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MM

Maria Antonietta Mencarelli

Azienda Ospedaliera Universitaria Senese IT

ORCID 0000-0001-5131-3718
130
Publications
6,715
Citations
44
H-Index
85
i10-Index
2.67
2yr Mean Cite
-
Cite/Paper
Data combined from OpenAlex + Semantic Scholar. OA = OpenAlex S2 = Semantic Scholar
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Publication & Citation Trends

Publications

118 total

Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study PDF

Chiara Fallerini, Sergio Daga, Stefania Mantovani, Elisa Benetti, Nicola Picchiotti et al. - eLife, 2021
Cited by 210 OpenAlex

La nottua del mais ha sconfinato in Emilia

S. Maini, B. Conti, Lavinia Rizzoli, M. Mencarelli - Unknown Venue, 2016
Cited by 1 Semantic Scholar

Evidence of digenic inheritance in Alport syndrome PDF

Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey, Michel van Geel, Bertrand Knebelmann et al. - Journal of Medical Genetics, 2015
Cited by 160 OpenAlex

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

Vittoria Disciglio, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Mafalda Mucciolo, Annabella Marozza et al. - American Journal of Medical Genetics Part A, 2014
Cited by 98 OpenAlex

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients PDF

Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Maria Nicla Loviglio et al. - Orphanet Journal of Rare Diseases, 2011
Cited by 98 OpenAlex

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene PDF

Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo, Nico Leijsten, Daniela Concolino et al. - The American Journal of Human Genetics, 2009
Cited by 145 OpenAlex

Novel <i>FOXG1</i> mutations associated with the congenital variant of Rett syndrome

Maria Antonietta Mencarelli, Ariele Spanhol-Rosseto, Rosangela Artuso, Dalila Rondinella, Roberta De Filippis et al. - Journal of Medical Genetics, 2009
Cited by 108 OpenAlex

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome PDF

Francesca Ariani, Joussef Hayek, Dalila Rondinella, Rosangela Artuso, Maria Antonietta Mencarelli et al. - The American Journal of Human Genetics, 2008
Cited by 432 OpenAlex

Private inherited microdeletion/microduplications: Implications in clinical practice

Maria Antonietta Mencarelli, Eleni Katzaki, Filomena Tiziana Papa, Katia Sampieri, Rossella Caselli et al. - European Journal of Medical Genetics, 2008
Cited by 106 OpenAlex

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)

Alessandra Renieri, Francesca Mari, Maria Antonietta Mencarelli, E. Scala, Francesca Ariani et al. - Brain and Development, 2008
Cited by 98 OpenAlex

Research Topics

Genetics and Neurodevelopmental Disorders (37) Genomic variations and chromosomal abnormalities (34) Genomics and Rare Diseases (21) Autism Spectrum Disorder Research (15) Congenital heart defects research (12)

Affiliations

University of Siena
IT 2021 - 1992
University of Washington
US 2018 - 2018
Ospedale Santa Maria alle Scotte
IT 2013 - 2013
DNA Link (South Korea)
KR 2021 - 2021
Azienda Ospedaliera Universitaria Senese
IT 2025 - 2011

External Profiles

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