Associated Papers
Brain abscesses, neutropenia, and B-ALL: Multiple testing modalities required to confirm PDCD10 and ETV6 dual diagnoses.
Kumar RD et al.
Cancer Genetics, 2024
Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset.
Domogala DD et al.
Human Genomics, 2021
First case of neutropenia and thrombocytopenia in the setting of cerebral cavernous malformation 3.
Cohen CT et al.
International Journal of Hematology, 2019
Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.
Spiegler S et al.
Molecular Syndromology, 2018
Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.
Rath M et al.
Molecular Genetics & Genomic Medicine, 2017
Cerebral cavernous malformations arise from endothelial gain of MEKK3-KLF2/4 signalling.
Zhou Z et al.
Nature, 2016
Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations.
Shenkar R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.
Mondéjar R et al.
Plos One, 2014
CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas.
Riant F et al.
Molecular Syndromology, 2013
Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.
Akers AL et al.
Human Molecular Genetics, 2009
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