Nicola Brunetti‐Pierri

Also affiliated with Scuola Superiore Meridionale, Telethon Institute Of Genetics And Medicine, University of Naples Federico II

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

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 19 papers. Top paper: “Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency”.

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency

EMBO Molecular Medicine(2023)10.15252/emmm.202114837

N/A

0.651DataRank · unranked

17 citations

Karolina Tyka, Matthias Kettwig, Rebecca C. Ahrens‐Nicklas, Matthias G. J. Baud, Tea Berulava +16 more

The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare

Genetics in Medicine(2023)10.1016/j.gim.2023.100022

N/A

0.477DataRank · unranked

23 citations

Nicola Brunetti‐Pierri, Wendy K. Chung, Angus Clarke, Nina B. Gold, Robert C. Green +6 more

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62976

N/A

0.385DataRank · unranked

12 citations

Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Ana Beleza‐Meireles +48 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

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0DataRank · unranked

27 citations

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

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

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

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0DataRank · unranked

10 citations

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

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Brain(2022)10.1093/brain/awac330

N/A

0DataRank · unranked

32 citations

Gilles Tossing, Fred Mulroe, Callum Simmons, Kameryn M. Butler, Alison Schreiber +51 more

Human iPSC-hepatocyte modeling of alpha-1 antitrypsin heterozygosity reveals metabolic dysregulation and cellular heterogeneity

Cell Reports(2022)10.1016/j.celrep.2022.111775

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0DataRank · unranked

19 citations

Rhiannon B. Werder, Feiya Wang, Taylor Matte, Michelle Higgins, Mark Dodge +14 more

O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis

Nature Communications(2022)10.1038/s41467-022-32904-x

N/A

0DataRank · unranked

25 citations

Georgios Makris, A. D’Alessio, Angela De Angelis, Iolanda Boffa, Veronica M. Pravatà +17 more

New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12577

N/A

0DataRank · unranked

8 citations

Maximiliano Presa, Sergio Attanasio, Vincenzo Cacace, Martina Sofia, Aamir Zuberi +9 more

Modeling of Alpha-1 Antitrypsin Deficiency with Syngeneic Human iPSC-Hepatocytes Reveals Metabolic Dysregulation and Cellular Heterogeneity in PiMZ and PiZZ Hepatocytes

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.02.01.478663

N/A

0DataRank · unranked

1 citations

Rhiannon B. Werder, Feiya Wang, Taylor Matte, Michelle Higgins, Mark Dodge +13 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

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.016

N/A

0DataRank · unranked

25 citations

Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc +59 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

Response to Beretich and Beretich

Genetics in Medicine(2023)10.1016/j.gim.2023.100903

N/A

0DataRank · unranked

0 citations

Nicola Brunetti‐Pierri, Wendy K. Chung, Angus Clarke, Nina B. Gold, Robert C. Green +6 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

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

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

N/A

0DataRank · unranked

217 citations

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

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila

Biochemistry and Biophysics Reports(2025)10.1016/j.bbrep.2025.102375

N/A

0DataRank · unranked

0 citations

Sonja Neuser, Gaurav Shrestha, Netra Prasad Neupane, Katharina J. Götze, Nicola Brunetti‐Pierri +26 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

0DataRank · unranked

39 citations

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