Kirsty McWalter

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Anna Lehman, Samrat Thouta, Grazia M.S. Mancini et al. · The American Journal of Human Genetics · 2017 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders et al. · The American Journal of Human Genetics · 2016 · 117 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

David B. Beck, Ana Petracovici, Chongsheng He et al. · The American Journal of Human Genetics · 2020 · 112 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

Kezhi Yan, Justine Rousseau, Keren Machol et al. · Science Advances · 2020 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

Alban Ziegler, Carrie Koval‐Burt, Denise M. Kay et al. · JAMA · 2024 · 103 citations · Full text

Medicine, Genetics, Pediatrics +17