Concepedia

Ebba Alkhunaizi

EA

8

Publications

227

Citations

8

H-Index

2018

Active since

Affiliations

Mount Sinai Hospital(Current)

University of Toronto

Hospital for Sick Children

SickKids Foundation

National Institutes of Health

Ebba Alkhunaizi is an author at Mount Sinai Hospital specializing in genetics, molecular genetics, and medicine.

ORCID

Top concepts

Publications per year

2018–2023

8

Publications

8

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 · 67 citations · Full text

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 · 46 citations · Full text

, , +10

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 · 29 citations · Full text

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 · 26 citations · Full text

Homozygous/compound heterozygote <i>RYR1</i> gene variants: Expanding the clinical spectrum

Ebba Alkhunaizi, Shirley Shuster, Patrick Shannon et al. · American Journal of Medical Genetics Part A · 2019 · 21 citations

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