Amber Begtrup

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

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience

C. Alexander Valencia, Ammar Husami, Jennifer Holle et al. · Frontiers in Pediatrics · 2015 · 181 citations · Full text

Life Sciences, Genetics, Pediatrics +17

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

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Carol-Anne Martin, Kata Sarlós, Clare V. Logan et al. · The American Journal of Human Genetics · 2018 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

Peter Huppke, Joseph A. Church, Rhonda E. Schnur et al. · Nature Communications · 2017 · 97 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16