Denise Williams

Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole

Bruce E. Hayward, Michel De Vos, Nargese Talati et al. · Human Mutation · 2009 · 149 citations

Life Sciences, Genetics, Molecular Genetics +17

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 121 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

E Quinlan-Jones, Jenny Lord, Denise Williams et al. · Genetics in Medicine · 2018 · 72 citations · Full text

Medicine, Genetics, Obstetrics +17

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

Camille Sayou, Pauline Le Tanno, Émilie Tisserant et al. · Genetics in Medicine · 2020 · 53 citations

Life Sciences, Genetics, Molecular Genetics +12

Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

Andrew E. Fry, Christopher Marra, Anna V. Derrick et al. · The American Journal of Human Genetics · 2020 · 47 citations · Full text

Medicine, Genetics, Molecular Genetics +17