Addie I. Nesbitt

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 201 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

Emma Tham, Anna Lindstrand, Avni Santani et al. · The American Journal of Human Genetics · 2015 · 146 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Cara Skraban, Constance Wells, Preetha Markose et al. · The American Journal of Human Genetics · 2017 · 92 citations

Life Sciences, Neurology, Neuroscience +12

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

Samuel W. Baker, Jill R. Murrell, Addie I. Nesbitt et al. · Journal of Molecular Diagnostics · 2018 · 88 citations · Full text

Medicine, Clinical Sciences, Molecular Genetics +17

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Heather E. Olson, Nolwenn Jean‐Marçais, Edward Yang et al. · The American Journal of Human Genetics · 2018 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16