Meron Azage

Mutations in ZBTB20 cause Primrose syndrome

Viviana Cordeddu, B. Redeker, Emilia Stellacci et al. · Nature Genetics · 2014 · 96 citations

Genetic Disorder, Genetics, Inherited Metabolic Disease +2

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

Volkan Okur, Megan T. Cho, Lindsay B. Henderson et al. · Human Genetics · 2016 · 80 citations

Neurodevelopmental Disorders, Developmental Anomaly, Developmental Biology +11

Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disability

Genay Pilarowski, Hilary J. Vernon, Carolyn Applegate et al. · Journal of Medical Genetics · 2017 · 60 citations · Full text

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

Diana Le Duc, Cecilia Giulivi, Susan M. Hiatt et al. · Brain · 2019 · 50 citations · Full text

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities

Anke Van Dijck, Ilse M. van der Werf, Edwin Reyniers et al. · European Journal of Medical Genetics · 2015 · 48 citations

Triplication Show Macrocephaly, Chromatin, Chromosome 1Q21.1 +10