Concepedia

Gerarda Cappuccio

GC

Statistics

Publications

61

Citations

2.4K

H-Index

29

Active since

1994

Affiliations

Federico II University Hospital(Current)

Telethon Institute Of Genetics And Medicine

University of Naples Federico II

Istituti di Ricovero e Cura a Carattere Scientifico

Baylor College of Medicine

Gerarda Cappuccio is an author at Federico II University Hospital specializing in genetics, life sciences, and molecular genetics.

ORCID

Publications per year

1994–2024

61

Publications

61

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang, Kendra Hoekzema, Davide Vecchio et al. · Nature Communications · 2020 · 215 citations · Full text

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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A. Levy, Haley McConkey, Jennifer Kerkhof et al. · Human Genetics and Genomics Advances · 2021 · 157 citations · Full text

, , +15

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Ingrid S. Paine, Jennifer E. Posey, Christopher M. Grochowski et al. · The American Journal of Human Genetics · 2019 · 116 citations · Full text

, , +8

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı et al. · The Lancet Diabetes & Endocrinology · 2020 · 113 citations · Full text

, , +3

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Pamela Magini, Daphne J. Smits, Laura Vandervore et al. · The American Journal of Human Genetics · 2019 · 85 citations · Full text

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1–5 of 61