Benjamin J. Halliday

Germline mutations and somatic inactivation of TRIM28 in Wilms tumour

Benjamin J. Halliday, Ryuji Fukuzawa, David Markie et al. · PLoS Genetics · 2018 · 61 citations · Full text

Childhood Tumour, Developmental Biology, Somatic Variant +15

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Maya Chopra, Meriel McEntagart, Jill Clayton‐Smith et al. · The American Journal of Human Genetics · 2021 · 36 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

Expanding the molecular and clinical phenotypes of FUT8‐CDG

Bobby G. Ng, Hassan Dastsooz, Mohammad Silawi et al. · Journal of Inherited Metabolic Disease · 2020 · 31 citations · Full text

Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype

Sean G. W. Driver, Meremaihi R. Jackson, Konrad Klaus Richter et al. · European Journal of Human Genetics · 2019 · 28 citations · Full text

Mendelian Disorder, Biallelic Variants, Genetic Disorder +5

Biallelic loss‐of‐function variants in <i>TBC1D2B</i> cause a neurodevelopmental disorder with seizures and gingival overgrowth

Frederike L. Harms, Padmini Parthasarathy, Dennis Zorndt et al. · Human Mutation · 2020 · 16 citations · Full text

Gingival Overgrowth, Brain Development, Genetics +23