Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
38544359 (PubMed )
Supplement: ACN3-11-1250-s001.xlsx › Supplementary_Table_1
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
36455558 (PubMed )
Supplement: NIHMS1852590-supplement-MMC2.xlsx › 6
Comparison of pan-ethnic and ethnic-based carrier screening panels for individuals of Ashkenazi Jewish descent.
Rosenblum LS et al.
Journal of Genetic Counseling, 2020
Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies.
Daum H et al.
Prenatal Diagnosis, 2018
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1
Very Early In-Utero Diagnosis of Walker-Warburg Phenotype: The Cutting Edge of Technology.
Achiron R et al.
Ultrasound International Open, 2016
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › Known_small_variants
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.
Ismail S et al.
Gene, 2014
Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.
Fiorillo C et al.
Neuromuscular Disorders : Nmd, 2013
Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease.
Treff NR et al.
Fertility and Sterility, 2013
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
Yis U et al.
Neuromuscular Disorders : Nmd, 2011
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.
Chang W et al.
Prenatal Diagnosis, 2009
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Manzini MC et al.
Human Mutation, 2008
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.
Godfrey C et al.
Annals of Neurology, 2006
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