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Romano Tenconi

Romano Tenconi

D-Index & Metrics

Genetics

D-Index
44
Citations
8180
World Ranking
4260
National Ranking
99

Overview

Romano Tenconi is affiliated with the University of Padua in Italy. Their research primarily spans the fields of Biochemistry, Genetics, and Molecular Biology, with a significant focus on Molecular Biology and Genetics. Their work also touches on Pediatrics, Perinatology and Child Health, Plant Science, and Surgery.

Tenconi's research topics include:

  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Epigenetics and DNA Methylation
  • RNA modifications and cancer
  • Genetic Syndromes and Imprinting
  • Genomic variations and chromosomal abnormalities
  • Genomics and Chromatin Dynamics

They have published extensively in several scientific venues, with the most frequent outlets being:

  • The American Journal of Human Genetics (4 publications)
  • European Journal of Human Genetics (3 publications)
  • Genetics in Medicine (2 publications)
  • Genes (2 publications)
  • Clinical Epigenetics (1 publication)

Some of their recent papers include:

  • DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes, 2020, The American Journal of Human Genetics
  • SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females, 2021, The American Journal of Human Genetics
  • Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance, 2020, Clinical Epigenetics
  • Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants, 2022, Journal of Medical Genetics
  • Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes, 2022, Nature Communications

Tenconi collaborates frequently with a number of coauthors, including:

  • Maria Iascone
  • Antonio Vitobello
  • Angelo Selicorni
  • Laurence Faivre
  • Sally Ann Lynch

Best Publications

  • Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

    Bhaswati Pandit;Anna Sarkozy;Len A Pennacchio;Claudio Carta

  • Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide

    B. Wilcken;F. Bamforth;Z. Li;H. Zhu

  • Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

    Viviana Cordeddu;Elia Di Schiavi;Len A. Pennacchio;Len A. Pennacchio;Avi Ma’ayan

  • p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation

    Hans van Bokhoven;Ben C.J. Hamel;Mike Bamshad;Eugenio Sangiorgi

  • Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1.

    Angela E. Lin;Patricia H. Birch;Bruce R. Korf;Romano Tenconi

  • The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

    A. Schinzel;W. Schmid;M. Fraccaro;L. Tiepolo

  • Methimazole embryopathy: delineation of the phenotype.

    Maurizio Clementi;Elena Di Gianantonio;Elisabetta Pelo;Isabella Mammi

  • Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.

    Zollino M;Di Stefano C;Zampino G;Mastroiacovo P

  • International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies.

    Guido Cocchi;Silvia Gualdi;Caroline Bower;Jane Halliday

  • Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance.

    Maurizio Clementi;Luisa Notari;Adele Borghi;Romano Tenconi

  • Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

    Elena Rossi;Flavia Piccini;Marcella Zollino;Giovanni Neri

  • Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.

    David A. Stevenson;Patricia H. Birch;J.M. Friedman;David H. Viskochil

  • Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

    Matthew Bower;Rémi Salomon;Judith Allanson;Corinne Antignac

  • Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2

    M Venturin;P Guarnieri;F Natacci;M Stabile

  • Neurofibromatosis type 1 growth charts.

    M. Clementi;S. Milani;I. Mammi;S. Boni

  • Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.

    C. Lázaro;Antonia Gaona;Peter Ainsworth;Romano Tenconi

  • NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes

    Paola Riva;Lucia Corrado;Federica Natacci;Pierangela Castorina

  • An Inheritable Anomaly of Red-Cell Oxalate Transport in Primary Calcium Nephrolithiasis Correctable with Diuretics

    Bruno Baggio;Giovanni Gambaro;Francesco Marchini;Elisa Cicerello

  • STK11 Mutations in Peutz-Jeghers Syndrome and Sporadic Colon Cancer

    Nicoletta Resta;Cristiano Simone;Cristina Mareni;Mariapina Montera

  • Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2

    Seana P. Covello;Frances J.D. Smith;Carrie S. Coleman;J. Henk Sillevis Smitt

Frequent Co-Authors

Lidia Larizza
Lidia Larizza University of Milan
Bruno Dallapiccola
Bruno Dallapiccola Bambino Gesù Children's Hospital
Orsetta Zuffardi
Orsetta Zuffardi University of Pavia
Leonardo Salviati
Leonardo Salviati University of Padua
Marco Tartaglia
Marco Tartaglia Bambino Gesù Children's Hospital
Giovanni Neri
Giovanni Neri Catholic University of the Sacred Heart
Meena Upadhyaya
Meena Upadhyaya Cardiff University
Marcella Zollino
Marcella Zollino Catholic University of the Sacred Heart
Francesca Mari
Francesca Mari University of Siena
Len A. Pennacchio
Len A. Pennacchio Lawrence Berkeley National Laboratory

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