Publications by authors named "Ghayda Mirzaa"

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Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.(Ala106Thr) gain-of-function variant: Structural and phenotypic insights.
Sebastian Ortiz, Chiara Bagliani, Susan X N Lin, Ali S Kusay, Katri Silvennoinen, Ghayda Mirzaa

Epilepsia· December 2025

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Implementation of First-Line Rapid Genome Sequencing in Non-Critical Care Pediatric Wards.
Alexandra C Keefe, Abbey A Scott, Lukas Kruidenier, Jessie Conta, Darci Sternen, Ghayda Mirzaa

J Pediatr· November 2025

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Phase 1 study of ABI-009 (nab-rapamycin) for surgically refractory epilepsy (RaSuRE).
Koko Hall, Russell Saneto, Stephanie Randle, Mark S Wainwright, Patricia Berry, Ghayda Mirzaa

Epilepsia· November 2025

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Ghayda M Mirzaa, Keqin Yan, Raissa Relator, Mathieu Levesque, Pranisha Jayasinghe

Nat Commun· November 2025

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Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.
Florence Desprez, Solène Remize, Liberty François-Moutal, Dévina C Ung, Audrey Dangoumau, Ghayda M Mirzaa

Mol Psychiatry· November 2025

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Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.
Katrine M Johannesen, Khaing Phyu Aung, Vivian Wy Liao, Nathan L Absalom, Han C Chua, Ghayda M Mirzaa

J Clin Invest· November 2025

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Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Ghayda M Mirzaa

Am J Med Genet A· September 2025

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Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Camille Engel, Michaela Rendek, Jessica Assoumani, Emanuela Argilli, Francesca Ariani, Ghayda Mirzaa

Eur J Hum Genet· August 2025

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Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.
Sankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, Julia Horsfield, Jordan Doran, Ghayda Mirzaa

Am J Hum Genet· July 2025

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Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Iris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, Hellen Lesmann, Aron Kirchhoff, Ghayda M Mirzaa

Am J Hum Genet· March 2025

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Evaluation of Targeted Therapies Currently Available for Congenital Genetic Conditions Indexed in GeneReviews.
Nathan B Adam, Anne R Amemiya, Stephanie E Wallace, Caitlin T Mahon, Ghayda M Mirzaa

Am J Med Genet C Semin Med Genet· March 2025

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Dual diagnosis of -related mitochondrial complex III deficiency and recessive -related cataracts.
Elizabeth E Blue, Samuel J Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Ghayda Mirzaa

Rare· August 2024

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Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing.
Jonathan Marquez, Jennifer N Cech, Cate R Paschal, Bri Dingmann, Anna I Scott, Ghayda M Mirzaa

Genet Med Open· August 2024

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Protein interaction network analysis of mTOR signaling reveals modular organization.
Devin T Wehle, Carter S Bass, Josef Sulc, Ghayda Mirzaa, Stephen E P Smith

J Biol Chem· November 2023

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Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, Lee-Kai Wang, Ulrike Schwarze, Ghayda Mirzaa

Neurol Genet· October 2023

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Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
Emily Shelkowitz, Nicholas V Stence, Ilana Neuberger, Kristen L Park, Margarita S Saenz, Ghayda M Mirzaa

Pediatr Neurol· October 2023

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
David Picketts, Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano

Res Sq· September 2023

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Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Ghayda M Mirzaa

Genet Med· August 2023

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Protein interaction network analysis of mTOR signaling reveals modular organization.
Devin T Wehle, Carter S Bass, Josef Sulc, Ghayda Mirzaa, Stephen E P Smith

bioRxiv· August 2023

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Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Jonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, Giuseppe Albano, Danny E Miller

Ann Clin Transl Neurol· June 2023

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Clinical, neuroimaging and molecular characteristics of -related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.
Nora Oyama, Pieter Vaneynde, Sara Reynhout, Emily M Pao, Andrew Timms, Ghayda M Mirzaa

J Med Genet· May 2023

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Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, Lee-Kai Wang, Ulrike Schwarze, Ghayda Mirzaa

bioRxiv· February 2023

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