David Zocche

6PUBLICATIONS
95CO-AUTHORS
Discourse and pragmaticsInfant and child healthEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseases
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Publications (6)

|Sep 20, 2026
Expanding the Progeroid Laminopathy Spectrum: Clinical Variability and Later-Onset Phenotype in Homozygous LMNA c.1579C>T (p.Arg527Cys) Associated Mandibuloacral Dysplasia.

|Aug 14, 2025
Retinal Degeneration Diagnosed at 12 and 13 Months and Sensorineural Hearing Loss in Two Unrelated Female Infants With PRS Deficiency.

David Zocche, Mariya Moosajee, Alpana M Kulkarni

|Mar 17, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.

Lauren Rekerle, Daniel Danis, Filip Rehburg

|Jun 10, 2024
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.

Daniel Danis, Michael J Bamshad, Yasemin Bridges

|Apr 22, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim

|Jan 23, 2024
Lethal phenotypes in Mendelian disorders.

Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver

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Frequent Collaborators

3 joint publications

Pilar Cacheiro

3 joint publications

Peter N Robinson

3 joint publications

Damian Smedley

2 joint publications

Julius O B Jacobsen