Associated Papers
Germline DNA Repair and Immune-metabolic Alterations Suggest a Potentially Distinct Form of Early-onset Prostate Cancer in Men of African Descent.
Loger JS et al.
European Urology Oncology, 2025
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M.
Koo B et al.
Neuromuscular Disorders : Nmd, 2016
Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama.
Salameh J et al.
Muscle & Nerve, 2013
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene.
Tonin P et al.
Neuromuscular Disorders : Nmd, 2009
Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onset.
Joshi PR et al.
Acta Neuropathologica, 2009
Distribution and effects of nonsense polymorphisms in human genes.
Yamaguchi-Kabata Y et al.
Plos One, 2008
Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene.
Hadjigeorgiou GM et al.
Neuromuscular Disorders : Nmd, 1999
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