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
Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.
Pauta M et al.
Journal of Clinical Medicine, 2021
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.
Greenbaum L et al.
Frontiers in Genetics, 2019
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.
Kiiski K et al.
European Journal of Human Genetics : Ejhg, 2016
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
Yuen M et al.
The Journal of Clinical Investigation, 2015
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
Yuen M et al.
The Journal of Clinical Investigation, 2014
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