Eloise J. Prijoles

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Eric G. Bend, Erfan Aref‐Eshghi, David B. Everman et al. · Clinical Epigenetics · 2019 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

David B. Beck, Ana Petracovici, Chongsheng He et al. · The American Journal of Human Genetics · 2020 · 112 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Noonan syndrome in diverse populations

Paul Kruszka, Antonio R. Porras, Yonit A. Addissie et al. · American Journal of Medical Genetics Part A · 2017 · 92 citations · Full text

Life Sciences, Genetics, Pediatrics +13

Cohesin complex-associated holoprosencephaly

Paul Kruszka, Seth Berger, Valentina Casà et al. · Brain · 2019 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Cornelia de Lange syndrome in diverse populations

Leah Dowsett, Antonio R. Porras, Paul Kruszka et al. · American Journal of Medical Genetics Part A · 2019 · 53 citations · Full text

Medicine, Molecular Genetics, Dermatopathology +9