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Scopus Author ID: 57218852445
SciProfiles: 2500189

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Works (21)

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz‐Isidor Syndrome

American Journal of Medical Genetics Part A
2025-04 | Journal article
DOI: 10.1002/ajmg.a.63953
Contributors: Agnese Feresin; Beatrice Spedicati; Stefania Zampieri; Anna Morgan; Andrea Magnolato; Alessandra Tesser; Alberto Tommasini; Maria Teresa Bonati; Giorgia Girotto; Flavio Faletra
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Expanding the Molecular Spectrum of MMP21 Missense Variants: Clinical Insights and Literature Review

Genes
2025-01-08 | Journal article
DOI: 10.3390/genes16010062
Contributors: Domizia Pasquetti; Paola Tesolin; Federica Perino; Stefania Zampieri; Marco Bobbo; Thomas Caiffa; Beatrice Spedicati; Giorgia Girotto
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Scent of COVID-19: Whole-Genome Sequencing Analysis Reveals the Role of ACE2, IFI44, and NDUFAF4 in Long-Lasting Olfactory Dysfunction

Life
2025-01-05 | Journal article
DOI: 10.3390/life15010056
Contributors: Beatrice Spedicati; Alessandro Pecori; Maria Pina Concas; Aurora Santin; Romina Ruberto; Giuseppe Giovanni Nardone; Andrea D’Alessandro; Giancarlo Tirelli; Paolo Boscolo-Rizzo; Giorgia Girotto
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The Bittersweet Symphony of COVID-19: Associations between TAS1Rs and TAS2R38 Genetic Variations and COVID-19 Symptoms

Life
2024-02-03 | Journal article
DOI: 10.3390/life14020219
Contributors: Aurora Santin; Beatrice Spedicati; Alessandro Pecori; Giuseppe Giovanni Nardone; Maria Pina Concas; Gioia Piatti; Anna Menini; Giancarlo Tirelli; Paolo Boscolo-Rizzo; Giorgia Girotto
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Clenching the Strings of Bruxism Etiopathogenesis: Association Analyses on Genetics and Environmental Risk Factors in a Deeply Characterized Italian Cohort

Biomedicines
2024-01-28 | Journal article
DOI: 10.3390/biomedicines12020304
Contributors: Alessandro Pecori; Valentina Luppieri; Aurora Santin; Beatrice Spedicati; Stefania Zampieri; Milena Cadenaro; Giorgia Girotto; Maria Pina Concas
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Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders

Audiology Research
2023-12-11 | Journal article
DOI: 10.3390/audiolres13060086
Contributors: Paola Tesolin; Aurora Santin; Anna Morgan; Stefania Lenarduzzi; Elisa Rubinato; Giorgia Girotto; Beatrice Spedicati
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Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort

Biomedicines
2023-07-27 | Journal article
DOI: 10.3390/biomedicines11082122
Contributors: Aurora Santin; Beatrice Spedicati; Anna Morgan; Stefania Lenarduzzi; Paola Tesolin; Giuseppe Giovanni Nardone; Daniela Mazzà; Giovanni Di Lorenzo; Federico Romano; Francesca Buonomo et al.
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Whole‐exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases

Molecular Genetics & Genomic Medicine
2023-05 | Journal article
DOI: 10.1002/mgg3.2143
Contributors: Stefania Lenarduzzi; Beatrice Spedicati; Beatrice Alessandrini; Paola Tesolin; Alessia Paldino; Marta Gigli; Gianfranco Sinagra; Paolo Gasparini; Matteo Dal Ferro; Giorgia Girotto
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Regulator of G-Protein Signalling 9: A New Candidate Gene for Sweet Food Liking?

Foods
2023-04-22 | Journal article
DOI: 10.3390/foods12091739
Contributors: Catherine Graham; Beatrice Spedicati; Giulia Pelliccione; Paolo Gasparini; Maria Concas
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Odontostomatological Traits in North-Eastern Italy’s Isolated Populations: An Epidemiological Cross-Sectional Study

Journal of Clinical Medicine
2023-04-06 | Journal article
DOI: 10.3390/jcm12072746
Contributors: Valentina Luppieri; Alessandro Pecori; Beatrice Spedicati; Riccardo Schito; Lucia Pozzan; Aurora Santin; Giorgia Girotto; Milena Cadenaro; Maria Pina Concas
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The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population

Biomedicines
2023-02-24 | Journal article
DOI: 10.3390/biomedicines11030703
Contributors: Beatrice Spedicati; Aurora Santin; Giuseppe Giovanni Nardone; Elisa Rubinato; Stefania Lenarduzzi; Claudio Graziano; Livia Garavelli; Sara Miccoli; Stefania Bigoni; Anna Morgan et al.
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Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals

Communications Biology
2022 | Journal article
DOI: 10.1038/s42003-022-03448-z
EID:

2-s2.0-85131867525

Part of ISSN: 23993642
Contributors: Winkler, T.W.; Rasheed, H.; Teumer, A.; Gorski, M.; Rowan, B.X.; Stanzick, K.J.; Thomas, L.F.; Tin, A.; Hoppmann, A.; Chu, A.Y. et al.
Source: Self-asserted source
Beatrice Spedicati via Scopus - Elsevier

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

American Journal of Medical Genetics, Part A
2022 | Journal article
DOI: 10.1002/ajmg.a.62976
EID:

2-s2.0-85138668472

Part of ISSN: 15524833 15524825
Contributors: Sy, M.R.; Chauhan, J.; Prescott, K.; Imam, A.; Kraus, A.; Beleza, A.; Salkeld, L.; Hosdurga, S.; Parker, M.; Vasudevan, P. et al.
Source: Self-asserted source
Beatrice Spedicati via Scopus - Elsevier

Genome-wide analysis in over 1 million individuals reveals over 2,000 independent genetic signals for blood pressure

ResearchSquare
2022 | Other
DOI: 10.21203/rs.3.rs-1409164
EID:

2-s2.0-85134100307
Contributors: Warren, H.; Edwards, T.; Vaez, A.; Keaton, J.; Kamali, Z.; Xie, T.; Ani, A.; Evangelou, E.; Hellwege, J.; Yengo, L. et al.
Source: Self-asserted source
Beatrice Spedicati via Scopus - Elsevier

Infant with a big head and ‘crossed’ polysyndactyly

Journal of Paediatrics and Child Health
2022 | Journal article
DOI: 10.1111/jpc.16063
EID:

2-s2.0-85132067932

Part of ISSN: 14401754 10344810
Contributors: Tamaro, G.; Baldo, F.; Spedicati, B.; Taddio, A.; Faletra, F.; Barbi, E.
Source: Self-asserted source
Beatrice Spedicati via Scopus - Elsevier

Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures

Genes
2022-11-03 | Journal article
DOI: 10.3390/genes13112023
Contributors: Beatrice Spedicati; Anna Morgan; Giulia Pianigiani; Luciana Musante; Elisa Rubinato; Aurora Santin; Giuseppe Giovanni Nardone; Flavio Faletra; Giorgia Girotto
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Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates

European Journal of Human Genetics
2021-08-16 | Journal article
DOI: 10.1038/s41431-021-00850-9
Contributors: Beatrice Spedicati; Massimiliano Cocca; Roberto Palmisano; Flavio Faletra; Caterina Barbieri; Margherita Francescatto; Massimo Mezzavilla; Anna Morgan; Giulia Pelliccione; Paolo Gasparini et al.
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The Role of Knockout Olfactory Receptor Genes in Odor Discrimination

Genes
2021-04-23 | Journal article
DOI: 10.3390/genes12050631
Contributors: Maria Pina Concas; Massimiliano Cocca; Margherita Francescatto; Thomas Battistuzzi; Beatrice Spedicati; Agnese Feresin; Anna Morgan; Paolo Gasparini; Giorgia Girotto
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COVID-19 experience: First Italian survey on healthcare staff members from a Mother-Child Research Hospital using combined molecular and rapid immunoassays test.

medRxiv
2020 | Other
DOI: 10.1101/2020.04.19.20071563
EID:

2-s2.0-85099251001
Contributors: Comar, M.; Brumat, M.; Concas, M.P.; Argentini, G.; Bianco, A.; Bicego, L.; Bottega, R.; Carli, P.; Cassone, A.; Catamo, E. et al.
Source: Self-asserted source
Beatrice Spedicati via Scopus - Elsevier

In the covid-19 storm: It is time to swab! questions to learn and abcd to remember,Nella tempesta del Covid-19: E tempo di tamponi!: Le domande per imparare e l'abcd per ricordare

Medico e Bambino
2020 | Journal article
EID:

2-s2.0-85090467838

Part of ISSN: 15913090
Contributors: Feresin, A.; Spedicati, B.; Del Pin, M.; Staffa, P.; Castro, V.; Grasso, D.L.; Argentini, G.; Orzan, E.; Muzzi, E.
Source: Self-asserted source
Beatrice Spedicati via Scopus - Elsevier

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population

Genes
2020-10 | Journal article | Author
DOI: 10.3390/genes11111237
Contributors: Anna Morgan; Stefania Lenarduzzi; Beatrice Spedicati; Elisabetta Cattaruzzi; FLORA MARIA MURRU; Giulia Pelliccione; Daniela Mazzà; Marcella Zollino; Claudio Graziano; Umberto Ambrosetti et al.
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Multidisciplinary Digital Publishing Institute
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