Ebba Alkhunaizi
Mount Sinai Hospital
Toronto, ON, Canada
Toronto, ON, Canada
Last Updated: 09/26/2026
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Found 21 publications
Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures.
Journal: American journal of human genetics
Published: January 07, 2026
KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 17, 2025
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.
Journal: The Journal of clinical investigation
Published: December 17, 2024
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
Journal: American journal of human genetics
Published: July 22, 2024
45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.
Journal: American journal of medical genetics. Part A
Published: September 21, 2023
AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder.
Journal: bioRxiv : the preprint server for biology
Published: February 13, 2023
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Journal: American journal of medical genetics. Part A
Published: January 17, 2023
AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disorders.
Journal: Disease models & mechanisms
Published: August 16, 2022
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.
Journal: American journal of medical genetics. Part A
Published: June 14, 2022
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Journal: Orphanet journal of rare diseases
Published: February 07, 2022
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
Journal: Pediatric neurology
Published: October 04, 2021
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
Journal: Brain communications
Published: July 02, 2021
Last Updated: 09/26/2026