未登录The genetic spectrum of achromatopsia in consanguineous families: insights from Whole exome sequencing across 15 affected individuals近亲结婚家庭中全色盲的遗传谱：基于15例受影响个体全外显子测序的见解
Sonehra; Zaman, Qaiser; Gul, Hina; Najumuddin; Khan, Waqas; Shaker, Bilal; Ghani, Gul; Hussain, Mubarak; Owais, Muhammad; Chaudhary, Hammad Tufail; Anas, Muhammad; ul Haq, Ihtisham; Khan, Sabar; Khan, Zohaib; Ahmad, Fuzail; Rahman, Gauhar; Muhammad Khan, Rafiq; Nasir, Jamal; Jelani, Musharraf .png)
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收藏Carboxypeptidase D deficiency causes hearing loss amenable to treatment羧肽酶D缺乏导致可治疗的听力损失Ramzan, Memoona; Ortiz-Vega, Natalie; Zafeer, Mohammad Faraz; Lobato, Amanda G.; Atik, Tahir; Abad, Clemer; Vadgama, Nirmal; Duman, Duygu; Bozan, Nazim; Durmusalioglu, Enise Avci; Greene, Sunny; Guo, Shengru; Tokgoz-Yilmaz, Suna; Yekeduz, Merve Koc; Eminoglu, Fatma Tuba; Aydin, Mehmet; Seyhan, Serhat; Karakikes, Ioannis; Camarena, Vladimir; Robayo, Maria Camila; Canic, Tijana; Bademci, Guney; Wang, Gaofeng; Farooq, Amjad; Joiner, Mei-ling; Walz, Katherina; Eberl, Daniel F.; Nasir, Jamal; Zhai, R. Grace; Tekin, Mustafa 分享 收藏 分享 收藏 Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction (vol 144, 109049, 2025)遗传分析与多模态成像证实 m.12148 T>C 线粒体变异的致病性导致多系统功能障碍 (vol 144, 109049, 2025)Belle, Kinsley; Kreymerman, Alexander; Young, Jill L.; Vadgama, Nirmal; Ji, Marco H.; Randhawa, Sandeep; Caicedo, Juan; Wong, Megan; Muscat, Stephanie P.; Gifford, Casey A.; Lee, Richard T.; Nasir, Jamal; Enns, Gregory M.; Karakikes, Ioannis; Schaefer, Andrew M.; Taylor, Robert W.; Mercola, Mark; Koeberl, Dwight; Wood, Edward H. 分享 收藏 Genetic analysis and multimodal imaging confirm m.12148 T> C mitochondrial variant pathogenicity leading to multisystem dysfunctionBelle, Kinsley; Kreymerman, Alexander; Young, Jill L.; Vadgama, Nirmal; Ji, Marco H.; Randhawa, Sandeep; Caicedo, Juan; Wong, Megan; Muscat, Stephanie P.; Gifford, Casey A.; Lee, Richard T.; Nasir, Jamal; Enns, Gregory M.; Karakikes, Ioannis; Schaefer, Andrew M.; Taylor, Robert W.; Mercola, Mark; Koeberl, Dwight; Wood, Edward H. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and miceBademci, Guney; Lachgar-Ruiz, Maria; Deokar, Mangesh; Zafeer, Mohammad Faraz; Abad, Clemer; Baylan, Muzeyyen Yildirim; Ingham, Neil J.; Chen, Jing; Sineni, Claire J.; Vadgama, Nirmal; Karakikes, Ioannis; Guo, Shengru; Duman, Duygu; Singh, Nitu; Harlalka, Gaurav; Jain, Shirish P.; Chioza, Barry A.; Walz, Katherina; Steel, Karen P.; Nasir, Jamal; Tekin, Mustafa 分享 收藏 The Data Use Ontology to streamline responsible access to human biomedical datasets数据使用本体来简化对人类生物医学数据集的负责任访问Lawson, Jonathan; Cabili, Moran N.; Kerry, Giselle; Boughtwood, Tiffany; Thorogood, Adrian; Alper, Pinar; Bowers, Sarion R.; Boyles, Rebecca R.; Brookes, Anthony J.; Brush, Matthew; Burdett, Tony; Clissold, Hayley; Donnelly, Stacey; Dyke, Stephanie O. M.; Freeberg, Mallory A.; Haendel, Melissa A.; Hata, Chihir; Holub, Petr; Jeanson, Francis; Jene, Aina; Kawashima, Minae; Kawashima, Shuichi; Konopko, Melissa; Kyomugisha, Irene; Li, Haoyuan; Linden, Mikael; Rodriguez, Laura Lyman; Morita, Mizuki; Mulder, Nicola; Muller, Jean; Nagaie, Satoshi; Nasir, Jamal; Ogishima, Soichi; Wang, Vivian Ota; Paglione, Laura D.; Pandya, Ravi N.; Parkinson, Helen; Philippakis, Anthony A.; Prasser, Fabian; Rambla, Jordi; Reinold, Kathy; Rushton, Gregory A.; Saltzman, Andrea; Saunders, Gary; Sofia, Heidi J.; Spalding, John D.; Swertz, Morris A.; Tulchinsky, Ilia; Enckevort, Esther J. van; Varma, Susheel; Voisin, Craig; Yamamoto, Natsuko; Yamasaki, Chisato; Zass, Lyndon; Auvil, Jaime M. Guidry; Nyronen, Tommi H.; Courtot, Melanie 分享 收藏 GA4GH: International policies and standards for data sharing across genomic research and healthcareGA4GH: 跨基因组研究和医疗保健的数据共享的国际政策和标准Rehm, Heidi L.; Page, Angela J. H.; Smith, Lindsay; Adams, Jeremy B.; Alterovitz, Gil; Babb, Lawrence J.; Barkley, Maxmillian P.; Baudis, Michael; Beauvais, Michael J. S.; Beck, Tim; Beckmann, Jacques S.; Beltran, Sergi; Bernick, David; Bernier, Alexander; Bonfield, James K.; Boughtwood, Tiffany F.; Bourque, Guillaume; Bowers, Sarion R.; Brookes, Anthony J.; Brudno, Michael; Brush, Matthew H.; Bujold, David; Burdett, Tony; Buske, Orion J.; Cabili, Moran N.; Cameron, Daniel L.; Carroll, Robert J.; Casas-Silva, Esmeralda; Chakravarty, Debyani; Chaudhari, Bimal P.; Chen, Shu Hui; Cherry, J. Michael; Chung, Justina; Cline, Melissa; Clissold, Hayley L.; Cook-Deegan, Robert M.; Courtot, Melanie; Cunningham, Fiona; Cupak, Miro; Davies, Robert M.; Denisko, Danielle; Doerr, Megan J.; Dolman, Lena I.; Dove, Edward S.; Dursi, L. Jonathan; Dyke, Stephanie O. M.; Eddy, James A.; Eilbeck, Karen; Ellrott, Kyle P.; Fairley, Susan; Fakhro, Khalid A.; Firth, Helen V.; Fitzsimons, Michael S.; Fiume, Marc; Flicek, Paul; Fore, Ian M.; Freeberg, Mallory A.; Freimuth, Robert R.; Fromont, Lauren A.; Fuerth, Jonathan; Gaff, Clara L.; Gan, Weiniu; Ghanaim, Elena M.; Glazer, David; Green, Robert C.; Griffith, Malachi; Griffith, Obi L.; Grossman, Robert L.; Groza, Tudor; Auvil, Jaime M. Guidry; Guigo, Roderic; Gupta, Dipayan; Haendel, Melissa A.; Hamosh, Ada; Hansen, David P.; Hart, Reece K.; Hartley, Dean Mitchell; Haussler, David; Hendricks-Sturrup, Rachele M.; Ho, Calvin W. L.; Hobb, Ashley E.; Hoffman, Michael M.; Hofmann, Oliver M.; Holub, Petr; Hsu, Jacob Shujui; Hubaux, Jean-Pierre; Hunt, Sarah E.; Husami, Ammar; Jacobsen, Julius O.; Jamuar, Saumya S.; Janes, Elizabeth L.; Jeanson, Francis; Jene, Aina; Johns, Amber L.; Joly, Yann; Jones, Steven J. M.; Kanitz, Alexander; Kato, Kazuto; Keane, Thomas M.; Kekesi-Lafrance, Kristina; Kelleher, Jerome; Kerry, Giselle; Khor, Seik-Soon; Knoppers, Bartha M.; Konopko, Melissa A.; Kosaki, Kenjiro; Kuba, Martin; Lawson, Jonathan; Leinonen, Rasko; Li, Stephanie; Lin, Michael F.; Linden, Mikael; Liu, Xianglin; Liyanage, Isuru Udara; Lopez, Javier; Lucassen, Anneke M.; Lukowski, Michael; Mann, Alice L.; Marshall, John; Mattioni, Michele; Metke-Jimenez, Alejandro; Middleton, Anna; Milne, Richard J.; Molnar-Gabor, Fruzsina; Mulder, Nicola; Munoz-Torres, Monica C.; Nag, Rishi; Nakagawa, Hidewaki; Nasir, Jamal; Navarro, Arcadi; Nelson, Tristan H.; Niewielska, Ania; Nisselle, Amy; Niu, Jeffrey; Nyronen, Tommi H.; O'Connor, Brian D.; Oesterle, Sabine; Ogishima, Soichi; Wang, Vivian Ota; Paglione, Laura A. D.; Palumbo, Emilio; Parkinson, Helen E.; Philippakis, Anthony A.; Pizarro, Angel D.; Prlic, Andreas; Rambla, Jordi; Rendon, Augusto; Rider, Renee A.; Robinson, Peter N.; Rodarmer, Kurt W.; Rodriguez, Laura Lyman; Rubin, Alan F.; Rueda, Manuel; Rushton, Gregory A.; Ryan, Rosalyn S.; Saunders, Gary I.; Schuilenburg, Helen; Schwede, Torsten; Scollen, Serena; Senf, Alexander; Sheffield, Nathan C.; Skantharajah, Neerjah; Smith, Albert V.; Sofia, Heidi J.; Spalding, Dylan; Spurdle, Amanda B.; Stark, Zornitza; Stein, Lincoln D.; Suematsu, Makoto; Tan, Patrick; Tedds, Jonathan A.; Thomson, Alastair A.; Thorogood, Adrian; Tickle, Timothy L.; Tokunaga, Katsushi; Tomroos, Juha; Torrents, David; Upchurch, Sean; Valencia, Alfonso; Guimera, Roman Valls; Vamathevan, Jessica; Varma, Susheel; Vears, Danya F.; Viner, Coby; Voisin, Craig; Wagner, Alex H.; Wallace, Susan E.; Walsh, Brian P.; Williams, Marc S.; Winkler, Eva C.; Wold, Barbara J.; Wood, Grant M.; Woolley, J. Patrick; Yamasaki, Chisato; Yates, Andrew D.; Yung, Christina K.; Zass, Lyndon J.; Zaytseva, Ksenia; Zhang, Junjun; Goodhand, Peter; North, Kathryn; Birney, Ewan 分享 收藏 分享 收藏 分享 收藏 A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalitiesJelani, Musharraf; Dooley, Hannah C.; Gubas, Andrea; Mohamoud, Hussein Sheikh Ali; Khan, Muhammad Tariq Masood; Ali, Zahir; Kang, Changsoo; Rahim, Fazal; Jan, Amin; Vadgama, Nirmal; Khan, Muhammad Ismail; Al-Aama, Jumana Yousuf; Khan, Asifullah; Tooze, Sharon A.; Nasir, Jamal 分享 收藏 De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genesVadgama, Nirmal; Pittman, Alan; Simpson, Michael; Nirmalananthan, Niranjanan; Murray, Robin; Yoshikawa, Takeo; De Rijk, Peter; Rees, Elliott; Kirov, George; Hughes, Deborah; Fitzgerald, Tomas; Kristiansen, Mark; Pearce, Kerra; Cerveira, Eliza; Zhu, Qihui; Zhang, Chengsheng; Lee, Charles; Hardy, John; Nasir, Jamal 分享 收藏 分享 收藏 A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic featuresMohamoud, Hussein Sheikh; Ahmed, Saleem; Jelani, Musharraf; Alrayes, Nuha; Childs, Kay; Vadgama, Nirmal; Almramhi, Mona Mohammad; Al-Aama, Jumana Yousuf; Goodbourn, Steve; Nasir, Jamal 分享 收藏 The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi familyAlrayes, Nuha; Mohamoud, Hussein Sheikh Ali; Ahmed, Saleem; Almramhi, Mona Mohammad; Shuaib, Taghreed Mohammad; Wang, Jun; Al-Aama, Jumana Yousuf; Everett, Kate; Nasir, Jamal; Jelani, Musharraf 分享 收藏 Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3外显子组分析在一个近亲的沙特家族中发现了CLPP基因的新型错义突变，扩大了3型Perrault综合征的临床范围Ahmed, Saleem; Jelani, Musharraf; Alrayes, Nuha; Mohamoud, Hussein Sheikh Ali; Almramhi, Mona Mohammad; Anshasi, Wasim; Ahmed, Naushad Ali Basheer; Wang, Jun; Nasir, Jamal; Al-Aama, Jumana Yousuf 分享 收藏 分享 收藏 
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