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Author

Justin Blair

Observed name: Justin J. Blair
ORCID: 0000-0002-6570-9147
Observed ORCID: 0000-0002-6570-9147
OpenAlex ID: A5102826016
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms
2023 · Maninder Kaur, Justin Blair, et al. · American Journal of Medical Genetics Part A · 42
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Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases
2022 · Olivia L. Katz, K. Taylor Wild, et al. · The Journal of Pediatrics · 7
GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts.
2024 · Da Wu, Jingye Yang, et al. · PubMed · 5
Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review
2024 · K. Taylor Wild, Laura Conlin, et al. · The Journal of Pediatrics · 4
Multi-omic re-analysis increases diagnostic yield in individuals with Cornelia de Lange syndrome
2026 · Ramakrishnan Rajagopalan, Tejas Jammihal, et al. · npj Genomic Medicine · 1
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Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort
2026 · Justin Blair, Kevin Carratu, et al. · American Journal of Medical Genetics Part A
Revisiting the W ‐Index and Waardenburg Syndrome: A Retrospective Review of Waardenburg Syndrome Diagnoses at a Single Site Hearing Loss Clinic and the Sensitivity, Specificity, and Genotype–Phenotype Correlations of an Elevated W ‐Index
2026 · Kyle Mahoney, Kelsey Crocker, et al. · American Journal of Medical Genetics Part A
Recurrent missense variant identified in two unrelated families with MPZL2 ‐related hearing loss, expanding the variant spectrum associated with DFNB111
2024 · Emma Lo, Justin Blair, et al. · American Journal of Medical Genetics Part A
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Works count: 8
Citation count: 59
H-index: 4
I10-index: 1
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