Publications by authors named "Brenda Barry"

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Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.
Konstantinia Almpani, Katelin R Devine, Denise K Liberton, Rashmi Mishra, Carol Bassim, Brenda J Barry

Cleft Palate Craniofac J· July 2025

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Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Brenda J Barry

medRxiv· May 2025

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Systematic phenotype and genotype characterization of Moebius syndrome.
Bryn D Webb, Julie A Jurgens, Narisu Narisu, Zhongyang Zhang, Brenda J Barry

Genet Med Open· May 2025

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Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Sarah MacKinnon, Mary C Whitman

Genet Med· April 2025

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Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.
Julie A Jurgens, Paola M Matos Ruiz, Jessica King, Emma E Foster, Lindsay Berube, Brenda J Barry

Invest Ophthalmol Vis Sci· March 2025

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Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays.
Julie A Jurgens, Paola M Matos Ruiz, Jessica King, Emma E Foster, Lindsay Berube, Brenda J Barry

bioRxiv· September 2024

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A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
Arthur S Lee, Lauren J Ayers, Michael Kosicki, Wai-Man Chan, Lydia N Fozo, Brenda J Barry

Nat Commun· September 2024

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A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
François Lecoquierre, A Mattijs Punt, Frédéric Ebstein, Ilse Wallaard, Rob Verhagen, Brenda J Barry

Genet Med· June 2024

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Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia.
Mayra Martinez Sanchez, Wai-Man Chan, Sarah E MacKinnon, Brenda Barry, David G Hunter

JAMA Ophthalmol· March 2024

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Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Sarah MacKinnon, Mary C Whitman

medRxiv· March 2024

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A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
Arthur S Lee, Lauren J Ayers, Michael Kosicki, Wai-Man Chan, Lydia N Fozo, Brenda J Barry

medRxiv· December 2023

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TUBB3 and KIF21A in neurodevelopment and disease.
Dharmendra Puri, Brenda J Barry, Elizabeth C Engle

Front Neurosci· August 2023

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Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Alan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, Wai-Man Chan, Elke de Boer, Brenda J Barry

Nat Genet· July 2023

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Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Daniel Natera-de Benito, Julie A Jurgens, Alison Yeung, Irina T Zaharieva, Adnan Manzur, Brenda J Barry

Hum Mutat· April 2022

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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Mary C Whitman, Brenda J Barry, Caroline D Robson, Flavia M Facio, Carol Van Ryzin

Hum Genet· December 2021

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Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
Julie A Jurgens, Brenda J Barry, Gabrielle Lemire, Wai-Man Chan, Mary C Whitman

Eur J Hum Genet· May 2021

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KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.
Christiane Al-Haddad, Rose-Mary Boustany, Elza Rachid, Karine Ismail, Brenda Barry

Ophthalmic Genet· April 2021

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Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.
Tanya Lehky, Reversa Joseph, Camilo Toro, Tianxia Wu, Carol Van Ryzin, Brenda S Barry

Muscle Nerve· April 2021

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Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles.
Mervyn G Thomas, Gail D E Maconachie, Helen J Kuht, Wai-Man Chan, Viral Sheth, Brenda Barry

Int J Mol Sci· March 2021

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Congenital monocular elevation deficiency associated with a novel gene variant.
Mervyn G Thomas, Gail D E Maconachie, Cris S Constantinescu, Wai-Man Chan, Brenda Barry

Br J Ophthalmol· April 2020

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MAGEL2-related disorders: A study and case series.
Jameson Patak, James Gilfert, Melissa Byler, Vamsee Neerukonda, Isabelle Thiffault, Brenda Barry

Clin Genet· December 2019

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Phenotype delineation of ZNF462 related syndrome.
Paul Kruszka, Tommy Hu, Sungkook Hong, Rebecca Signer, Benjamin Cogné, Brenda J Barry

Am J Med Genet A· October 2019

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Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles.
Gena Heidary, Sarah Mackinnon, Alexandra Elliott, Brenda J Barry, Elizabeth C Engle

J AAPOS· October 2019

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Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans.
Mary C Whitman, Noriko Miyake, Elaine H Nguyen, Jessica L Bell, Paola M Matos Ruiz, Brenda J Barry

Hum Mol Genet· September 2019

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