Sara Cathey

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

Sara Cathey, J. G. Leroy, Tim Wood et al. · Journal of Medical Genetics · 2009 · 153 citations

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Davor Lessel, Christina Gehbauer, Nuria C. Bramswig et al. · Brain · 2018 · 132 citations · Full text

Bcl11b Mutations, Brain Development, Lymphocyte Development +21

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 · 123 citations · Full text

Redefining the Etiologic Landscape of Cerebellar Malformations

Kimberly A. Aldinger, Andrew E. Timms, Zachary Thomson et al. · The American Journal of Human Genetics · 2019 · 95 citations · Full text

Neurological Disorder, Neuroanatomy, Medicine +6

Molecular order in mucolipidosis II and III nomenclature

Sara Cathey, Mariko Kudo, Stephan Tiede et al. · American Journal of Medical Genetics Part A · 2008 · 71 citations

Molecular Order, Biochemical Taxonomy, Pathogenesis +2