Katherine Neas

Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds

Jonathan R. Skinner, Jackie Crawford, Warren Smith et al. · Heart Rhythm · 2010 · 164 citations

Death Investigation, Forensic Medicine, Year Olds +3

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

Katrina Tatton‐Brown, Anna Zachariou, Chey Loveday et al. · Wellcome Open Research · 2018 · 106 citations · Full text

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

<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity

Ilse Meerschaut, Daniel Rochefort, Nicole Revençu et al. · Journal of Medical Genetics · 2017 · 72 citations · Full text

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn et al. · Neuromuscular Disorders · 2016 · 63 citations

Mendelian Disorder, Autoimmune Disease, Disease Mechanism +9