未登录 Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria 简化Bardet-Biedl综合征的诊断：具有更新标准的新的诊断算法 Pomeroy, Jeremy J.; Richards, Jesse; Sweeney, Brooke R.; Kumar, Seema; Queen, Katie E.; Zaritsky, Joshua; Cramer, Carl H.; Traboulsi, Elias I.; Scruggs, Brittni A.; Davis, Erica E.; Keifer, Ekaterina; McGibbon, Emma; Ogden, Timothy; De Graaf, Bendert; Hymers, Tonia; Forsythe, Elizabeth; Beales, Philip 分享 收藏
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Exome sequencing in a Pakistani male infertility cohort: perspective on molecular diagnosis, genetic heterogeneity, and diagnostic yield 巴基斯坦男性不育队列的外显子测序：分子诊断、遗传异质性和诊断产率的视角 Zhou, Dapeng; Fatima, Ambrin; Ahmed, Afrasiab; Afridi, Tehseen Ullah Khan; Khan, Haq Nawaz; Ashraf, Mussarat; Naeem, Muhammad; Jamal, Syed Babar; Hassan, Ishtiaq; Davis, Erica E.; Zhang, Feng; Rehman, Rehana; Liu, Chunyu; Khan, Tahir N. 分享 收藏
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Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders Sun, Bang; Stamou, Maria, I; Stockman, Sara L.; Campbell, Mark B.; Plummer, Lacey; Salnikov, Kathryn B.; Kotan, Leman Damla; Topaloglu, A. Kemal; Hisama, Fuki M.; Davis, Erica E.; Seminara, Stephanie B.; Balasubramanian, Ravikumar 分享 收藏
Identification of Environmental Compounds That May Trigger Early Female Puberty by Activating Human GnRHR and KISS1R Yang, Shu; Zhang, Li; Khan, Kamal; Travers, Jameson; Huang, Ruili; Jovanovic, Vukasin M.; Veeramachaneni, Rithvik; Sakamuru, Srilatha; Tristan, Carlos A.; Davis, Erica E.; Klumpp-Thomas, Carleen; Witt, Kristine L.; Simeonov, Anton; Shaw, Natalie D.; Xia, Menghang 分享 收藏
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants Fellmann, Florence; Saunders, Carol; O'Donohue, Marie-Francoise; Reid, David W.; Mcfadden, Kelsey A.; Montel-Lehry, Nathalie; Yu, Cong; Fang, Mingyan; Zhang, Jianguo; Royer-Bertrand, Beryl; Farinelli, Pietro; Karboul, Narjesse; Willer, Jason R.; Fievet, Lorraine; Bhuiyan, Zahurul Alam; Kleinhenz, Alissa L. W.; Jadeau, Julie; Fulbright, Joy; Rivolta, Carlo; Renella, Raffaele; Katsanis, Nicholas; Beckmann, Jacques S.; V. Nicchitta, Christopher; Da Costa, Lydie; Davis, Erica E.; Gleizes, Pierre-Emmanuel 分享 收藏
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability Roychaudhury, Arkaprava; Lee, Yu-Ri; Choi, Tae-Ik; Thomas, Mervyn G.; Khan, Tahir N.; Yousaf, Hammad; Skinner, Cindy; Maconachie, Gail; Crosier, Moira; Horak, Holli; Constantinescu, Cris S.; Kim, Tae-Yoon; Lee, Kang-Han; Kyung, Jae-Jun; Wang, Tao; Ku, Bonsu; Chodirker, Bernard N.; Hammer, Michael F.; Gottlob, Irene; Norton, William H. J.; Gerlai, Robert; Kim, Hyung-Goo; Graziano, Claudio; Pippucci, Tommaso; Iovino, Emanuela; Montanari, Francesca; Severi, Giulia; Toro, Camilo; Boerkoel, Cornelius F.; Cha, Hyo Sun; Choi, Cheol Yong; Kim, Sungjin; Yoon, Je-Hyun; Gilmore, Kelly; Vora, Neeta L.; Davis, Erica E.; Chudley, Albert E.; Schwartz, Charles E.; Kim, Cheol-Hee 分享 收藏
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities Scala, Marcello; Khan, Kamal; Beneteau, Claire; Fox, Rachel G.; von Hardenberg, Sandra; Khan, Ayaz; Joubert, Madeleine; Fievet, Lorraine; Musquer, Marie; Le Vaillant, Claudine; Holsclaw, Julie Korda; Lim, Derek; Berking, Ann-Cathrine; Accogli, Andrea; Giacomini, Thea; Nobili, Lino; Striano, Pasquale; Zara, Federico; Torella, Annalaura; Nigro, Vincenzo; Cogne, Benjamin; Salick, Max R.; Kaykas, Ajamete; Eggar, Kevin; Capra, Valeria; Bezieau, Stephane; Davis, Erica E.; Wells, Michael F. 分享 收藏
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The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay Lippincott, Margaret F.; Xu, Wanxue; Smith, Abigail A.; Miao, Xinyu; Lafont, Agathe; Shennib, Omar; Farley, Gordon J.; Sabbagh, Riwa; Delaney, Angela; Stamou, Maria; Plummer, Lacey; Salnikov, Kathryn; Georgopoulos, Neoklis A.; Mericq, Veronica; Quinton, Richard; Mau-Them, Frederic Tran; Nambot, Sophie; Hamad, Asma; Brittain, Helen; Tooze, Rebecca S.; Calpena, Eduardo; Wilkie, Andrew O. M.; Willems, Marjolaine; Crowley, William F.; Balasubramanian, Ravikumar; Lamarche-Vane, Nathalie; Davis, Erica E.; Seminara, Stephanie B. 分享 收藏
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy Grange, Laura J.; Reynolds, John J.; Ullah, Farid; Isidor, Bertrand; Shearer, Robert F.; Latypova, Xenia; Baxley, Ryan M.; Oliver, Antony W.; Ganesh, Anil; Cooke, Sophie L.; Jhujh, Satpal S.; McNee, Gavin S.; Hollingworth, Robert; Higgs, Martin R.; Natsume, Toyoaki; Khan, Tahir; Martos-Moreno, Gabriel A.; Chupp, Sharon; Mathew, Christopher G.; Parry, David; Simpson, Michael A.; Nahavandi, Nahid; Yuksel, Zafer; Drasdo, Mojgan; Kron, Anja; Vogt, Petra; Jonasson, Annemarie; Seth, Saad Ahmed; Gonzaga-Jauregui, Claudia; Brigatti, Karlla W.; Stegmann, Alexander P. A.; Kanemaki, Masato; Josifova, Dragana; Uchiyama, Yuri; Oh, Yukiko; Morimoto, Akira; Osaka, Hitoshi; Ammous, Zineb; Argente, Jesus; Matsumoto, Naomichi; Stumpel, Constance T. R. M.; Taylor, Alexander M. R.; Jackson, Andrew P.; Bielinsky, Anja-Katrin; Mailand, Niels; Le Caignec, Cedric; Davis, Erica E.; Stewart, Grant S. 分享 收藏
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HEK293T Cells with TFAM Disruption by CRISPR-Cas9 as a Model for Mitochondrial Regulation CRISPR-Cas9破坏TFAM的HEK293T细胞作为线粒体调控模型 de Oliveira, Vanessa Cristina; Santos Roballo, Kelly Cristine; Mariano Junior, Clesio Gomes; Santos, Sarah Ingrid Pinto; Bressan, Fabiana Fernandes; Chiaratti, Marcos Roberto; Tucker, Elena J.; Davis, Erica E.; Concordet, Jean-Paul; Ambrosio, Carlos Eduardo 分享 收藏
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss Ullah, Farid; Rauf, Waqar; Khan, Kamal; Khan, Sheraz; Bell, Katrina M.; de Oliveira, Vanessa Cristina; Tariq, Muhammad; Bakhshalizadeh, Shabnam; Touraine, Philippe; Katsanis, Nicholas; Sinclair, Andrew; He, Sijie; Tucker, Elena J.; Baig, Shahid M.; Davis, Erica E. 分享 收藏
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder Latypova, Xenia; Vincent, Marie; Molle, Alice; Adebambo, Oluwadamilare A.; Fourgeux, Cynthia; Khan, Tahir N.; Caro, Alfonso; Rosello, Monica; Orellana, Carmen; Niyazov, Dmitriy; Lederer, Damien; Deprez, Marie; Capri, Yline; Kannu, Peter; Tabet, Anne Claude; Levy, Jonathan; Aten, Emmelien; den Hollander, Nicolette; Splitt, Miranda; Walia, Jagdeep; Immken, Ladonna L.; Stankiewicz, Pawel; McWalter, Kirsty; Suchy, Sharon; Louie, Raymond J.; Bell, Shannon; Stevenson, Roger E.; Rousseau, Justine; Willem, Catherine; Retiere, Christelle; Yang, Xiang-Jiao; Campeau, Philippe M.; Martinez, Francisco; Rosenfeld, Jill A.; Le Caignec, Cedric; Kury, Sebastien; Mercier, Sandra; Moradkhani, Kamran; Conrad, Solene; Besnard, Thomas; Cogne, Benjamin; Katsanis, Nicholas; Bezieau, Stephane; Poschmann, Jeremie; Davis, Erica E.; Isidor, Bertrand 分享 收藏
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