Claire S. Leblond

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Elizabeth T. Cirulli, Brittany N. Lasseigne, Slavé Petrovski et al. · Science · 2015 · 972 citations · Full text

Engineering, Exome Sequencing, Genetics +18

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Kevin P. Kenna, Perry T.C. van Doormaal, Annelot M. Dekker et al. · Nature Genetics · 2016 · 278 citations · Full text

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Neurological Disorder +4

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Kelly L. Williams, Simon Topp, Shu Yang et al. · Nature Communications · 2016 · 205 citations · Full text

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in <i>C9orf72</i> reveals marked differences in results among 14 laboratories

Chizuru Akimoto, Alexander E. Volk, Marka van Blitterswijk et al. · Journal of Medical Genetics · 2014 · 141 citations · Full text

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

Ziv Gan‐Or, Anat Mirelman, Ronald B. Postuma et al. · Annals of Clinical and Translational Neurology · 2015 · 140 citations · Full text

Sleep Disorders, Gba Mutations, Genetics +18