Gerarda Cappuccio

Also affiliated with Neurological Research Institute, Federico II University Hospital, Texas Children's Hospital, Telethon Institute Of Genetics And Medicine

Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

1in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 1 indexed paper attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 18 papers. Top paper: “Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders”.

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Nature Communications(2020)10.1038/s41467-020-18723-y

N/A

0.808DataRank · unranked

218 citations

Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe +95 more

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( KIF1A )

Human Mutation(2020)10.1002/humu.24079

N/A

0.553DataRank · unranked

39 citations

Nicole J. Van Bergen, Kristen J. Verhey, Cameron J. Nowell, Breane Budaitis, Yang Yue +18 more

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

Nature Communications(2024)10.1038/s41467-024-50159-6

N/A

0.489DataRank · unranked

25 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +50 more

CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories

European Journal of Human Genetics(2023)10.1038/s41431-023-01305-z

N/A

0.385DataRank · unranked

12 citations

Giuseppe Marangi, Daniela Orteschi, Silvia Frangella, Fiorella Gurrieri, Elisa Paccagnella +25 more

MetaboLINK is a novel algorithm for unveiling cell-specific metabolic pathways in longitudinal datasets

Frontiers in Neuroscience(2025)10.3389/fnins.2024.1520982

N/A

0.104DataRank · unranked

1 citations

Gerarda Cappuccio, Soumya Pati, Alfred K. Dei-Ampeh, Senghong Sing, Lihua Ma +3 more

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders

Journal of Clinical Investigation(2023)10.1172/jci170054

N/A

0DataRank · unranked

33 citations

Liangguang Leo Lin, Zexin Jason Li, Xiaoqiong Wei, Omar Askander, Gerarda Cappuccio +14 more

Mass spectrometry imaging as an emerging tool for studying metabolism in human brain organoids

Frontiers in Molecular Biosciences(2023)10.3389/fmolb.2023.1181965

N/A

0DataRank · unranked

17 citations

Saleh M. Khalil, Sivan Osenberg, Feng Li, Mirjana Maletić‐Savatić, Gerarda Cappuccio

Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening

Cellular and Molecular Life Sciences(2023)10.1007/s00018-023-04705-y

N/A

0DataRank · unranked

11 citations

Miranda J. McDaniel, Riley E. Perszyk, Sukhan Kim, Gerarda Cappuccio, Kevin A. Shapiro +13 more

POU3F3 ‐related disorder: Defining the phenotype and expanding the molecular spectrum

Clinical Genetics(2023)10.1111/cge.14353

N/A

0DataRank · unranked

6 citations

Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Faivre +38 more

Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome

Stem Cell Research(2023)10.1016/j.scr.2023.103292

N/A

0DataRank · unranked

2 citations

Gerarda Cappuccio, Jennifer L. Sheppard, Magdalena Delacruz, Jesse D. Bengtsson, Claudia M.B. Carvalho +9 more

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

medRxiv(2023)10.1101/2023.10.11.23296741

N/A

0DataRank · unranked

1 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +48 more

Rigor and reproducibility in human brain organoid research: Where we are and where we need to go

Stem Cell Reports(2024)10.1016/j.stemcr.2024.04.008

N/A

0DataRank · unranked

63 citations

Gerarda Cappuccio, Karina Kruth, Sivan Osenberg, Saleh M. Khalil, Natasha M. Méndez-Albelo +26 more

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62445

N/A

0DataRank · unranked

27 citations

Anya Revah‐Politi, Subit Barua, Mythily Ganapathi, Andrea Accogli, Vimla S. Aggarwal +29 more

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)10.1016/j.xhgg.2024.100349

N/A

0DataRank · unranked

8 citations

Serena Cecchetti, Gianfranco Bocchinfuso, Francesca Clementina Radio, Chiara Leoni, Roberta Onesimo +30 more

A clinical and genotype-phenotype analysis of MACF1 variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.010

N/A

0DataRank · unranked

1 citations

Rachel Schot, Kimberly A. Aldinger, David B. Everman, Camerun Washington, Julie R. Jones +85 more

Computationally resolved neuroprogenitor cell biomarkers associate with human disorders

Stem Cell Reports(2025)10.1016/j.stemcr.2025.102606

N/A

0DataRank · unranked

0 citations

William T. Choi, Fatih Semerci, Jill A. Rosenfeld, Toni Claire Tacorda, Guantong Qi +7 more

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2020-107462

N/A

0DataRank · unranked

10 citations

Alistair T. Pagnamenta, Matteo P. Ferla, Jonathan Gadian, Brian Hon‐Yin Chung, Marcus C.Y. Chan +33 more

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.007

N/A

0DataRank · unranked

40 citations

Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha +77 more