Author

Karli Blocker

Observed name: Blocker, Karli

Institutions: Stanford Health Care, Stanford University

Observed institutions: Stanford Health Care, Stanford University

OpenAlex ID: A5092338206

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

2023 · Franziska Langhammer, Reza Maroofian, et al. · Genetics in Medicine · 18

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

2024 · Sureni V. Mullegama, Kaitlyn A. Kiernan, et al. · The American Journal of Human Genetics · 7

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

2024 · Sureni V. Mullegama, Kaitlyn A. Kiernan, et al. · The American Journal of Human Genetics

Works count: 4

Citation count: 25

H-index: 2

I10-index: 1