Natalie Hauser

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

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

Ashleigh A. Richards, Lane J. Jaeckle Santos, Haley A. Nichols et al. · Pediatric Research · 2008 · 115 citations · Full text

Medicine, Cardiology, Pediatrics +14

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Diana Mitter, Milka Pringsheim, Marc Kaulisch et al. · Genetics in Medicine · 2017 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

Jennifer L. Sloan, Jennifer J. Johnston, Irini Manoli et al. · Nature Genetics · 2011 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

<scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

Tariq Zaman, Katherine L. Helbig, Jérôme Clatot et al. · Annals of Neurology · 2020 · 97 citations · Full text

Life Sciences, Genetics, Neuroscience +17