Concepedia

Ebba Alkhunaizi

EA

Statistics

Publications

11

Citations

456

H-Index

10

Active since

2018

Affiliations

University of Toronto(Current)

Hospital for Sick Children

Mount Sinai Hospital

SickKids Foundation

Children's Hospital of Philadelphia

Ebba Alkhunaizi is an author at University of Toronto specializing in genetic disorders, genetics, and molecular genetics.

ORCID

Publications per year

2018–2023

11

Publications

11

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns et al. · Biological Psychiatry · 2018 · 182 citations · Full text

, , +14

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans et al. · The American Journal of Human Genetics · 2021 · 71 citations · Full text

, , +17

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

Joel Hughes, Ebba Alkhunaizi, Paul Kruszka et al. · The American Journal of Human Genetics · 2019 · 51 citations · Full text

, , +16

Warsaw breakage syndrome: Further clinical and genetic delineation

Ebba Alkhunaizi, Ranad Shaheen, Sanjay Kumar Bharti et al. · American Journal of Medical Genetics Part A · 2018 · 32 citations · Full text

, , +17

Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Laura C. Bott, Mitra Forouhan, Maria Lieto et al. · Brain Communications · 2021 · 32 citations · Full text

, , +1

1–5 of 11