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Nature medicine, 2018-10, Vol.24 (10), p.1507-1512
2018
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Scientific reports, 2019-03, Vol.9 (1), p.3793-3793, Article 3793
2019
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Scientific reports, 2017-03, Vol.7 (1), p.51-51, Article 51
2017
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Scientific reports, 2017-07, Vol.7 (1), p.5644-13, Article 5644
2017
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Scientific reports, 2017-08, Vol.7 (1), p.7512-9, Article 7512
2017
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Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
- Sangermano, Riccardo
- Deitch, Iris
- Peter, Virginie G
- Ba-Abbad, Rola
- Place, Emily M
- Zampaglione, Erin
- Wagner, Naomi E
- Fulton, Anne B
- Coutinho-Santos, Luisa
- Rosin, Boris
- Dunet, Vincent
- AlTalbishi, Ala'a
- Banin, Eyal
- Sousa, Ana Berta
- Neves, Mariana
- Larson, Anna
- Quinodoz, Mathieu
- Michaelides, Michel
- Ben-Yosef, Tamar
- Pierce, Eric A
- Rivolta, Carlo
- Webster, Andrew R
- Arno, Gavin
- Sharon, Dror
- Huckfeldt, Rachel M
- Bujakowska, Kinga M
2021
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Genetics in medicine, 2019-08, Vol.21 (8), p.1751-1760
- Sangermano, Riccardo
- Garanto, Alejandro
- Khan, Mubeen
- Runhart, Esmee H
- Bauwens, Miriam
- Bax, Nathalie M
- van den Born, L Ingeborgh
- Khan, Muhammad Imran
- Cornelis, Stéphanie S
- Verheij, Joke B G M
- Pott, Jan-Willem R
- Thiadens, Alberta A H J
- Klaver, Caroline C W
- Puech, Bernard
- Meunier, Isabelle
- Naessens, Sarah
- Arno, Gavin
- Fakin, Ana
- Carss, Keren J
- Raymond, F Lucy
- Webster, Andrew R
- Dhaenens, Claire-Marie
- Stöhr, Heidi
- Grassmann, Felix
- Weber, Bernhard H F
- Hoyng, Carel B
- De Baere, Elfride
- Albert, Silvia
- Collin, Rob W J
- Cremers, Frans P M
2019
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European journal of human genetics : EJHG, 2017-06, Vol.25 (6), p.719-724
2017
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European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1318-1327
2015
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European journal of human genetics : EJHG, 2018-05, Vol.26 (5), p.687-694
2018
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A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy
2021
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Nature genetics, 2012-09, Vol.44 (9), p.1040-1045
- FALK, Marni J
- QI ZHANG
- STANISZEWSKA, Magdalena
- SHUKLA, Rachna
- PALAVALLI, Lakshmi
- MOHAND-SAID, Saddek
- WASEEM, Naushin H
- JALALI, Subhadra
- PERIN, Juan C
- PLACE, Emily
- OSTROVSKY, Julian
- RUI XIAO
- NAKAMARU-OGISO, Eiko
- BHATTACHARYA, Shomi S
- CONSUGAR, Mark
- WEBSTER, Andrew R
- SAHEL, José-Alain
- MOORE, Anthony T
- BERSON, Eliot L
- QIN LIU
- XIAOWU GAI
- PIERCE, Eric A
- KANNABIRAN, Chitra
- FONSECA-KELLY, Zoe
- CHAKAROVA, Christina
- AUDO, Isabelle
- MACKAY, Donna S
- ZEITZ, Christina
- DEV BORMAN, Arundhati
2012
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Scientific reports, 2020-01, Vol.10 (1), p.1289-1289, Article 1289
2020
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Eye (London), 2018-09, Vol.32 (9), p.1542-1543
2018
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Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa
2020
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Eye (London), 2020-03, Vol.34 (3), p.577-583
2020
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Genetics in medicine, 2021-03, Vol.23 (3), p.488-497
2021
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European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.572-572
2014
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European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.1209-1213
2013
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Scientific reports, 2016-09, Vol.6 (1), p.33792-33792, Article 33792
2016
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Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration
1998
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European journal of human genetics : EJHG, 2012-05, Vol.20 (5), p.4-4
2012
Link zum Volltext
Nature cell biology, 2015-08, Vol.17 (8), p.1074
- Wheway, Gabrielle
- Schmidts, Miriam
- Mans, Dorus A
- Szymanska, Katarzyna
- Nguyen, Thanh-Minh T
- Racher, Hilary
- Phelps, Ian G
- Toedt, Grischa
- Kennedy, Julie
- Wunderlich, Kirsten A
- Sorusch, Nasrin
- Abdelhamed, Zakia A
- Natarajan, Subaashini
- Herridge, Warren
- van Reeuwijk, Jeroen
- Horn, Nicola
- Boldt, Karsten
- Parry, David A
- Letteboer, Stef J F
- Roosing, Susanne
- Adams, Matthew
- Bell, Sandra M
- Bond, Jacquelyn
- Higgins, Julie
- Morrison, Ewan E
- Tomlinson, Darren C
- Slaats, Gisela G
- van Dam, Teunis J P
- Huang, Lijia
- Kessler, Kristin
- Giessl, Andreas
- Logan, Clare V
- Boyle, Evan A
- Shendure, Jay
- Anazi, Shamsa
- Aldahmesh, Mohammed
- Al Hazzaa, Selwa
- Hegele, Robert A
- Ober, Carole
- Frosk, Patrick
- Mhanni, Aizeddin A
- Chodirker, Bernard N
- Chudley, Albert E
- Lamont, Ryan
- Bernier, Francois P
- Beaulieu, Chandree L
- Gordon, Paul
- Pon, Richard T
- Donahue, Clem
- Barkovich, A James
- Wolf, Louis
- Toomes, Carmel
- Thiel, Christian T
- Boycott, Kym M
- McKibbin, Martin
- Inglehearn, Chris F
- Stewart, Fiona
- Omran, Heymut
- Huynen, Martijn A
- Sergouniotis, Panagiotis I
- Alkuraya, Fowzan S
- Parboosingh, Jillian S
- Innes, A Micheil
- Willoughby, Colin E
- Giles, Rachel H
- Webster, Andrew R
- Ueffing, Marius
- Blacque, Oliver
- Gleeson, Joseph G
- Wolfrum, Uwe
- Beales, Philip L
- Gibson, Toby
- Doherty, Dan
- Mitchison, Hannah M
- Roepman, Ronald
- Johnson, Colin A
2015
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Scientific reports, 2021-10, Vol.11 (1), p.20607-20607, Article 20607
- Rowlands, Charlie
- Thomas, Huw B
- Lord, Jenny
- Wai, Htoo A
- Arno, Gavin
- Beaman, Glenda
- Sergouniotis, Panagiotis
- Gomes-Silva, Beatriz
- Campbell, Christopher
- Gossan, Nicole
- Hardcastle, Claire
- Webb, Kevin
- O'Callaghan, Christopher
- Hirst, Robert A
- Ramsden, Simon
- Jones, Elizabeth
- Clayton-Smith, Jill
- Webster, Andrew R
- Douglas, Andrew G L
- O'Keefe, Raymond T
- Newman, William G
- Baralle, Diana
- Black, Graeme C M
- Ellingford, Jamie M
2021
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Nature genetics, 2015-07, Vol.47 (7), p.757-765
- Kohl, Susanne
- Zobor, Ditta
- Chiang, Wei-Chieh
- Weisschuh, Nicole
- Staller, Jennifer
- Gonzalez Menendez, Irene
- Chang, Stanley
- Beck, Susanne C
- Garcia Garrido, Marina
- Sothilingam, Vithiyanjali
- Seeliger, Mathias W
- Stanzial, Franco
- Benedicenti, Francesco
- Inzana, Francesca
- Héon, Elise
- Vincent, Ajoy
- Beis, Jill
- Strom, Tim M
- Rudolph, Günther
- Roosing, Susanne
- Hollander, Anneke I den
- Cremers, Frans P M
- Lopez, Irma
- Ren, Huanan
- Moore, Anthony T
- Webster, Andrew R
- Michaelides, Michel
- Koenekoop, Robert K
- Zrenner, Eberhart
- Kaufman, Randal J
- Tsang, Stephen H
- Wissinger, Bernd
- Lin, Jonathan H
2015
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