Leo B Waterston

10PUBLICATIONS
87CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Molecular and organic electronicsGene and molecular therapyAboriginal and Torres Strait Islander astronomy and cosmologyTranslational and applied bioinformatics
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Journal

Publications (10)

|Apr 07, 2026
Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort.

Justin Blair, Kevin Carratu, Natalie E Rintoul

|Apr 03, 2026
Expanding the Audiological Phenotype Associated With Activity-Dependent Neuroprotective Protein (ADNP) Syndrome: A Case Report and Literature Review Suggesting a Genotype/Phenotype Correlation.

Kevin Carratu, Kelsey Crocker, Sharon Chen

|Mar 08, 2026
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.

Kyle Mahoney, Kelsey Crocker, Justin Blair

|Mar 02, 2026
Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy.

Maddalena Di Nardo, Francesca Sardina, Maria M Pallotta

|Feb 19, 2026
Summary of the Inaugural ReNU Hope Conference and Scientific Symposium, July 23-25, 2025, Long Island, New York.

Kelsey Crocker, Jillian O'Toole, Lindsay Pearse

|Dec 10, 2025
Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss.

Stefan Rentas, Ramakrishnan Rajagopalan, Tolga Ayazseven

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Frequent Collaborators

3 joint publications

Kenneth D Mandl

3 joint publications

Paul Avillach

3 joint publications

Kevin Carratu

3 joint publications

Kelsey Crocker