Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
36556183 (PubMed )
Supplement: jpm-12-01962-s001.zip › jpm-1983119-supplementary.pdf
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines.
Alston CL et al.
The Journal of Pathology, 2021
A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder.
Daniels EG et al.
Cold Spring Harbor Molecular Case Studies, 2019
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Vivante A et al.
Pediatric Nephrology (berlin, Germany), 2017
Polyglucosan storage myopathies.
Hedberg-Oldfors C et al.
Molecular Aspects of Medicine, 2015
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
McLaughlin HM et al.
Bmc Medical Genetics, 2014
First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.
Vives-Corrons JL et al.
Frontiers in Physiology, 2013
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