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Human Genetics|September 27, 2023
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidenceKarina C Silveira, Inara Chacon Fonseca, Connor Oborn, et al.Nature Genetics|March 8, 2011
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone lossMichael A Simpson, Melita D Irving, Esra Asilmaz, et al.American Journal of Human Genetics|June 2, 2015
Recessive osteogenesis imperfecta caused by missense mutations in SPARCRoberto Mendoza-Londono, Somayyeh Fahiminiya, Jacek Majewski, et al.Pediatric Research|September 27, 2005
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndromeDeborah A McDermott, Michael C Bressan, Jie He, et al.Annals of Neurology|September 22, 2007
Molecular consequences of dominant Bethlem myopathy collagen VI mutationsNaomi L Baker, Matthias Mörgelin, Rishika A Pace, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 30, 2022
Reduction of New Heterotopic Ossification (HO) in the Open-Label, Phase 3 MOVE Trial of Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP)Robert J Pignolo, Edward C Hsiao, Mona Al Mukaddam, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 7, 2019
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibilityNeeti Ghali, Duncan Baker, Angela F Brady, et al.Nature Genetics|March 3, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisDeborah Krakow, Stephen P Robertson, Lily M King, et al.JBI Evidence Synthesis|October 21, 2024
Barriers and facilitators to designing, maintaining, and utilizing rare disease patient registries: a scoping review protocolCatherine Stratton, Andrew Taylor, Menelaos Konstantinidis, et al.Nature Communications|September 17, 2020
Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genesOliver A Kent, Manipa Saha, Etienne Coyaud, et al.Pageof 13