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Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans Bouasker, Samir; Patel, Nisha; Greenlees, Rebecca; Wellesley, Diana; Taie, Lucas Fares; Almontashiri, Naif A.; Baptista, Julia; Alghamdi, Malak Ali; Boissel, Sarah; Martinovic, Jelena; Prokudin, Ivan; Holden, Samantha; Mudhar, Hardeep-Singh; Riley, Lisa G.; Nassif, Christina; Attie-Bitach, Tania; Miguet, Marguerite; Delous, Marion; Ernest, Sylvain; Plaisancie, Julie; Calvas, Patrick; Rozet, Jean-Michel; Khan, Arif O.; Hamdan, Fadi F.; Jamieson, Robyn, V; Alkuraya, Fowzan S.; Michaud, Jacques L.; Chassaing, Nicolas 分享 收藏
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits Zha, Congyao; Farah, Carole A.; Holt, Richard J.; Ceroni, Fabiola; Al-Abdi, Lama; Thuriot, Fanny; Khan, Arif O.; Helaby, Rana; Levesque, Sebastien; Alkuraya, Fowzan S.; Kraus, Alison; Ragge, Nicola K.; Sossin, Wayne S. 分享 收藏
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans Whitman, Mary C.; Miyake, Noriko; Nguyen, Elaine H.; Bell, Jessica L.; Ruiz, Paola M. Matos; Chan, Wai-Man; Di Gioia, Silvio Alessandro; Mukherjee, Nisha; Barry, Brenda J.; Bosley, T. M.; Khan, Arif O.; Engle, Elizabeth C. 分享 收藏
Expanding the phenome and variome of skeletal dysplasia Maddirevula, Sateesh; Alsahli, Saud; Alhabeeb, Lamees; Patel, Nisha; Alzahrani, Fatema; Shamseldin, Hanan E.; Anazi, Shams; Ewida, Nour; Alsaif, Hessa S.; Mohamed, Jawahir Y.; Alazami, Anas M.; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Abouelhoda, Mohamed; Monies, Dorota; Al Tassan, Nada; Alshammari, Muneera; Alsagheir, Afaf; Seidahmed, Mohammed Zain; Sogati, Samira; Aglan, Mona S.; Hamad, Muddathir H.; Salih, Mustafa A.; Hamed, Ahlam A.; Alhashmi, Nadia; Nabil, Amira; Alfadli, Fatima; Abdel-Salam, Ghada M. H.; Alkuraya, Hisham; Peitee, Winnie Ong; Keng, W. T.; Qasem, Abdullah; Mushiba, Aziza M.; Zaki, Maha S.; Fassad, Mahmoud R.; Alfadhel, Majid; Alexander, Saji; Sabr, Yasser; Temtamy, Samia; Ekbote, Alka V.; Ismail, Samira; Hosny, Gamal Ahmed; Otaify, Ghada A.; Amr, Khalda; Al Tala, Saeed; Khan, Arif O.; Rizk, Tamer; Alaqeel, Aida; Alsiddiky, Abdulmonem; Singh, Ankur; Kapoor, Seema; Alhashem, Amal; Faqeih, Eissa; Shaheen, Ranad; Alkuraya, Fowzan S. 分享 收藏
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A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation Patel, Nisha; Khan, Arif O.; Al-Saif, Maher; Moghrabi, Walid N.; AlMaarik, Balsam M.; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Alshidi, Tarfa; Alobeid, Eman; Alomar, Rana A.; Al-Harbi, Saad; Abouelhoda, Mohamed; Khabar, Khalid S. A.; Alkuraya, Fowzan S. 分享 收藏
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish Van De Weghe, Julie C.; Rusterholz, Tamara D. S.; Latour, Brooke; Grout, Megan E.; Aldinger, Kimberly A.; Shaheen, Ranad; Dempsey, Jennifer C.; Maddirevula, Sateesh; Cheng, Yong-Han H.; Phelps, Ian G.; Gesemann, Matthias; Goel, Himanshu; Birk, Ohad S.; Alanzi, Talal; Rawashdeh, Rifaat; Khan, Arif O.; Bamshad, Michael J.; Nickerson, Deborah A.; Neuhauss, Stephan C. F.; Dobyns, William B.; Alkuraya, Fowzan S.; Roepman, Ronald; Bachmann-Gagescu, Ruxandra; Doherty, Dan 分享 收藏
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula Khan, Arif O.; Becirovic, Elvir; Betz, Christian; Neuhaus, Christine; Altmueller, Janine; Riedmayr, Lisa Maria; Motameny, Susanne; Nuernberg, Gudrun; Nuernberg, Peter; Bolz, Hanno J. 分享 收藏
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome Patel, Nisha; Shamseldin, Hanan E.; Sakati, Nadia; Khan, Arif O.; Softa, Ameen; Al-Fadhli, Fatima M.; Hashem, Mais; Abdulwahab, Firdous M.; Alshidi, Tarfa; Alomar, Rana; Alobeid, Eman; Wakil, Salma M.; Colak, Dilek; Alkuraya, Fowzan S. 分享 收藏
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Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract Patel, Nisha; Anand, Deepti; Monies, Dorota; Maddirevula, Sateesh; Khan, Arif O.; Algoufi, Talal; Alowain, Mohammed; Faqeih, Eissa; Alshammari, Muneera; Qudair, Ahmed; Alsharif, Hadeel; Aljubran, Fatimah; Alsaif, Hessa S.; Ibrahim, Niema; Abdulwahab, Firdous M.; Hashem, Mais; Alsedairy, Haifa; Aldahmesh, Mohammed A.; Lachke, Salil A.; Alkuraya, Fowzan S. 分享 收藏
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Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus 家族性圆锥角膜中罕见ZNF469变异的脆性角膜综合征ZNF469突变携带者表型和分离分析 Davidson, Alice E.; Borasio, Edmondo; Liskova, Petra; Khan, Arif O.; Hassan, Hala; Cheetham, Michael E.; Plagnol, Vincent; Alkuraya, Fowzan S.; Tuft, Stephen J.; Hardcastle, Alison J. 分享 收藏
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