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Nicola Brunetti-Pierri

Nicola Brunetti-Pierri

D-Index & Metrics

Biology and Biochemistry

D-Index
61
Citations
42185
World Ranking
11076
National Ranking
313

Overview

Nicola Brunetti-Pierri is affiliated with the University of Naples Federico II in Italy. Their research spans multiple disciplines primarily within biochemistry, genetics, and molecular biology, with significant contributions also in medicine. The main fields of their publications include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Their subfields of study highlight a focus on:

  • Genetics
  • Molecular Biology
  • Physiology
  • Cell Biology
  • Clinical Biochemistry

Nicola Brunetti-Pierri's work covers a variety of topics, largely concentrated on genetic and genomic research, including:

  • Genetics and Neurodevelopmental Disorders
  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Virus-based gene therapy research
  • RNA modifications and cancer
  • Lysosomal Storage Disorders Research
  • CRISPR and Genetic Engineering

Frequent publication venues in which Brunetti-Pierri has contributed include:

  • American Journal of Medical Genetics Part A
  • The American Journal of Human Genetics
  • Nature Communications
  • Genetics in Medicine
  • Human Mutation

Among the recent papers authored or co-authored by Nicola Brunetti-Pierri are:

  • Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders, 2020, Nature Communications
  • Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders, 2021, Human Genetics and Genomics Advances
  • Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study, 2020, The Lancet Diabetes & Endocrinology
  • Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders, 2022, Human Mutation
  • Alpha-1 antitrypsin deficiency: A re-surfacing adult liver disorder, 2021, Journal of Hepatology

The scientist collaborates frequently with several co-authors. Notable frequent collaborators include:

  • Gerarda Cappuccio
  • Vincenzo Nigro
  • Annalaura Torella
  • Michele Pinelli
  • Giancarlo Parenti

Best Publications

  • Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

    Daniel J. Klionsky;Amal Kamal Abdel-Aziz;Sara Abdelfatah;Mahmoud Abdellatif

  • Guidelines for the use and interpretation of assays for monitoring autophagy

    Daniel J. Klionsky;Fabio C. Abdalla;Hagai Abeliovich;Robert T. Abraham

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Discovery of drug mode of action and drug repositioning from transcriptional responses

    Francesco Iorio;Roberta Bosotti;Emanuela Scacheri;Vincenzo Belcastro

  • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

    Nicola Brunetti-Pierri;Jonathan S. Berg;Fernando Scaglia;John Belmont

  • Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition

    Alessandro Luciani;Valeria Rachela Villella;Speranza Esposito;Nicola Brunetti-Pierri

  • GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.

    Nicola Brunetti-Pierri;Fernando Scaglia;Fernando Scaglia

  • Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

    Lee Jun C Wong;Robert K. Naviaux;Nicola Brunetti-Pierri;Qing Zhang

  • Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates.

    Nicola Brunetti-Pierri;Donna J. Palmer;Arthur L. Beaudet;K. Dee Carey

  • Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation

    Nicole Revencu;Laurence M. Boon;Antonella Mendola;Maria Rosa Cordisco

  • Wilson Disease Protein ATP7B Utilizes Lysosomal Exocytosis to Maintain Copper Homeostasis

    Elena V. Polishchuk;Mafalda Concilli;Simona Iacobacci;Giancarlo Chesi

  • Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

    Jonathan S. Berg;Nicola Brunetti-Pierri;Sarika U. Peters;Sung Hae L. Kang

  • Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

    Tianyun Wang;Kendra Hoekzema;Davide Vecchio;Huidan Wu

  • Copy number variants at Williams-Beuren syndrome 7q11.23 region.

    Giuseppe Merla;Nicola Brunetti-Pierri;Nicola Brunetti-Pierri;Lucia Micale;Carmela Fusco

  • Toll-like receptor 9 triggers an innate immune response to helper-dependent adenoviral vectors.

    Vincenzo Cerullo;Michael P Seiler;Viraj Mane;Nicola Brunetti-Pierri

  • Generalized metabolic bone disease in Neurofibromatosis type I.

    Nicola Brunetti-Pierri;Stephen B. Doty;John Hicks;Kelly Phan

  • DUF1220-domain copy number implicated in human brain-size pathology and evolution.

    Laura J. Dumas;Majesta S. O’Bleness;Jonathan M. Davis;Jonathan M. Davis;C. Michael Dickens

  • Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha‐1‐anti‐trypsin deficiency

    Nunzia Pastore;Keith Blomenkamp;Fabio Annunziata;Pasquale Piccolo

Frequent Co-Authors

Brendan Lee
Brendan Lee Baylor College of Medicine
Arthur L. Beaudet
Arthur L. Beaudet Baylor College of Medicine
Vincenzo Nigro
Vincenzo Nigro University of Campania "Luigi Vanvitelli"
Andrea Ballabio
Andrea Ballabio Baylor College of Medicine
Giancarlo Parenti
Giancarlo Parenti University of Naples Federico II
Milton J. Finegold
Milton J. Finegold Baylor College of Medicine
Generoso Andria
Generoso Andria University of Naples Federico II
Sandro Banfi
Sandro Banfi University of Campania "Luigi Vanvitelli"
William J. Craigen
William J. Craigen Baylor College of Medicine
Jozef Gecz
Jozef Gecz University of Adelaide

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