未登录Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework基于ClinGen注释框架的证据支持性骨骼疾病相关基因分类
Webb, Ryan F.; McCurry, Hannah; Girod, Amanda; Hughes, Madeline; Wilcox, Emma; Patel, Mayher; Broeren, Eleanor C.; Tshering, Kezang C.; Distefano, Marina; Botto, Lorenzo D.; Burrage, Lindsay C.; Cormier-Daire, Valerie; Dong, Juan; Ehmke, Nadja; Krakow, Deborah; Moosa, Shahida; Mortier, Geert; Nagamani, Sandesh; Pena, Loren; Sanchez-Lara, Pedro A.; Superti-Furga, Andrea; Unger, Sheila; Velasco, Danita; Warman, Matthew L.; Brown, Kerry; D'Cunha Burkardt, Deepika; Ferreira, Carlos R. .png)
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收藏De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorderQuinodoz, Mathieu; Rutz, Sonja; Peter, Virginie; Garavelli, Livia; Innes, A. 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C.; Battisti, Gladys; Parmentier, Benoit; Stevens, Servi J. C. 分享 收藏 New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome (Jun 2023,10.1007/s10875-023-01517-4)Arlabosse, Tiphaine; Materna, Marie; Riccio, Orbicia; Schnider, Caroline; Angelini, Federica; Perreau, Matthieu; Rochat, Isabelle; Superti-Furga, Andrea; Campos-Xavier, Belinda; Heritier, Sebastien; Pereira, Anais; Deswarte, Caroline; Levy, Romain; Distefano, Marco; Bustamante, Jacinta; Roelens, Marie; Borie, Raphael; Le Brun, Mathilde; Crestani, Bruno; Casanova, Jean-Laurent; Puel, Anne; Hofer, Michael; Fieschi, Claire; Theodoropoulou, Katerina; Beziat, Vivien; Candotti, Fabio 分享 收藏 New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE SyndromeArlabosse, Tiphaine; Materna, Marie; Riccio, Orbicia; Schnider, Caroline; Angelini, Federica; Perreau, Matthieu; Rochat, Isabelle; Superti-Furga, Andrea; Campos-Xavier, Belinda; Heritier, Sebastien; Pereira, Anais; Deswarte, Caroline; 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Au, Ping Yee Billie; Shashi, Vandana 分享 收藏 Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophiesRehman, Atta Ur; Sepahi, Neda; Bedoni, Nicola; Ravesh, Zeinab; Salmaninejad, Arash; Cancellieri, Francesca; Peter, Virginie G.; Quinodoz, Mathieu; Mojarrad, Majid; Pasdar, Alireza; Asad, Ali Ghanbari; Ghalamkari, Saman; Piran, Mehran; Piran, Mehrdad; Superti-Furga, Andrea; Rivolta, Carlo 分享 收藏 O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrumVelmans, Clara; O'Donnell-Luria, Anne H.; Argilli, Emanuela; Tran Mau-them, Frederic; Vitobello, Antonio; Chan, Marcus C. 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