I Abramowiçz

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

Ghayda Mirzaa, Benjamin Vitre, Gillian Carpenter et al. · Human Genetics · 2014 · 94 citations · Full text

Life Sciences, Cell Biology, Genetics +14

Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf–Hirschhorn syndrome

Claudia Kerzendorfer, Femke Hannes, Rita Colnaghi et al. · Human Molecular Genetics · 2012 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism

Hilde Van Esch, Rita Colnaghi, Kathleen Freson et al. · The American Journal of Human Genetics · 2019 · 44 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis

Hani Bagheri, Chansonette Badduke, Ying Qiao et al. · JCI Insight · 2016 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: Two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis

Claudia Kerzendorfer, Rita Colnaghi, I Abramowiçz et al. · DNA repair · 2013 · 26 citations · Full text

Life Sciences, Developmental Biology, Genetics +13