Publications by authors named "David Zocche"

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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, Robert H Henderson, Emma Clement

Am J Med Genet A· January 2026

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Novel Insights Aortic Root Dilatation in an Individual with 3p21.31 Deletion.
David Zocche, Lucy Platts, Maha Younes, Andrew Flemming, Nitha Naqvi

Mol Syndromol· December 2025

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GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Lauren Rekerle, Daniel Danis, Filip Rehburg, Adam S L Graefe, Viktor Bily, David Zocche

Am J Hum Genet· December 2025

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Which first? Surgery or biologic therapy for ileocolic Crohn's disease in the real world.
Caroline D M Witjes, Abhilashaben S Patel, David Zocche, Casper van 't Hullenaar, Sarah Cripps

Expert Rev Gastroenterol Hepatol· July 2025

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CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant.
Eszter Sara Arany, David Zocche, Jemima E Mellerio, Muriel Holder-Espinasse, Jan Cobben

Am J Med Genet A· April 2025

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GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Lauren Rekerle, Daniel Danis, Filip Rehburg, Adam Sl Graefe, Viktor Bily, David Zocche

medRxiv· March 2025

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A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.
Daniel Danis, Michael J Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, David Zocche

HGG Adv· January 2025

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Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.
Harriet Copeland, Karen J Low, Sarah L Wynn, Ayesha Ahmed, Victoria Arthur, David Zocche

Genet Med Open· October 2024

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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, David Zocche

Nature· August 2024

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Lethal phenotypes in Mendelian disorders.
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche

Genet Med· July 2024

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A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.
Daniel Danis, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh C Carmody, David Zocche

medRxiv· May 2024

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variants in the non-coding spliceosomal snRNA gene are a frequent cause of syndromic neurodevelopmental disorders.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, David Zocche

medRxiv· April 2024

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Lethal phenotypes in Mendelian disorders.
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche

medRxiv· January 2024

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Global impact of KRAS mutation patterns in FOLFOX treated metastatic colorectal cancer.
David M Zocche, Carolina Ramirez, Fernando M Fontao, Lucas D Costa, María A Redal

Front Genet· April 2015

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