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Human Molecular Genetics|August 27, 2015
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disabilityKristin D Kernohan, Martine Tétreault, Urszula Liwak-Muir, et al.
Journal of Lipid Research|November 5, 2013
A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newbornsAndrea E DeBarber, Jenny Luo, Michal Star-Weinstock, et al.
American Journal of Medical Genetics|February 22, 2002
Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiencyReza Yaghmai, Amir H Kashani, Michael T Geraghty, et al.
American Journal of Medical Genetics|June 22, 2000
Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12)C B Cargile, I McIntosh, M V Clough, et al.
American Journal of Medical Genetics|July 31, 2001
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndromeM Li, C Shuman, Y L Fei, et al.
Cancer Genetics and Cytogenetics|December 1, 1993
Identification of a yeast artificial chromosome that spans the human papillary renal cell carcinoma-associated t(X;1) breakpoint in Xp11.2R F Suijkerbuijk, A M Meloni, R J Sinke, et al.
American Journal of Medical Genetics|December 18, 1998
Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated familiesB K Goodman, L G Shaffer, J Rutberg, et al.
Molecular Genetics and Metabolism|August 29, 2007
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type IIM E McCready, N L Carson, P Chakraborty, et al.
Human Mutation|June 23, 2019
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the diseaseCarla Martins, Paula Frassinetti V de Medeiros, Sandra Leistner-Segal, et al.
Orphanet Journal of Rare Diseases|July 10, 2013
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduriaJulien L Marcadier, Amanda M Smith, Daniela Pohl, et al.
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