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Human Molecular Genetics|March 2, 2012
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expressionAlireza Baradaran-Heravi, Kyoung Sang Cho, Bas Tolhuis, et al.
European Journal of Pediatrics|December 17, 2009
Schimke immunoosseous dysplasia: defining skeletal featuresKshamta B Hunter, Thomas Lücke, Jürgen Spranger, et al.
Orphanet Journal of Rare Diseases|November 7, 2016
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?Marie Morimoto, Clara Myung, Kimberly Beirnes, et al.
Frontiers in Medicine|January 30, 2023
The practice of genomic medicine: A delineation of the process and its governing principlesJulia Handra, Adrienne Elbert, Nour Gazzaz, et al.
Molecular Genetics and Metabolism|May 28, 2014
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivityDavid R Adams, Hongjie Yuan, Todd Holyoak, et al.
American Journal of Human Genetics|May 14, 2026
A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicineMengqi Wang, Shaimaa Helal, Arteen Torabi-Marashi, et al.
Molecular Genetics and Metabolism|May 7, 2015
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchorsChristina Lam, Gretchen A Golas, Mariska Davids, et al.
Nature Genetics|January 19, 2002
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasiaCornelius F Boerkoel, Hiroshi Takashima, Joy John, et al.
Clinical Immunology (Orlando, Fla.)|October 27, 2015
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD)Mrinmoy Sanyal, Marie Morimoto, Alireza Baradaran-Heravi, et al.
Epilepsia|March 21, 2025
MBOAT7 encephalopathy: Characterizing the neurology and epileptologySebastian Ortiz De la Rosa, Valentina Rizzo, Robin-Tobias Jauss, et al.
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