Gemma Poke

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

Miriam J. Smith, James O’Sullivan, Sanjeev S. Bhaskar et al. · Nature Genetics · 2013 · 249 citations

Rare Diseases, Developmental Biology, Multiple Spinal Meningiomas +7

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Morad Ansari, Gemma Poke, Quentin R. V. Ferry et al. · Journal of Medical Genetics · 2014 · 165 citations · Full text

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 119 citations · Full text

Tricho-rhino-phalangeal Syndrome, Genetics, Genetic Epidemiology +1

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Kathie J. Ngo, Jessica E. Rexach, Hane Lee et al. · Human Mutation · 2019 · 84 citations · Full text

Neurological Disorder, Exome Sequencing, Genetics +21

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients

Ngoc Minh Nguyen, Yassemine Khawajkie, Nawel Mechtouf et al. · Modern Pathology · 2018 · 81 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6