Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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Life Sciences, Genetics, Molecular Genetics +17

<i>In silico</i> prediction of splice-altering single nucleotide variants in the human genome

Xueqiu Jian, Eric Boerwinkle, Xiaoming Liu · Nucleic Acids Research · 2014 · 570 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Hepatocellular carcinoma in glycogen storage disease type Ia: A case series

Luis M. Franco, Venkat Krishnamurthy, Deeksha Bali et al. · Journal of Inherited Metabolic Disease · 2004 · 215 citations

Medicine, Oncology, Pathology +16

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Priya S. Kishnani, Jennifer Goldstein, Stephanie Austin et al. · Genetics in Medicine · 2019 · 138 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Age- and sex-specific pediatric reference intervals for biochemistry analytes as measured with the Ektachem-700 analyzer.

Gillian Lockitch, Anne C. Halstead, Susan Albersheim et al. · Clinical Chemistry · 1988 · 130 citations

Medicine, Biochemistry, Pediatrics +9