth, Jane L
- Black, Graeme C M
- Sergouniotis, Panagiotis I
Producer: 20201029
In:
Scientific reports vol. 9
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64.
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Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. [electronic resource] by
- Hull, Sarah
- Owen, Nicholas
- Islam, Farrah
- Tracey-White, Dhani
- Plagnol, Vincent
- Holder, Graham E
- Michaelides, Michel
- Carss, Keren
- Raymond, F Lucy
- Rozet, Jean-Michel
- Ramsden, Simon C
- Black, Graeme C M
- Perrault, Isabelle
- Sarkar, Ajoy
- Moosajee, Mariya
- Webster, Andrew R
- Arno, Gavin
- Moore, Anthony T
Producer: 20160719
In:
Investigative ophthalmology & visual science vol. 57
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65.
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Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). [electronic resource] by
- Yardley, Jill
- Leroy, Bart P
- Hart-Holden, Niki
- Lafaut, Bart A
- Loeys, Bart
- Messiaen, Ludwine M
- Perveen, Rahat
- Reddy, M Ashwin
- Bhattacharya, Shomi S
- Traboulsi, Elias
- Baralle, Diana
- De Laey, Jean-Jacques
- Puech, Bernard
- Kestelyn, Philippe
- Moore, Anthony T
- Manson, Forbes D C
- Black, Graeme C M
Producer: 20041106
In:
Investigative ophthalmology & visual science vol. 45
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66.
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Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. [electronic resource] by
- O'Driscoll, Mary C
- Daly, Sarah B
- Urquhart, Jill E
- Black, Graeme C M
- Pilz, Daniela T
- Brockmann, Knut
- McEntagart, Meriel
- Abdel-Salam, Ghada
- Zaki, Maha
- Wolf, Nicole I
- Ladda, Roger L
- Sell, Susan
- D'Arrigo, Stefano
- Squier, Waney
- Dobyns, William B
- Livingston, John H
- Crow, Yanick J
Producer: 20101007
In:
American journal of human genetics vol. 87
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67.
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Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. [electronic resource] by
- Ellingford, Jamie M
- Barton, Stephanie
- Bhaskar, Sanjeev
- Williams, Simon G
- Sergouniotis, Panagiotis I
- O'Sullivan, James
- Lamb, Janine A
- Perveen, Rahat
- Hall, Georgina
- Newman, William G
- Bishop, Paul N
- Roberts, Stephen A
- Leach, Rick
- Tearle, Rick
- Bayliss, Stuart
- Ramsden, Simon C
- Nemeth, Andrea H
- Black, Graeme C M
Producer: 20170602
In:
Ophthalmology vol. 123
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68.
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Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. [electronic resource] by
- Kantarci, Sibel
- Al-Gazali, Lihadh
- Hill, R Sean
- Donnai, Dian
- Black, Graeme C M
- Bieth, Eric
- Chassaing, Nicolas
- Lacombe, Didier
- Devriendt, Koen
- Teebi, Ahmad
- Loscertales, Maria
- Robson, Caroline
- Liu, Tianming
- MacLaughlin, David T
- Noonan, Kristin M
- Russell, Meaghan K
- Walsh, Christopher A
- Donahoe, Patricia K
- Pober, Barbara R
Producer: 20070919
In:
Nature genetics vol. 39
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69.
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Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. [electronic resource] by
- Toomes, Carmel
- Bottomley, Helen M
- Jackson, Richard M
- Towns, Katherine V
- Scott, Sheila
- Mackey, David A
- Craig, Jamie E
- Jiang, Li
- Yang, Zhenglin
- Trembath, Richard
- Woodruff, Geoffrey
- Gregory-Evans, Cheryl Y
- Gregory-Evans, Kevin
- Parker, Michael J
- Black, Graeme C M
- Downey, Louise M
- Zhang, Kang
- Inglehearn, Chris F
Producer: 20040510
In:
American journal of human genetics vol. 74
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70.
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BIGH3 mutation spectrum in corneal dystrophies. [electronic resource] by
- Munier, Francis L
- Frueh, Beatrice E
- Othenin-Girard, Philippe
- Uffer, Sylvie
- Cousin, Pascal
- Wang, Ming X
- Héon, Elise
- Black, Graeme C M
- Blasi, Maria A
- Balestrazzi, Emilio
- Lorenz, Birgit
- Escoto, Rafael
- Barraquer, Rafael
- Hoeltzenbein, Maria
- Gloor, Balder
- Fossarello, Maurizio
- Singh, Arun D
- Arsenijevic, Yvan
- Zografos, Léonidas
- Schorderet, Daniel F
Producer: 20020429
In:
Investigative ophthalmology & visual science vol. 43
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71.
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Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. [electronic resource] by
- Towns, Katherine V
- Kipioti, Athina
- Long, Vernon
- McKibbin, Martin
- Maubaret, Cecilia
- Vaclavik, Veronika
- Ehsani, Parastoo
- Springell, Kelly
- Kamal, Mohammed
- Ramesar, Raj S
- Mackey, David A
- Moore, Anthony T
- Mukhopadhyay, Rajarshi
- Webster, Andrew R
- Black, Graeme C M
- O'Sullivan, James
- Bhattacharya, Shomi S
- Pierce, Eric A
- Beggs, Jean D
- Inglehearn, Chris F
Producer: 20100730
In:
Human mutation vol. 31
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72.
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Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes. [electronic resource] by
- Astuti, Galuh D N
- van den Born, L Ingeborgh
- Khan, M Imran
- Hamel, Christian P
- Bocquet, Béatrice
- Manes, Gaël
- Quinodoz, Mathieu
- Ali, Manir
- Toomes, Carmel
- McKibbin, Martin
- El-Asrag, Mohammed E
- Haer-Wigman, Lonneke
- Inglehearn, Chris F
- Black, Graeme C M
- Hoyng, Carel B
- Cremers, Frans P M
- Roosing, Susanne
Publication details: Genes Jan 2018
In:
Genes vol. 9
Availability: No items available.
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73.
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Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. [electronic resource] by
- Mukhopadhyay, Arijit
- Nikopoulos, Konstantinos
- Maugeri, Alessandra
- de Brouwer, Arjan P M
- van Nouhuys, C Eric
- Boon, Camiel J F
- Perveen, Rahat
- Zegers, Hester A A
- Wittebol-Post, Dienke
- van den Biesen, Pieter R
- van der Velde-Visser, Saskia D
- Brunner, Han G
- Black, Graeme C M
- Hoyng, Carel B
- Cremers, Frans P M
Producer: 20060831
In:
Investigative ophthalmology & visual science vol. 47
Availability: No items available.
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74.
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Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. [electronic resource] by
- Ravesh, Zeinab
- El Asrag, Mohammed E
- Weisschuh, Nicole
- McKibbin, Martin
- Reuter, Peggy
- Watson, Christopher M
- Baumann, Britta
- Poulter, James A
- Sajid, Sundus
- Panagiotou, Evangelia S
- O'Sullivan, James
- Abdelhamed, Zakia
- Bonin, Michael
- Soltanifar, Mehdi
- Black, Graeme C M
- Amin-ud Din, Muhammad
- Toomes, Carmel
- Ansar, Muhammad
- Inglehearn, Chris F
- Wissinger, Bernd
- Ali, Manir
Producer: 20150911
In:
Molecular vision vol. 21
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75.
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Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. [electronic resource] by
- Greenlees, Rebecca
- Mihelec, Marija
- Yousoof, Saira
- Speidel, Daniel
- Wu, Selwin K
- Rinkwitz, Silke
- Prokudin, Ivan
- Perveen, Rahat
- Cheng, Anson
- Ma, Alan
- Nash, Benjamin
- Gillespie, Rachel
- Loebel, David A F
- Clayton-Smith, Jill
- Lloyd, I Christopher
- Grigg, John R
- Tam, Patrick P L
- Yap, Alpha S
- Becker, Thomas S
- Black, Graeme C M
- Semina, Elena
- Jamieson, Robyn V
Producer: 20160712
In:
Human molecular genetics vol. 24
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76.
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Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. [electronic resource] by
- Burkitt Wright, Emma M M
- Spencer, Helen L
- Daly, Sarah B
- Manson, Forbes D C
- Zeef, Leo A H
- Urquhart, Jill
- Zoppi, Nicoletta
- Bonshek, Richard
- Tosounidis, Ioannis
- Mohan, Meyyammai
- Madden, Colm
- Dodds, Annabel
- Chandler, Kate E
- Banka, Siddharth
- Au, Leon
- Clayton-Smith, Jill
- Khan, Naz
- Biesecker, Leslie G
- Wilson, Meredith
- Rohrbach, Marianne
- Colombi, Marina
- Giunta, Cecilia
- Black, Graeme C M
Producer: 20110817
In:
American journal of human genetics vol. 88
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77.
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Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR. [electronic resource] by
- Cehajic-Kapetanovic, Jasmina
- Xue, Kanmin
- Martinez-Fernandez de la Camara, Cristina
- Nanda, Anika
- Davies, Alexandra
- Wood, Laura J
- Salvetti, Anna Paola
- Fischer, M Dominik
- Aylward, James W
- Barnard, Alun R
- Jolly, Jasleen K
- Luo, Edmond
- Lujan, Brandon J
- Ong, Tuyen
- Girach, Aniz
- Black, Graeme C M
- Gregori, Ninel Z
- Davis, Janet L
- Rosa, Potyra R
- Lotery, Andrew J
- Lam, Byron L
- Stanga, Paulo E
- MacLaren, Robert E
Producer: 20200407
In:
Nature medicine vol. 26
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78.
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Identification of mutations in CUL7 in 3-M syndrome. [electronic resource] by
- Huber, Céline
- Dias-Santagata, Dora
- Glaser, Anna
- O'Sullivan, James
- Brauner, Raja
- Wu, Kenneth
- Xu, Xinsong
- Pearce, Kerra
- Wang, Rong
- Uzielli, Maria Luisa Giovannucci
- Dagoneau, Nathalie
- Chemaitilly, Wassim
- Superti-Furga, Andrea
- Dos Santos, Heloisa
- Mégarbané, André
- Morin, Gilles
- Gillessen-Kaesbach, Gabriele
- Hennekam, Raoul
- Van der Burgt, Ineke
- Black, Graeme C M
- Clayton, Peter E
- Read, Andrew
- Le Merrer, Martine
- Scambler, Peter J
- Munnich, Arnold
- Pan, Zhen-Qiang
- Winter, Robin
- Cormier-Daire, Valérie
Producer: 20051220
In:
Nature genetics vol. 37
Availability: No items available.
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79.
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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. [electronic resource] by
- Garnai, Sarah J
- Brinkmeier, Michelle L
- Emery, Ben
- Aleman, Tomas S
- Pyle, Louise C
- Veleva-Rotse, Biliana
- Sisk, Robert A
- Rozsa, Frank W
- Ozel, Ayse Bilge
- Li, Jun Z
- Moroi, Sayoko E
- Archer, Steven M
- Lin, Cheng-Mao
- Sheskey, Sarah
- Wiinikka-Buesser, Laurel
- Eadie, James
- Urquhart, Jill E
- Black, Graeme C M
- Othman, Mohammad I
- Boehnke, Michael
- Sullivan, Scot A
- Skuta, Gregory L
- Pawar, Hemant S
- Katz, Alexander E
- Huryn, Laryssa A
- Hufnagel, Robert B
- Camper, Sally A
- Richards, Julia E
- Prasov, Lev
Producer: 20191126
In:
PLoS genetics vol. 15
Availability: No items available.
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80.
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GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay. [electronic resource] by
- Rumping, Lynne
- Tessadori, Federico
- Pouwels, Petra J W
- Vringer, Esmee
- Wijnen, Jannie P
- Bhogal, Alex A
- Savelberg, Sanne M C
- Duran, Karen J
- Bakkers, Mark J G
- Ramos, Rúben J J
- Schellekens, Peter A W
- Kroes, Hester Y
- Klomp, Dennis W J
- Black, Graeme C M
- Taylor, Rachel L
- Bakkers, Jeroen P W
- Prinsen, Hubertus C M T
- van der Knaap, Marjo S
- Dansen, Tobias B
- Rehmann, Holger
- Zwartkruis, Fried J T
- Houwen, Roderick H J
- van Haaften, Gijs
- Verhoeven-Duif, Nanda M
- Jans, Judith J M
- van Hasselt, Peter M
Producer: 20190614
In:
Human molecular genetics vol. 28
Availability: No items available.
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