Rachel Straussberg

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

Xianhua Piao, R. Sean Hill, Adria Bodell et al. · Science · 2004 · 522 citations

Life Sciences, Developmental Biology, Neuroscience +17

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens et al. · Nature Genetics · 2014 · 315 citations · Full text

Medicine, Genetics, Molecular Genetics +12

A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

Alexander G. Bassuk, Robyn H. Wallace, Aimee C. Buhr et al. · The American Journal of Human Genetics · 2008 · 241 citations · Full text

Life Sciences, Genetics, Neurology +16

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 190 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17