Bronwyn Kerr

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Johannes G. Dauwerse, Jill Dixon, Saskia Seland et al. · Nature Genetics · 2010 · 364 citations

Mendelian Disorder, Treacher Collins, Rna Polymerases +9

Fetal valproate syndrome and autism: additional evidence of an association

Gail Williams, John King, Michael L. Cunningham et al. · Developmental Medicine & Child Neurology · 2001 · 363 citations

Genetic Epidemiology, Fetal Medicine, Education +16

An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

Meena Upadhyaya, Susan Huson, D. M. Davies et al. · The American Journal of Human Genetics · 2006 · 360 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetic Epidemiology +8

Fetal valproate syndrome and autism: additional evidence of an association

Gail Williams, John King, Michael L. Cunningham et al. · Developmental Medicine & Child Neurology · 2001 · 282 citations · Full text

Genetic Epidemiology, Fetal Medicine, Education +16

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faúndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 268 citations · Full text

Histone Modifications, Chromatin, Developmental Biology +11