Beatriz Menendez

Senior Genetic Counselor · University of Illinois College of Medicine at Chicago

Credentials: ·

History

University of Illinois College of Medicine at Chicago
Present

Research

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy
Brain · 2023 · 28 citations
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders
Systematic review or meta-analysis · Brain · 2024 · 10 citations
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
The American Journal of Human Genetics · 2025 · 6 citations

AM
Anthony Moore
2 papers
CS
Carly Siskind
2 papers
Craig Blackstone
2 papers
Elias Traboulsi
2 papers
ES
Elliott Sherr
2 papers
Erin Falsey
2 papers
GL
Gholson Lyon
2 papers
Jacque Duncan
2 papers
Jessica Tenney
2 papers
Lakshmi Mehta
2 papers
LH
Laryssa Huryn
2 papers
Lev Prasov
2 papers