Associated Papers
Evidence of an unprecedented cytoplasmic function of DDX11, the Warsaw breakage syndrome DNA helicase, in regulating autophagy.
Bonavita R et al.
Autophagy, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.
Einhorn Y et al.
Human Genomics, 2023
[Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness].
Arroyo-Carrera I et al.
Revista De Neurologia, 2023
Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations.
Toraman B et al.
The Journal of Gene Medicine, 2021
Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.
van Schie JJM et al.
Nature Communications, 2020
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
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.
Rabin R et al.
American Journal of Medical Genetics. Part A, 2019
Spotlight on Warsaw Breakage Syndrome.
Pisani FM
The Application of Clinical Genetics, 2019
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