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David Zocche

5PUBLICATIONS

93CO-AUTHORS

Infant 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 (5)

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|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

<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> 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

2 joint publications

Adam Sl Graefe

2 joint publications

Adam Klocperk

2 joint publications

Michael H Duyzend

2 joint publications

Tudor Groza

2 joint publications

Jessica X Chong

2 joint publications

Michael J Bamshad

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

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