Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett, +30

The American Journal of Human Genetics

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean, +30

The American Journal of Human Genetics

Neurodegenerative DiseasesGenetic DisorderGeneticsDegenerative DiseaseDegenerative Pathology +6

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Davor Lessel, Bruno Vaz, Swagata Halder, +33

Nature Genetics

HepatologyMedicineGeneticsPathologyCancer Genomics +7

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo, Matthew Jensen, Andrew Polyak, +53

Genetics in Medicine

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Ryan J. Taft, Adeline Vanderver, Richard J. Leventer, +21

The American Journal of Human Genetics

NeuroregenerationSpinal Cord InjuryAmyotrophic Lateral SclerosisNeurological DisorderDars Cause Hypomyelination +10

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

Brian T. Wilson, Zornitza Stark, Ruth E. Sutton, +17

Genetics in Medicine

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

Haloom Rafehi, Justin Read, David J. Szmulewicz, +28

The American Journal of Human Genetics

PathologyNeurogeneticsNeurologyMedicineMolecular Medicine

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator <i>NPRL3</i>

Joe C. Sim, Thomas Scerri, Miriam Fanjul‐Fernández, +17

Annals of Neurology

Familial cortical dysplasia type <scp>IIA</scp> caused by a germline mutation in <i><scp>DEPDC</scp>5</i>

Thomas Scerri, Jessica R. Riseley, Greta Gillies, +16

Annals of Clinical and Translational Neurology

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

Jijun Wan, Janos Steffen, Michael Yourshaw, +14

Brain