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AMA Journal of Ethics|October 1, 2025
What Are Ethical Merits and Drawbacks of Viewing "Medical Mysteries" as Human Subject Research?Tom A Doyle, Erin Conboy
Ophthalmic Genetics|February 18, 2026
A review of the genetics and clinical manifestations of Donnai-Barrow syndromeTate Lockwood, Tyler Knight, Erin Conboy
Molecular Syndromology|April 9, 2015
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's PerspectiveAmber Volk, Erin Conboy, Beverly Wical, et al.
Ophthalmic Genetics|May 12, 2023
Motivations and expectations of parents seeking genetic testing for their children with ocular genetic diseaseHannah Gage, Leah Wetherill, Katelynn Anderson, et al.
Seminars in Pediatric Neurology|July 3, 2018
Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the PhenotypeErin Conboy, Duygu Selcen, Michael Brodsky, et al.
Clinical Genetics|February 12, 2024
Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorderKhurram Liaqat, Kayla Treat, Theodore E Wilson, et al.
JMIR Human Factors|January 3, 2025
Improving Social Media-Based Support Groups for the Rare Disease Community: Interview Study With Patients and Parents of Children with Rare and Undiagnosed DiseasesTom A Doyle, Samantha L Vershaw, Erin Conboy, et al.
Cold Spring Harbor Molecular Case Studies|May 9, 2023
A familial SAMD9 variant present in pediatric myelodysplastic syndromeMahvish Q Rahim, April Rahrig, Kathleen Overholt, et al.
Cold Spring Harbor Molecular Case Studies|January 29, 2022
Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) programAnnalise Jacobs, Catherine Burns, Purva Patel, et al.
Genetic Testing and Molecular Biomarkers|April 18, 2025
Uncovering a Diagnosis Through Reanalysis of UBA2 Variants in a Patient with Syndactyly, Polydactyly, and Aplasia Cutis Congenita: A Short Report and a Review of the LiteratureKhurram Liaqat, Kimberly Felipe, Kayla Treat, et al.
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