Gerarda Cappuccio

Beth Israel Deaconess Medical Center — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

29h-index2.6kcitations140works8.32yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(40), Genomics and Rare Diseases(30), Genomic variations and chromosomal abnormalities(26), Epigenetics and DNA Methylation(15), Congenital heart defects research(11)

Publications138 total

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective
European Journal of Human Genetics·2025· 1 citedOpen Access
A clinical and genotype-phenotype analysis of MACF1 variants
The American Journal of Human Genetics·2025· 1 citedOpen Access
Computationally resolved neuroprogenitor cell biomarkers associate with human disorders
Stem Cell Reports·2025Open Access
Abstract 1976 Bi-allelic inactivating variants of lactosylceramide synthase B4GALT5 responsible for a novel congenital disorder of glycosylation involving glycosphingolipids
Journal of Biological Chemistry·2025Open Access
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration
Nature Communications·2025· 4 citedOpen Access
Variability in autism spectrum phenotypes linked to heterozygous missense familial ANK2 mutation
European Journal of Medical Genetics·2025· 1 citedOpen Access
MetaboLINK is a novel algorithm for unveiling cell-specific metabolic pathways in longitudinal datasets
Frontiers in Neuroscience·2025· 1 citedOpen Access
Deletion Testing of the <i>DEGS1</i> Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)
Human Mutation·2025· 1 citedOpen Access
Molecular Imaging of Human Brain Organoids Using Mass Spectrometry
Journal of Visualized Experiments·2024· 1 cited
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function
Human Genetics and Genomics Advances·2024· 8 citedOpen Access
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
Nature Communications·2024· 17 citedOpen Access
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
The American Journal of Human Genetics·2024· 16 citedOpen Access
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to <scp><i>FOXP1</i></scp> likely gene disruptive variants
American Journal of Medical Genetics Part A·2024Open Access
Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype
American Journal of Medical Genetics Part C Seminars in Medical Genetics·2024· 7 citedOpen Access
Rigor and reproducibility in human brain organoid research: Where we are and where we need to go
Stem Cell Reports·2024· 43 citedOpen Access
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor
Cellular and Molecular Life Sciences·2024· 15 citedOpen Access
L-serine treatment in patients with <i>GRIN</i>-related encephalopathy: a phase 2A, non-randomized study
Brain·2024· 25 cited
Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome
Stem Cell Research·2023· 2 citedOpen Access
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders
Journal of Clinical Investigation·2023· 30 citedOpen Access
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations
Journal of Clinical Immunology·2023· 1 citedOpen Access
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Frequent Co-authors

Nicola Brunetti‐Pierri(35), Michele Pinelli(10), Daniela Melis(9), Vincenzo Nigro(9), Annalaura Torella(8), Rita Genesio(7), Lucio Nitsch(7), Silvia Maitz(6), Ennio Del Giudice(6), Generoso Andria(6), Jennifer Kerkhof(5), Antonio Vitobello(5), Bekim Sadiković(5), Giuseppina Vitiello(5), Valeria Capra(5), Marianna Alagia(5), Sandro Banfi(5), Miroslava Hančárová(4), Gijs W.E. Santen(4), María Palomares‐Bralo(4)