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Nature Communications|November 4, 2017
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndromeChong Li, Jennifer M Brazill, Sha Liu, et al.
Nature Communications|January 20, 2018
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndromeChong Li, Jennifer M Brazill, Sha Liu, et al.
European Journal of Human Genetics : EJHG|February 28, 2013
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutationCristina Dias, Allison McDonald, Murat Sincan, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
MED23-associated intellectual disability in a non-consanguineous familyAditi Trehan, Jacqueline M Brady, Valerie Maduro, et al.
Neurology|June 8, 2012
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosisTyler Mark Pierson, David A Adams, Thomas Markello, et al.
Orphanet Journal of Rare Diseases|April 19, 2015
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndromeJessica S Albert, Nisan Bhattacharyya, Lynne A Wolfe, et al.
American Journal of Medical Genetics. Part A|August 14, 2012
SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivoAlireza Baradaran-Heravi, Anja Raams, Joanna Lubieniecka, et al.
Human Mutation|August 8, 2015
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseasesOrion J Buske, Marta Girdea, Sergiu Dumitriu, et al.
BMC Genomics|May 26, 2017
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual DisabilityFarah R Zahir, Jill C Mwenifumbo, Hye-Jung E Chun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2022
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practiceHui-Lin Chin, Nour Gazzaz, Stephanie Huynh, et al.
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