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Ebba Alkhunaizi

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Assistant ProfessorDepartment of PaediatricsUniversity of Toronto

Ebba Alkhunaizi

Assistant Professor

Department of Paediatrics

Temerty Faculty of Medicine

University of Toronto

Toronto, Ontario, Canada

Supervision signals

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10 publications in the last five years, latest in 2026.

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Publications

126

Citations

Collaborators

Publications by year

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Research

Read how they describe their research on their University of Toronto profile.

Latest papers

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.
The Journal of clinical investigation · 2026
KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.
Genetics in medicine : official journal of the American College of Medical Genetics · 2026
Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures
American Journal of Human Genetics · 2026

All 18 publications

18 publications.

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.

Johannesen KM, Aung KP, Liao VW, Absalom N, Chua HC, Gan XN, Mao M, McKenzie CE, Lee HM, Ortiz S, Spillmann RC, Shashi V, Radtke RA, Mirzaa GM, Weisner PA, Flores Daboub J, Hagedorn C, Bayrak-Toydemir P, DeMille D, Zhao J, Bajaj N, Capri Y, Keren B, Schmidts M, van de Laar IM, van Slegtenhorst MA, Ploski R, Bogotko M, Bourque DK, Alkhunaizi E, Chad L, Quercia N, Elloumi H, Wentzensen IM, Kruer MC, Bisarad P, Galaz-Montoya CI, Rusu V, Braun D, Angione K, Win JC, Espinosa-Jovel C, Zacher P, Platzer K, Berkovic SF, Scheffer IE, Chebib M, Rubboli G, Møller RS, Reid CA, Ahring PK

The Journal of clinical investigation20262 citationsOpen Access

DOI: 10.1172/jci189830 PMID: 41289009

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

Awamleh Z, Chen A, Choufani S, Rots D, Ko JM, Armour CM, Nowaczyk MJM, Hurst ACE, Gibson WT, Misceo D, Frengen E, Strømme P, Soliani L, McNiven V, Alkhunaizi E, Invernizzi F, Fernandes S, Sousa S, Amoros I, Scherer SW, Kwint M, Bienvenu T, Garavaglia BM, Ortigoza-Escobar JD, Weksberg R

Genetics in medicine : official journal of the American College of Medical Genetics2026

DOI: 10.1016/j.gim.2026.102636 PMID: 42318777

Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures

Reko N, Torabi-Marashi A, Kallurkar P, Goodman SJ, Awamleh Z, Turinsky AL, Grafodatskaya D, Russell BE, Chong K, Ko JM

American Journal of Human Genetics2026Open Access

DOI: 10.1016/j.ajhg.2026.06.017

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

Ariane Kröll‐Hermi, Corinne Stoetzel, Christelle Etard, Levon Halabelian, Élise Schaefer, Sophie Scheidecker, Kimia Kahrizi, Jamali Payman, Véronique Geoffroy, Megana K. Prasad, Cathy Obringer, Laurie Ruch, Amandine Girard, Hong Zeng, Fengling Li, Damien Plassard, Céline Keime, Francesca Mattioli, Claire Feger, Amélie Piton, Atsushi Fujita, Naomichi Matsumoto, Matheus Augusto Araújo Castro, Chong Ae Kim, Lyse Ruaud, Jonathan Lévy, Blandine Dozières, Anne‐Claude Tabet, Ingrid M. Wentzensen, Teresa Santiago‐Sim, et al. (89 authors)

The American Journal of Human Genetics20251 citationsOpen Access

DOI: 10.1016/j.ajhg.2025.10.014 PMID: 41260215

45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.

Alkhunaizi E, Albrecht JP, Aarabi M, Witchel SF, Wherrett D, Babul-Hirji R, Dupuis A, Chiniara L, Chater-Diehl E, Shago M, Shuman C, Rajkovic A, Yatsenko SA, Chitayat D

American journal of medical genetics. Part A202414 citationsFirst author

DOI: 10.1002/ajmg.a.63451 PMID: 37882230

Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.

Alkhunaizi E, Martin N, Jelin AC, Rosner M, Bailey DJ, Steiner LA, Lakhani S, Ji W, Katzman PJ, Forster KR, Jarinova O, Shannon P, Chitayat D, Care4Rare Canada Consortium

American journal of medical genetics. Part A202310 citationsFirst authorOpen Access

DOI: 10.1002/ajmg.a.63071 PMID: 36495114

AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disorders.

Lewis SA, Bakhtiari S, Forstrom J, Bayat A, Bilan F, Le Guyader G, Alkhunaizi E, Vernon H, Padilla-Lopez SR, Kruer MC

Disease models & mechanisms2023

DOI: 10.1242/dmm.049838 PMID: 37470098

Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.

Thomas-Wilson A, Schacht JP, Chitayat D, Blaser S, Santos FJR, Glaser K, Caffo A, Wentzensen IM, Henderson LB, Zhang F, Zhu Y, Di Corleto E, da Silva Costa F, Vink R, Alkhunaizi E, Russell L, Buckley MF, Roscioli T, Pereira EM, Ganapathi M

American journal of medical genetics. Part A2023

DOI: 10.1002/ajmg.a.63203 PMID: 37031378

AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder.

Lewis SA, Bakhtiari S, Forstrom J, Bayat A, Bilan F, Le Guyader G, Alkhunaizi E, Vernon H, Padilla-Lopez SR, Kruer MC

bioRxiv : the preprint server for biology2023

DOI: 10.1101/2023.01.31.526497 PMID: 36778426

Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.

Borgia P, Baldassari S, Pedemonte N, Alkhunaizi E, D'Onofrio G, Tortora D, Calì E, Scudieri P, Balagura G, Musante I, Diana MC, Pedemonte M, Vari MS, Iacomino M, Riva A, Chimenz R, Mangano GD, Mohammadi MH, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Accogli A, Schiaffino MC, Maghnie M, Soler MA, Echiverri K, Abrams CK, Striano P, Fortuna S, Maroofian R, Houlden H, Zara F, Fiorillo C, Salpietro V

Orphanet journal of rare diseases2022

DOI: 10.1186/s13023-022-02415-5 PMID: 35854306

Profile data last refreshed on September 29, 2026 from the university directory, publication records and public research funding records.

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Ebba Alkhunaizi

Research

Latest papers

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.

Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.

AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disorders.

Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.

AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder.

Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.

Frequent collaborators

David Chitayat

Patrick Shannon

Laura Russell

Rosanna Weksberg

Levon Halabelian

Hernan Gonorazky

Vanda McNiven

Sharon Unger

Nancy Braverman

Cheryl Arrowsmith

Anne-Marie Laberge

Amy Waldman

William Gibson

Elizabeth McCready

Lili-Naz Hazrati

Lauren Chad

Diane Wherrett

Jagdeep Walia

Kenneth Myers

Olga Jarinova

Annie Dupuis

Harvey Sarnat