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IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy IVNS1ABP基因突变驱动新发现的早衰性神经病变中的细胞衰老 Yuan, Fang; Tan, Ye Sing; Wang, Haofei; Ali, Ain Nur; Yuan, Qiang; Chou, Shu-Min; Yen, Yu-Hsin; Narayanan, Gunaseelan; Zhou, Lei; Shboul, Mohammad; Bonnard, Carine; Reversade, Bruno; Zhang, Su-Chun 分享 收藏
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature FBXO22缺乏定义了一种具有生长受限和多系统异常的累及多系统的综合征，其特征是具有独特的表观遗传标志。 Ramakrishna, NB; Sahari, UB; Johmura, Y; Ali, NA; Alghamdi, M; Bauer, P; Khan, S; Ordoñez, N; Ferreira, M; Basto, JP; Alkuraya, FS; Faqeih, EA; Mori, M; Almontashiri, NAM; Al Shamsi, A; Elghazali, G; Abu Subieh, H; Al Ojaimi, M; El-Hattab, AW; Al-Kindi, SAS; Alhashmi, N; Alhabshan, F; Al Saman, A; Tfayli, H; Arabi, M; Khalifeh, S; Taylor, A; Alfadhel, M; Jain, R; Sinha, S; Shenbagam, S; Ramachandran, R; Altunoglu, U; Jacob, A; Thalange, N; El Bejjani, M; Perrin, A; Shin, JW; Al-Maawali, A; Al-Shidhani, A; Al-Futaisi, A; Rabea, F; Chekroun, I; Almarri, MA; Ohta, T; Nakanishi, M; Alsheikh-Ali, A; Ali, FR; Bertoli-Avella, AM; Reversade, B; Abou Tayoun, A 分享 收藏
CIROZ is dispensable in ancestral vertebrates but essential for left in humans Szenker-Ravi, Emmanuelle; Ott, Tim; Yusof, Amirah; Chopra, Maya; Khatoo, Muznah; Pak, Beatrice; Goh, Wei Xuan; Beckers, Anja; Brady, Angela F.; Ewans, Lisa J.; Djaziri, Nabila; Almontashiri, Naif A. M.; Alghamdi, Malak Ali; Alharby, Essa; Dasouki, Majed; Romo, Lindsay; Tan, Wen-Hann; Maddirevula, Sateesh; Alkuraya, Fowzan S.; Giordano, Jessica L.; Alkelai, Anna; Wapner, Ronald J.; Stals, Karen; Alfadhel, Majid; Alswaid, Abdulrahman Faiz; Bogusch, Susanne; Schafer-Kosulya, Anna; Vogel, Sebastian; Vick, Philipp; Schweickert, Axel; Wakeling, Matthew; Bellaing, Anne Moreau de; Alshamsi, Aisha M.; Sanlaville, Damien; Mbarek, Hamdi; Saad, Chadi; Ellard, Sian; Eisenhaber, Frank; Tripolszki, Kornelia; Beetz, Christian; Bauer, Peter; Gossler, Achim; Eisenhaber, Birgit; Blum, Martin; Bouvagnet, Patrice; Bertoli-Avella, Aida; Amiel, Jeanne; Gordon, Christopher T.; Reversade, Bruno 分享 收藏
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Inhibiting chondroitin sulfate synthase 1 ameliorates hyperplastic arterial remodelling Liao, D.; Mizumoto, S.; Chng, W. S.; Tanudin, I; Motakis, E.; Tian, J.; Gurung, R.; Yamada, S.; Ackers-Johnson, M.; Richards, A. M.; Reversade, B.; Foo, R. S. Y.; Chan, M. Y.; Zhao, R. R.; Koh, C. Y. 分享 收藏
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations Chundru, V. Kartik; Zhang, Zhancheng; Walter, Klaudia; Lindsay, Sarah J.; Danecek, Petr; Eberhardt, Ruth Y.; Gardner, Eugene J.; Malawsky, Daniel S.; Wigdor, Emilie M.; Torene, Rebecca; Retterer, Kyle; Wright, Caroline F.; Olafsdottir, Hildur; Sacoto, Maria J. Guillen; Ayaz, Akif; Akbeyaz, Ismail Hakki; Tuerkdogan, Dilsad; Al Balushi, Aaisha Ibrahim; Bertoli-Avella, Aida; Bauer, Peter; Szenker-Ravi, Emmanuelle; Reversade, Bruno; Mcwalter, Kirsty; Sheridan, Eamonn; Firth, Helen V.; Hurles, Matthew E.; Samocha, Kaitlin E.; Ustach, Vincent D.; Martin, Hilary C. 分享 收藏
ARTICLE DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations Lavillaureix, Alinoe; Rollier, Paul; Kim, Artem; Panasenkava, Veranika; De Tayrac, Marie; Carre, Wilfrid; Guyodo, Helene; Faoucher, Marie; Poirel, Elisabeth; Akloul, Linda; Quelin, Chloe; Whalen, Sandra; Bos, Jessica; Broekema, Marjoleine; van Hagen, Johanna M.; Grand, Katheryn; Allen-Sharpley, Michelle; Magness, Emily; McLean, Scott D.; Kayserili, Hulya; Altunoglu, Umut; Chong, Angie En Qi; Xue, Shifeng; Jeanne, Mederic; Almontashiri, Naif; Habhab, Wisam; Vanlerberghe, Clemence; Faivre, Laurence; Viora-Dupont, Eleonore; Philippe, Christophe; Safraou, Hana; Laffargue, Fanny; Jamra, Rami Abou; Mittendorf, Luise; Patil, Siddaramappa Jagdish; Dalal, Ashwin; Sarma, Asodu Sandeep; Keren, Boris; Reversade, Bruno; Dubourg, Christele; Odent, Sylvie; Dupe, Valerie 分享 收藏
Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity Mbarek, Hamdi; Gordon, Scott D.; Duffy, David L.; Hubers, Nikki; Mortlock, Sally; Beck, Jeffrey J.; Hottenga, Jouke-Jan; Pool, Rene; Dolan, Conor, V; Actkins, Ky'Era, V; Gerring, Zachary F.; Van Dongen, Jenny; Ehli, Erik A.; Iacono, William G.; Mcgue, Matt; Chasman, Daniel, I; Gallagher, C. Scott; Schilit, Samantha L. P.; Morton, Cynthia C.; Pare, Guillaume; Willemsen, Gonneke; Whiteman, David C.; Olsen, Catherine M.; Derom, Catherine; Vlietinck, Robert; Gudbjartsson, Daniel; Cannon-Albright, Lisa; Krapohl, Eva; Plomin, Robert; Magnusson, Patrik K. E.; Pedersen, Nancy L.; Hysi, Pirro; Mangino, Massimo; Spector, Timothy D.; Palviainen, Teemu; Milaneschi, Yuri; Penninnx, Brenda W.; Campos, Adrian, I; Ong, Ken K.; Perry, John R. B.; Lambalk, Cornelis B.; Kaprio, Jaakko; Olafsson, Isleifur; Duroure, Karine; Revenu, Celine; Renteria, Miguel E.; Yengo, Loic; Davis, Lea; Derks, Eske M.; Medland, Sarah E.; Stefansson, Hreinn; Stefansson, Kari; Del Bene, Filippo; Reversade, Bruno; Montgomery, Grant W.; Boomsma, Dorret, I; Martin, Nicholas G. 分享 收藏
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish Derrick, Christopher J.; Szenker-Ravi, Emmanuelle; Santos-Ledo, Adrian; Alqahtani, Ahlam; Yusof, Amirah; Eley, Lorraine; Coleman, Alistair H. L.; Tohari, Sumanty; Ng, Alvin Yu-Jin; Venkatesh, Byrappa; Alharby, Essa; Mansard, Luke; Bonnet-Dupeyron, Marie-Noelle; Roux, Anne-Francoise; Vache, Christel; Roume, Joelle; Bouvagnet, Patrice; Almontashiri, Naif A. M.; Henderson, Deborah J.; Reversade, Bruno; Chaudhry, Bill 分享 收藏
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease Tapia del Fierro, Andres; den Hamer, Bianca; Benetti, Natalia; Jansz, Natasha; Chen, Kelan; Beck, Tamara; Vanyai, Hannah; Gurzau, Alexandra D.; Daxinger, Lucia; Xue, Shifeng; Ly, Thanh Thao Nguyen; Wanigasuriya, Iromi; Iminitoff, Megan; Breslin, Kelsey; Oey, Harald; Krom, Yvonne D.; van der Hoorn, Dinja; Bouwman, Linde F.; Johanson, Timothy M.; Ritchie, Matthew E.; Gouil, Quentin A.; Reversade, Bruno; Prin, Fabrice; Mohun, Timothy; van der Maarel, Silvere M.; Mcglinn, Edwina; Murphy, James M.; Keniry, Andrew; de Greef, Jessica C.; Blewitt, Marnie E. 分享 收藏
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder Westrip, Christian A. E.; Paul, Franziska; Al-Murshedi, Fathiya; Qaitoon, Hashim; Cham, Breana; Fletcher, Sally C.; Hendrix, Eline; Boora, Uncaar; Ng, Alvin Yu Jin; Bonnard, Carine; Najafi, Maryam; Alawbathani, Salem; Lambert, Imelda; Fox, Gabriel; Venkatesh, Byrappa; Bertoli-Avella, Aida; Tan, Ee Shien; Al-Maawali, Almundher; Reversade, Bruno; Coleman, Mathew L. 分享 收藏
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In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype Laberthonniere, Camille; Delourme, Megane; Chevalier, Raphael; Dion, Camille; Ganne, Benjamin; Hirst, David; Caron, Leslie; Perrin, Pierre; Adelaide, Jose; Chaffanet, Max; Xue, Shifeng; Nguyen, Karine; Reversade, Bruno; Dejardin, Jerome; Baudot, Anais; Robin, Jerome D.; Magdinier, Frederique 分享 收藏
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis Wong, Samantha; Tan, Yu Xuan; Loh, Abigail Yi Ting; Tan, Kiat Yi; Lee, Hane; Aziz, Zainab; Nelson, Stanley F.; Ozkan, Engin; Kayserili, Hülya; Escande-Beillard, Nathalie; Reversade, Bruno 分享 收藏
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing Nabavizadeh, Nasrinsadat; Bressin, Annkatrin; Shboul, Mohammad; Traspas, Ricardo Moreno; Chia, Poh Hui; Bonnard, Carine; Szenker-Ravi, Emmanuelle; Saribas, Burak; Beillard, Emmanuel; Altunoglu, Umut; Hojati, Zohreh; Drutman, Scott; Freier, Susanne; El-Khateeb, Mohammad; Fathallah, Rajaa; Casanova, Jean-Laurent; Soror, Wesam; Arafat, Alaa; Escande-Beillard, Nathalie; Mayer, Andreas; Reversade, Bruno 分享 收藏
A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings Li, Mingfeng; Lay, Kenneth; Zimmer, Andreas; Technau-Hafsi, Kristin; Wong, Jasmine; Reimer-Taschenbrecker, Antonia; Rohr, Jan; Abdalla, Ebtesam; Fischer, Judith; Reversade, Bruno; Has, Cristina 分享 收藏
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex Mascibroda, Lauren G.; Shboul, Mohammad; Elrod, Nathan D.; Colleaux, Laurence; Hamamy, Hanan; Huang, Kai-Lieh; Peart, Natoya; Singh, Moirangthem Kiran; Lee, Hane; Merriman, Barry; Jodoin, Jeanne N.; Sitaram, Poojitha; Lee, Laura A.; Fathalla, Raja; Al-Rawashdeh, Baeth; Ababneh, Osama; El-Khateeb, Mohammad; Escande-Beillard, Nathalie; Nelson, Stanley F.; Wu, Yixuan; Tong, Liang; Kenney, Linda J.; Roy, Sudipto; Russell, William K.; Amiel, Jeanne; Reversade, Bruno; Wagner, Eric J. 分享 收藏
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