Keren Machol

De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Karin Weiss, Paulien A. Terhal, Lior Cohen et al. · The American Journal of Human Genetics · 2016 · 154 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The Proto-Oncogene ERG in Megakaryoblastic Leukemias

Liat Rainis, Tsutomu Toki, John E. Pimanda et al. · Cancer Research · 2005 · 125 citations

Medicine, Genetics, Hematology +16

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

Kezhi Yan, Justine Rousseau, Keren Machol et al. · Science Advances · 2020 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Keren Machol, Justine Rousseau, Sophie Ehresmann et al. · The American Journal of Human Genetics · 2018 · 91 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini et al. · The American Journal of Human Genetics · 2023 · 43 citations · Full text

Life Sciences, Neurobiology, Neuroscience +16