Publications by authors named "Erin Conboy"

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Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Sara M Fielder, Marisa W Friederich, Daniella H Hock, Jessie R Zhang, Liana M Valin, Erin Conboy

EMBO Mol Med· October 2025

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What Are Ethical Merits and Drawbacks of Viewing "Medical Mysteries" as Human Subject Research?
Tom A Doyle, Erin Conboy

AMA J Ethics· October 2025

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Novel Variant of RARB Gene in Familial Isolated Ocular Coloboma: A Case Report.
Grace Z Armstrong, Kathleen K Ho, Tyler J Knight, Erin E Conboy

Am J Case Rep· October 2025

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De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.
Kevin T A Booth, Sharayu V Jangam, Martin M C Chui, Kayla Treat, Lorenzo Graziani, Erin Conboy

Brain· August 2025

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Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Michael Zech, Ivana Dzinovic, Matej Skorvanek, Philip Harrer, Jan Necpal, Erin Conboy

Brain· August 2025

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Research-Based Whole Genome Sequencing Identifies Biallelic Loss of Function Variants in DOCK3 Gene Causing DOCK3-Related Disorder: The End of a Diagnostic Journey for This Family.
Khurram Liaqat, Kayla Treat, Lili Mantcheva, Aaron McLaughlin, Amy Breman, Erin Conboy

Clin Genet· July 2025

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Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Sara M Fielder, Marisa W Friederich, Daniella H Hock, Jessie R Zhang, Liana M Valin, Erin Conboy

medRxiv· July 2025

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One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.
Ainsley V C Knox, Lauren Y Cominsky, Di Sun, Emylette Cruz Cabrera, Brian E Nolan, Erin Conboy

Blood· May 2025

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Pathogenic Deep Intronic Variant in Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia.
Matthew R Gregory, Khurram Liaqat, Kayla Treat, Kathryn M Haider, Francesco Vetrini, Erin Conboy

Case Rep Genet· May 2025

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Uncovering a Diagnosis Through Reanalysis of Variants in a Patient with Syndactyly, Polydactyly, and Aplasia Cutis Congenita: A Short Report and a Review of the Literature.
Khurram Liaqat, Kimberly Felipe, Kayla Treat, Molly McPheron, David D Weaver, Erin Conboy

Genet Test Mol Biomarkers· April 2025

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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Ivana Lessel, Anja Baresic, Ivan K Chinn, Jonathan May, Anu Goenka, Erin Conboy

Am J Hum Genet· February 2025

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Improving Social Media-Based Support Groups for the Rare Disease Community: Interview Study With Patients and Parents of Children with Rare and Undiagnosed Diseases.
Tom A Doyle, Samantha L Vershaw, Erin Conboy, Colin M E Halverson

JMIR Hum Factors· December 2024

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Performance of Dysmorphology-Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing.
Benjamin M Helm, Lindsey R Helvaty, Erin Conboy, Gabrielle C Geddes, Brett H Graham

Mol Genet Genomic Med· November 2024

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Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Erin Conboy

Nat Commun· September 2024

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A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome.
Khurram Liaqat, Kayla Treat, Lili Mantcheva, Abdul Nasir, David D Weaver, Erin Conboy

Am J Med Genet A· May 2024

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Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.
Rebecca Bruns, Khurram Liaqat, Abdul Nasir, Kayla Treat, Vinaya S Murthy, Erin Conboy

Congenit Anom (Kyoto)· May 2024

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Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder.
Khurram Liaqat, Kayla Treat, Theodore E Wilson, Erin Conboy, Francesco Vetrini

Clin Genet· April 2024

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Macrocephaly and developmental delay caused by missense variants in RAB5C.
Klaas Koop, Weimin Yuan, Federico Tessadori, Wilmer R Rodriguez-Polanco, Jeremy Grubbs, Erin Conboy

Hum Mol Genet· October 2023

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Motivations and expectations of parents seeking genetic testing for their children with ocular genetic disease.
Hannah Gage, Leah Wetherill, Katelynn Anderson, Erin Conboy, Kathryn Haider

Ophthalmic Genet· August 2023

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Case of IFT140-associated Mainzer Saldino Syndrome.
Shivam H Patel, Saaquib Bakhsh, Erin Conboy, Amir R Hajrasouliha

Ophthalmic Genet· April 2023

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A familial variant present in pediatric myelodysplastic syndrome.
Mahvish Q Rahim, April Rahrig, Kathleen Overholt, Erin Conboy, Magdalena Czader

Cold Spring Harb Mol Case Stud· April 2023

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Diagnostic deserts: Community-level barriers to appropriate genetics services.
Tom A Doyle, Erin Conboy, Colin M E Halverson

Am J Med Genet A· January 2023

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Characterization of a novel deep-intronic variant in identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.
Muqsit Buchh, Patrick J Gillespie, Kayla Treat, Marco A Abreu, Tae-Hwi Linus Schwantes-An, Erin Conboy

Cold Spring Harb Mol Case Stud· December 2022

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Reanalysis of a novel variant in the gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program.
Annalise Jacobs, Catherine Burns, Purva Patel, Kayla Treat, Benjamin M Helm, Erin Conboy

Cold Spring Harb Mol Case Stud· February 2022

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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Scott Barish, Tahsin Stefan Barakat, Brittany C Michel, Nazar Mashtalir, Jennifer B Phillips, Erin Conboy

Am J Hum Genet· December 2020

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