AUTH:"Tita R" - Search results

Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.

Daga S, Loberti L, Rollo G, Adamo L, Colavecchio OL, Brunelli G, Zguro K, Tripodi SA, Guarnieri A, Garosi G, D'Aurizio R, Ariani F, Tita R, Renieri A, Pinto AM

Eur J Hum Genet, 19 Oct 2024

Cited by: 0 articles | PMID: 39424670

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Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features.

Martelloni G, Turchi A, Fallerini C, Degl'Innocenti A, Baldassarri M, Olmi S, Furini S, Renieri A, GEN-COVID Multicenter study

Front Genet, 15:1362469, 22 May 2024

Cited by: 0 articles | PMID: 38841724

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A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death.

Minnai F, Biscarini F, Esposito M, Dragani TA, Bujanda L, Rahmouni S, Alarcón-Riquelme ME, Bernardo D, Carnero-Montoro E, Buti M, Zeberg H, Asselta R, Romero-Gómez M, GEN-COVID Multicenter Study, Fernandez-Cadenas I, Fallerini C, Zguro K, Croci S, Baldassarri M, [...] Colombo F

Sci Rep, 14(1):3000, 06 Feb 2024

Cited by: 2 articles | PMID: 38321133 | PMCID: PMC10847137

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Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.

Daga S, Donati F, Capitani K, Croci S, Tita R, Giliberti A, Valentino F, Benetti E, Fallerini C, Niccheri F, Baldassarri M, Mencarelli MA, Frullanti E, Furini S, Conticello SG, Renieri A, Pinto AM

Eur J Hum Genet, 32(1):131, 01 Jan 2024

Cited by: 0 articles | PMID: 36653516 | PMCID: PMC10772060

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Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.

Croci S, Carriero ML, Capitani K, Daga S, Donati F, Frullanti E, Lamacchia V, Tita R, Giliberti A, Valentino F, Benetti E, Ciabattini A, Furini S, Lo Rizzo C, Pinto AM, Conticello SG, Renieri A, Meloni I

Eur J Hum Genet, 32(1):134, 01 Jan 2024

Cited by: 0 articles | PMID: 36732665 | PMCID: PMC10772066

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Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder.

Bergantini L, Baldassarri M, d'Alessandro M, Brunelli G, Fabbri G, Zguro K, Degl'Innocenti A, GEN-COVID Multicenter study, Fallerini C, Bargagli E, Renieri A

Respir Res, 24(1):158, 16 Jun 2023

Cited by: 5 articles | PMID: 37328761 | PMCID: PMC10276396

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Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.

Baldassarri M, Zguro K, Tomati V, Pastorino C, Fava F, Croci S, Bruttini M, Picchiotti N, Furini S, Pedemonte N, Gabbi C, Renieri A, Fallerini C, Gen-Covid Multicenter Study

Cells, 11(24):4096, 16 Dec 2022

Cited by: 4 articles | PMID: 36552859 | PMCID: PMC9776607

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Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).

Grati FR, Bestetti I, De Siero D, Malvestiti F, Villa N, Sala E, Crosti F, Parisi V, Nardone AM, Di Giacomo G, Pettinari A, Tortora G, Montaldi A, Calò A, Saccilotto D, Zanchetti S, Celli P, Guerneri S, Silipigni R, [...] Novelli A

Prenat Diagn, 42(13):1575-1586, 30 Nov 2022

Cited by: 0 articles | PMID: 36403097

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An explainable model of host genetic interactions linked to COVID-19 severity.

Onoja A, Picchiotti N, Fallerini C, Baldassarri M, Fava F, GEN-COVID Multicenter Study, Colombo F, Chiaromonte F, Renieri A, Furini S, Raimondi F

Commun Biol, 5(1):1133, 26 Oct 2022

Cited by: 4 articles | PMID: 36289370 | PMCID: PMC9606365

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A first update on mapping the human genetic architecture of COVID-19.

COVID-19 Host Genetics Initiative

Nature, 608(7921):E1-E10, 03 Aug 2022

Cited by: 67 articles | PMID: 35922517 | PMCID: PMC9352569

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Whole-genome sequencing reveals host factors underlying critical COVID-19.

Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA, Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X, Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang B, Rhodes D, Klaric L, [...] Baillie JK

Nature, 607(7917):97-103, 07 Mar 2022

Cited by: 158 articles | PMID: 35255492 | PMCID: PMC9259496

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New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.

Bruno LP, Doddato G, Valentino F, Baldassarri M, Tita R, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Fabbiani A, Lamacchia V, Carrer A, Caputo V, Granata S, Benetti E, Zguro K, [...] Ariani F

Int J Mol Sci, 22(24):13439, 14 Dec 2021

Cited by: 19 articles | PMID: 34948243 | PMCID: PMC8707363

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Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients.

Mantovani S, Daga S, Fallerini C, Baldassarri M, Benetti E, Picchiotti N, Fava F, Gallì A, Zibellini S, Bruttini M, Palmieri M, Croci S, Amitrano S, Alaverdian D, Capitani K, Furini S, Mari F, Meloni I, GEN-COVID Multicenter Study, [...] Renieri A

Genes Immun, 23(1):51-56, 24 Dec 2021

Cited by: 34 articles | PMID: 34952932 | PMCID: PMC8703210

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Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay.

Bruno LP, Fava F, Baldassarri M, Salvati VM, Scandurra V, Canitano R, Valentino F, Doddato G, Tita R, Giliberti A, Renieri A, Ariani F

J Autism Dev Disord, 52(10):4605-4607, 28 Oct 2021

Cited by: 0 articles | PMID: 34709531

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Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.

Fallerini C, Picchiotti N, Baldassarri M, Zguro K, Daga S, Fava F, Benetti E, Amitrano S, Bruttini M, Palmieri M, Croci S, Lista M, Beligni G, Valentino F, Meloni I, Tanfoni M, Minnai F, Colombo F, Cabri E, [...] Furini S

Hum Genet, 141(1):147-173, 10 Dec 2021

Cited by: 20 articles | PMID: 34889978 | PMCID: PMC8661833

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Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality.

Nakanishi T, Pigazzini S, Degenhardt F, Cordioli M, Butler-Laporte G, Maya-Miles D, Bujanda L, Bouysran Y, Niemi ME, Palom A, Ellinghaus D, Khan A, Martínez-Bueno M, Rolker S, Amitrano S, Roade Tato L, Fava F, FinnGen, COVID-19 Host Genetics Initiative (HGI), [...] Ganna A

J Clin Invest, 131(23):e152386, 01 Dec 2021

Cited by: 68 articles | PMID: 34597274 | PMCID: PMC8631592

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Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.

Doddato G, Valentino F, Giliberti A, Papa FT, Tita R, Bruno LP, Resciniti S, Fallerini C, Benetti E, Palmieri M, Mencarelli MA, Fabbiani A, Bruttini M, Orrico A, Baldassarri M, Fava F, Lopergolo D, Rizzo CL, Lamacchia V, [...] Ariani F

Front Oncol, 11:740860, 17 Aug 2021

Cited by: 1 article | PMID: 34485163 | PMCID: PMC8416239

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Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.

Valentino F, Bruno LP, Doddato G, Giliberti A, Tita R, Resciniti S, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Baldassarri M, Fabbiani A, Lamacchia V, Benetti E, Zguro K, Furini S, [...] Ariani F

Brain Sci, 11(7):936, 16 Jul 2021

Cited by: 13 articles | PMID: 34356170 | PMCID: PMC8303733

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Mapping the human genetic architecture of COVID-19.

COVID-19 Host Genetics Initiative

Nature, 600(7889):472-477, 08 Jul 2021

Cited by: 509 articles | PMID: 34237774 | PMCID: PMC8674144

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Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes

Doddato G, Valentino F, Giliberti A, Papa FT, Tita R, Bruno LP, Resciniti S, Fallerini C, Benetti E, Palmieri M, Mencarelli MA, Fabbiani A, Bruttini M, Orrico A, Baldassarri M, Fava F, Lopergolo D, Lo Rizzo C, Lamacchia V, [...] Ariani F

Front Oncol, 11:649435, 07 May 2021

Cited by: 7 articles | PMID: 34026625 | PMCID: PMC8139251

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C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age.

Zanella I, Zacchi E, Piva S, Filosto M, Beligni G, Alaverdian D, Amitrano S, Fava F, Baldassarri M, Frullanti E, Meloni I, Renieri A, GEN-COVID Multicenter Study, GEVACOBA Study Group, Castelli F, Quiros-Roldan E

Int J Mol Sci, 22(13):6991, 29 Jun 2021

Cited by: 10 articles | PMID: 34209673 | PMCID: PMC8268051

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Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research.

Daga S, Fallerini C, Baldassarri M, Fava F, Valentino F, Doddato G, Benetti E, Furini S, Giliberti A, Tita R, Amitrano S, Bruttini M, Meloni I, Pinto AM, Raimondi F, Stella A, Biscarini F, Picchiotti N, Gori M, [...] Frullanti E

Eur J Hum Genet, 29(5):745-759, 17 Jan 2021

Cited by: 29 articles | PMID: 33456056 | PMCID: PMC7811682

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Clinical and molecular characterization of COVID-19 hospitalized patients.

Benetti E, Giliberti A, Emiliozzi A, Valentino F, Bergantini L, Fallerini C, Anedda F, Amitrano S, Conticini E, Tita R, d'Alessandro M, Fava F, Marcantonio S, Baldassarri M, Bruttini M, Mazzei MA, Montagnani F, Mandalà M, Bargagli E, [...] Mari F

PLoS One, 15(11):e0242534, 18 Nov 2020

Cited by: 22 articles | PMID: 33206719 | PMCID: PMC7673557

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Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women.

Monticelli M, Hay Mele B, Benetti E, Fallerini C, Baldassarri M, Furini S, Frullanti E, Mari F, Andreotti G, Cubellis MV, Renieri A, Gen-Covid Multicenter Study

Genes (Basel), 12(4):596, 19 Apr 2021

Cited by: 35 articles | PMID: 33921689 | PMCID: PMC8073081

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

Fallerini C, Daga S, Mantovani S, Benetti E, Picchiotti N, Francisci D, Paciosi F, Schiaroli E, Baldassarri M, Fava F, Palmieri M, Ludovisi S, Castelli F, Quiros-Roldan E, Vaghi M, Rusconi S, Siano M, Bandini M, Spiga O, [...] Frullanti E

Elife, 10:e67569, 02 Mar 2021

Cited by: 126 articles | PMID: 33650967 | PMCID: PMC7987337

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Search life-sciences literature (45,103,589 articles, preprints and more)

Search results

Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.

Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features.

A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death.

Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.

Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.

Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder.

Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.

Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).

An explainable model of host genetic interactions linked to COVID-19 severity.

A first update on mapping the human genetic architecture of COVID-19.

Whole-genome sequencing reveals host factors underlying critical COVID-19.

New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.

Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients.

Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay.

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.

Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality.

Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.

Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.

Mapping the human genetic architecture of COVID-19.

Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes

C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age.

Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research.

Clinical and molecular characterization of COVID-19 hospitalized patients.

Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women.

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

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