Newell Belnap

Delineating the <i>GRIN1</i> phenotypic spectrum

Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig et al. · Neurology · 2016 · 202 citations · Full text

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Chris Balak, Marianne Bénard, Élise Schaefer et al. · The American Journal of Human Genetics · 2019 · 84 citations · Full text

Rna Dysregulation, Allelic Variant, Genetic Disorder +8

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck et al. · Nature Communications · 2019 · 50 citations · Full text

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

Paolo Zanoni, Katharina Steindl, Deepanwita Sengupta et al. · Genetics in Medicine · 2021 · 43 citations · Full text

Improved methods for RNAseq-based alternative splicing analysis

Rebecca F. Halperin, Apurva M. Hegde, Jessica D. Lang et al. · Scientific Reports · 2021 · 42 citations · Full text