Ghayda M. Mirzaa

Medical Genetics | Pediatrics

4800 Sand Point Way Ne # Oc.9850
Seattle, WA 98105

Last Updated: 09/26/2026

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Found 123 publications

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Journal: European journal of human genetics : EJHG

Published: April 02, 2026

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.

Journal: bioRxiv : the preprint server for biology

Published: March 27, 2026

Pathogenic variants in the SMARCA1 gene cause a novel neurodevelopmental disorder.

Pathogenic variants in the SMARCA1 gene cause a novel neurodevelopmental disorder.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: February 03, 2026

Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.(Ala106Thr) gain-of-function variant: Structural and phenotypic insights.

Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.(Ala106Thr) gain-of-function variant: Structural and phenotypic insights.

Journal: Epilepsia

Published: October 11, 2025

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.

Journal: Epilepsia

Published: October 02, 2025

Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units.

Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units.

Journal: American journal of medical genetics. Part A

Published: August 24, 2025

Phase 1 study of ABI-009 (nab-rapamycin) for surgically refractory epilepsy (RaSuRE).

Phase 1 study of ABI-009 (nab-rapamycin) for surgically refractory epilepsy (RaSuRE).

Journal: Epilepsia

Published: April 08, 2025

Implementation of First-Line Rapid Genome Sequencing in Non-Critical Care Pediatric Wards.

Implementation of First-Line Rapid Genome Sequencing in Non-Critical Care Pediatric Wards.

Journal: The Journal of pediatrics

Published: April 05, 2025

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.

Journal: American journal of medical genetics. Part A

Published: March 13, 2025

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Journal: American journal of human genetics

Published: February 11, 2025

Evaluation of Targeted Therapies Currently Available for Congenital Genetic Conditions Indexed in GeneReviews.

Evaluation of Targeted Therapies Currently Available for Congenital Genetic Conditions Indexed in GeneReviews.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: December 18, 2024

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

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

Showing 1-12 of 123

Last Updated: 09/26/2026