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The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease ADAMTSL4相关眼病的表型和基因型特征 Williams, Katie M.; Berger, Wolfgang; Koller, Samuel; Pfiffner, Fatma Kivrak; Maspoli, Alessandro; Gloggnitzer, Jiradet; Bruhwiler, Britta V. T.; Stathopoulos, Christina; Munier, Francis; Allen, Louise; Iosifidis, Christos; Black, Graeme C.; Sergouniotis, Panagiotis I.; Lloyd, Ian Christopher; Gerth-kahlert, Christina 分享 收藏
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From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation 从苍白到白化病：OCA2外显子10跳读对色素减少的贡献 Mercier, Elina; Tregouet, David-Alexandre; Campagne, Sebastien; Michaud, Vincent; Green, David J.; Mesdaghi, Shahram; Le Gallais, Orane; Jouannigot-Castano, Orphee; Rigden, Daniel J.; Estay-Ahumada, Catherine; Hicks, David; Sergouniotis, Panagiotis I.; Arveiler, Benoit; Javerzat, Sophie 分享 收藏
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Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy Kaminska, Karolina; Cancellieri, Francesca; Quinodoz, Mathieu; Moye, Abigail R.; Bauwens, Miriam; Lin, Siying; Janeschitz-Kriegl, Lucas; Hayman, Tamar; Barberan-Martinez, Pilar; Schlaeger, Regina; van den Broeck, Filip; Fernandez, Almudena Avila; Fernandez-Caballero, Lidia; Perea-Romero, Irene; Garcia-Garcia, Gema; Salom, David; Mazzola, Pascale; Zuleger, Theresia; Poths, Karin; Haack, Tobias B.; Jacob, Julie; Vermeer, Sascha; Terbeek, Frederique; Feltgen, Nicolas; Moulin, Alexandre P.; Koutroumanou, Louisa; Papadakis, George; Browning, Andrew C.; Madhusudhan, Savita; Granse, Lotta; Banin, Eyal; Sousa, Ana Berta; Santos, Luisa Coutinho; Kuehlewein, Laura; De Angeli, Pietro; Leroy, Bart P.; Mahroo, Omar A.; Sedgwick, Fay; Eden, James; Pfau, Maximilian; Andreasson, Sten; Scholl, Hendrik P. N.; Ayuso, Carmen; Millan, Jose M.; Sharon, Dror; Tsilimbaris, Miltiadis K.; Vaclavik, Veronika; Tran, Hoai, V; Ben-Yosef, Tamar; De Baere, Elfride; Webster, Andrew R.; Arno, Gavin; Sergouniotis, Panagiotis I.; Kohl, Susanne; Santos, Cristina; Rivolta, Carlo 分享 收藏
Genome-wide association testing beyond SNPs Harris, Laura; McDonagh, Ellen M.; Zhang, Xiaolei; Fawcett, Katherine; Foreman, Amy; Daneck, Petr; Sergouniotis, Panagiotis I.; Parkinson, Helen; Mazzarotto, Francesco; Inouye, Michael; Hollox, Edward J.; Birney, Ewan; Fitzgerald, Tomas 分享 收藏
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Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group Schmidt, Ryan J.; Steeves, Marcie; Bayrak-Toydemir, Pinar; Benson, Katherine A.; Coe, Bradley P.; Conlin, Laura K.; Ganapathi, Mythily; Garcia, John; Gollob, Michael H.; Jobanputra, Vaidehi; Luo, Minjie; Ma, Deqiong; Maston, Glenn; Mcgoldrick, Kelly; Palculict, T. Blake; Pesaran, Tina; Pollin, Toni I.; Qian, Emily; Rehm, Heidi L.; Riggs, Erin R.; Schilit, Samantha L. P.; Sergouniotis, Panagiotis I.; Tvrdik, Tatiana; Watkins, Nicholas; Zec, Lauren; Zhang, Wenying; Lebo, Matthew S. 分享 收藏
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy 一组回旋萎缩患者的临床，生化和分子分析 Palmer, Eleanor; Stepien, Karolina M.; Campbell, Christopher; Barton, Stephanie; Iosifidis, Christos; Ghosh, Arunabha; Broomfield, Alexander; Woodall, Alison; Wilcox, Gisela; Sergouniotis, Panagiotis I.; Black, Graeme C. 分享 收藏
A multilayered approach to the analysis of genetic data from individuals with suspected albinism Sergouniotis, Panagiotis I.; Michaud, Vincent; Lasseaux, Eulalie; Campbell, Christopher; Plaisant, Claudio; Javerzat, Sophie; Birney, Ewan; Ramsden, Simon C.; Black, Graeme C.; Arveiler, Benoit 分享 收藏
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Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration 全表型孟德尔随机分析确定年龄相关性黄斑变性的致病因素 Julian, Thomas H.; Cooper-Knock, Johnathan; MacGregor, Stuart; Guo, Hui; Aslam, Tariq; Sanderson, Eleanor; Black, Graeme C. M.; Sergouniotis, Panagiotis, I; Smith, Lois E. H. 分享 收藏
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders Lenassi, Eva; Carvalho, Ana; Thormann, Anja; Abrahams, Liam; Arno, Gavin; Fletcher, Tracy; Hardcastle, Claire; Lopez, Javier; Hunt, Sarah E.; Short, Patrick; Sergouniotis, Panagiotis, I; Michaelides, Michel; Webster, Andrew; Cunningham, Fiona; Ramsden, Simon C.; Kasperaviciute, Dalia; Fitzpatrick, David R.; Black, Graeme C.; Ellingford, Jamie M. 分享 收藏
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The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism Michaud, Vincent; Lasseaux, Eulalie; Green, David J.; Gerrard, Dave T.; Plaisant, Claudio; Fitzgerald, Tomas; Birney, Ewan; Arveiler, Benoit; Black, Graeme C.; Sergouniotis, Panagiotis, I 分享 收藏
Clinical and genetic findings in TRPM1-related congenital stationary night blindness Iosifidis, Christos; Liu, Jingshu; Gale, Theodora; Ellingford, Jamie M.; Campbell, Christopher; Ingram, Stuart; Chandler, Kate; Parry, Neil R. A.; Black, Graeme C.; Sergouniotis, Panagiotis, I 分享 收藏
Mast cell infiltration of the choroid and protease release are early events in age-related macular degeneration associated with genetic risk at both chromosomes 1q32 and 10q26 Mcharg, Selina; Booth, Laura; Perveen, Rahat; Garcia, Isabel Riba; Brace, Nicole; Bayatti, Nadhim; Sergouniotis, Panagiotis, I; Phillips, Alexander M.; Day, Anthony J.; Black, Graeme C. M.; Clark, Simon J.; Dowsey, Andrew W.; Unwin, Richard D.; Bishop, Paul N. 分享 收藏
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