Publication & Citation Trends
Publications
0 total
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium OA
Cited by 3
Semantic Scholar
Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families
Cited by 55
Semantic Scholar
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures OA
Cited by 38
Semantic Scholar
The phenotype of floating-harbor syndrome
Cited by 7
Semantic Scholar
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1 OA
Cited by 19
Semantic Scholar
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy
Cited by 51
Semantic Scholar
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge OA
Cited by 308
Semantic Scholar
2012 Landes Bioscience. Do not distribute. Guidelines for the use and interpretation of assays for monitoring autophagy
Cited by 1
Semantic Scholar
Research Topics
Autophagy in Disease and Therapy
(1)
Toxoplasma gondii Research Studies
(1)
Plant responses to water stress
(1)