author-photo

Josef Ekstein

23

Papers

1019

Citations

Citation Trend

Filter By

Papers (20) Sort By

Journal Conference Others

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.

2021 Journal of Medical Genetics
Show All
- Source
- Cite
- Save
Citations (0)
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.

2021 European Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (2)
Further delineation of the clinical and pathologic features of HIKESHI-related hypomyelinating leukodystrophy

2021 Pediatric Neurology
Show All
- Source
- Cite
- Save
Citations (0)
Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss.

2021 Frontiers in Genetics
Show All
- Source
- Cite
- Save
Citations (0)
A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews

2019 Human genome variation
Show All
- Source
- Cite
- Save
Citations (2)
Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes

2018 Ophthalmic Genetics
Show All
- Source
- Cite
- Save
Citations (1)
Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

2014 American Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (117)
High-throughput carrier screening using TaqMan allelic discrimination.

2013 PLOS ONE
Show All
- Source
- Cite
- Save
Citations (17)
Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.

2012 Human Mutation
Show All
- Source
- Cite
- Save
Citations (26)
ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia

2011 Genetics in Medicine
Show All
- Source
- Cite
- Save
Citations (18)