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Genetics

D-Index
48
Citations
12342
World Ranking
4039
National Ranking
92

Overview

Laura Papi is affiliated with the University of Florence in Italy and focuses on research within the fields of Medicine and Biochemistry, Genetics and Molecular Biology. Their work primarily covers subfields such as Molecular Biology, Neurology, Genetics, Pulmonary and Respiratory Medicine, and Pathology and Forensic Medicine.

Their research frequently appears in publication venues including:

  • Genetics in Medicine
  • Journal of Clinical Oncology
  • Acta Neuropathologica
  • Cancers
  • JAMA Oncology

Key topics addressed in their studies include:

  • Neurofibromatosis and Schwannoma Cases
  • BRCA gene mutations in cancer
  • Sarcoma Diagnosis and Treatment
  • Chromatin Remodeling and Cancer
  • Genetic factors in colorectal cancer
  • Meningioma and schwannoma management
  • RNA modifications and cancer

Significant recent papers authored include:

  • "Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation," 2021, Genetics in Medicine
  • "Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation," 2022, Genetics in Medicine
  • "Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants," 2020, JAMA Oncology
  • "A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases," 2023, Journal of the American Society of Nephrology
  • "Epigenomic, genomic, and transcriptomic landscape of schwannomatosis," 2020, Acta Neuropathologica

Frequent co-authors collaborating with Laura Papi include:

  • Francesca Gensini
  • Eva Trevisson
  • Jaishri O. Blakeley
  • Anat Stemmer-Rachamimov
  • Gelareh Zadeh

Best Publications

  • Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A

    L M Mulligan;J B Kwok;C S Healey;M J Elsdon

  • Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

    Carl A. Anderson;Gabrielle Boucher;Charlie W. Lees;Andre Franke

  • Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

    E Legius;L Messiaen;P Wolkenstein;P Pancza

  • Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

    Catherine M Phelan;Karoline B Kuchenbaecker;Karoline B Kuchenbaecker;Jonathan P Tyrer;Siddhartha P Kar

  • Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

    Roger L Milne;Roger L Milne;Karoline B Kuchenbaecker;Karoline B Kuchenbaecker;Kyriaki Michailidou;Kyriaki Michailidou;Jonathan Beesley

  • Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

    Haoyu Zhang;Haoyu Zhang;Thomas U. Ahearn;Julie Lecarpentier;Daniel Barnes

  • Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

    Fergus J. Couch;Xianshu Wang;Lesley McGuffog;Andrew Lee

  • Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

    Karoline B Kuchenbaecker;Karoline B Kuchenbaecker;Lesley McGuffog;Daniel Barrowdale;Andrew Lee

  • Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

    Timothy R. Rebbeck;Tara M. Friebel;Eitan Friedman;Ute Hamann

  • High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

    Carl E.G. Bruder;Carina Hirvelä;Isabel Tapia-Paez;Ingegerd Fransson

  • Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.

    Scott Randall Plotkin;Jaishri O. Blakeley;D. Gareth Evans;C. Oliver Hanemann

  • The neurofibromatosis type 2 gene is inactivated in schwannomas

    Elapeth C. Twist;Martin H.Ruttledge;Martin H.Ruttledge;Marylene Rousseau;Marc Sanson;Marc Sanson

  • Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

    Alison M. Dunning;Kyriaki Michailidou;Karoline B. Kuchenbaecker;Deborah Thompson

  • Male breast cancer in BRCA1 and BRCA2 mutation carriers: Pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

    Valentina Silvestri;Daniel Barrowdale;Anna Marie Mulligan;Anna Marie Mulligan;Susan L. Neuhausen

  • Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification

    Michael T. Parsons;Emma Tudini;Hongyan Li;Eric Hahnen

  • Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2

    Emily Gardner;Laura Papi;Laura Papi;Douglas F. Easton;Tim Cummings

  • The location of constitutional neurofibromatosis 2 ( NF2 ) splice site mutations is associated with the severity of NF2

    M E Baser;L Kuramoto;R Woods;H Joe

  • DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

    Ana Osorio;Roger L. Milne;Karoline Kuchenbaecker;Tereza Vaclová

  • Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

    Amanda B. Spurdle;Fergus J. Couch;Michael T. Parsons;Lesley McGuffog

  • Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

    Antonis C Antoniou;Karoline B Kuchenbaecker;Penny Soucy;Jonathan Beesley

Frequent Co-Authors

Irene L. Andrulis
Irene L. Andrulis University of Toronto
Paolo Radice
Paolo Radice Fondazione IRCCS Istituto Nazionale dei Tumori
Melissa C. Southey
Melissa C. Southey Monash University
Paolo Peterlongo
Paolo Peterlongo Memorial Sloan Kettering Cancer Center
Marco Montagna
Marco Montagna Istituto Oncologico Veneto
Esther M. John
Esther M. John Stanford University
Heli Nevanlinna
Heli Nevanlinna University of Helsinki
Anna Jakubowska
Anna Jakubowska Pomeranian Medical University
Fergus J. Couch
Fergus J. Couch Mayo Clinic

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