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_MOESM23_ESM.xlsx › Sheet1
[Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness].
Arroyo-Carrera I et al.
Revista De Neurologia, 2023
Residual risk for additional recessive diseases in consanguineous couples.
AlAbdi L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.
van Schie JJM et al.
Nature Communications, 2020
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?
Bottega R et al.
Molecular Genetics & Genomic Medicine, 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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