Matt Velinder

Effective variant filtering and expected candidate variant yield in studies of rare human disease

Brent S. Pedersen, Joe Brown, Harriet Dashnow et al. · npj Genomic Medicine · 2021 · 121 citations · Full text

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Oguz Kanca, Jonathan C. Andrews, Pei-Tseng Lee et al. · The American Journal of Human Genetics · 2019 · 55 citations · Full text

Wdr37 Are Associated, Mendelian Disorder, Genetic Disorder +9

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse, Kirsty McWalter, Heleen te Brinke et al. · Genetics in Medicine · 2020 · 49 citations · Full text

2024 Update of the RECOVER-Adult Long COVID Research Index

Linda N. Geng, Kristine M. Erlandson, Mady Hornig et al. · JAMA · 2024 · 48 citations · Full text

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata et al. · Genetics in Medicine · 2021 · 47 citations · Full text

Neurobiology Of Disease, Corticobasal Degeneration, Neurological Disorder +9