Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM15_ESM.xlsx › Sheet1
[Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness].
Arroyo-Carrera I et al.
Revista De Neurologia, 2023
Role of the DDX11 DNA Helicase in Warsaw Breakage Syndrome Etiology.
Santos D et al.
International Journal of Molecular Sciences, 2021
Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.
van Schie JJM et al.
Nature Communications, 2020
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
Spotlight on Warsaw Breakage Syndrome.
Pisani FM
The Application of Clinical Genetics, 2019
Warsaw breakage syndrome: Further clinical and genetic delineation.
Alkhunaizi E et al.
American Journal of Medical Genetics. Part A, 2018
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