Not logged inEvidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework
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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SaveShare Save Share Save Share Save Share Save Share Save PTPN4 germline variants result in aberrant neurodevelopment and growthChmielewska, Joanna J.; Burkardt, Deepika; Granadillo, Jorge Luis; Slaugh, Rachel; Morgan, Shamile; Rotenberg, Joshua; Keren, Boris; Mignot, Cyril; Escobar, Luis; Turnpenny, Peter; Zuteck, Melissa; Seaver, Laurie H.; Ploski, Rafal; Dziembowska, Magdalena; Wynshaw-Boris, Anthony; Adegbola, Abidemi Share Save Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?Pennisi, Alessandra; Rotig, Agnes; Roux, Charles-Joris; Levy, Raphael; Henneke, Marco; Gartner, Jutta; Kisa, Pelin Teke; Sarioglu, Fatma Ceren; Yis, Uluc; Konczal, Laura L.; Burkardt, Deepika D.; Wu, Sulin; Gaignard, Pauline; Besmond, Claude; Hubert, Laurence; Rio, Marlene; Barcia, Giulia; Munnich, Arnold; Boddaert, Nathalie; Schiff, Manuel Share Save Share Save 
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