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

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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, [...] Laurie S
NPJ Genom Med, 9(1):49, 26 Oct 2024
Cited by: 0 articles | PMID: 39461972 | PMCID: PMC11513043
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Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.
Demidov G, Laurie S, Torella A, Piluso G, Scala M, Morleo M, Nigro V, Graessner H, Banka S, Solve-RD consortium, Lohmann K, Ossowski S
Eur J Hum Genet, 32(8):998-1004, 31 May 2024
Cited by: 1 article | PMID: 38822122 | PMCID: PMC11291474
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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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Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response.
Esposito M, Minnai F, Copetti M, Miscio G, Perna R, Piepoli A, De Vincentis G, Benvenuto M, D'Addetta P, Croci S, Baldassarri M, Bruttini M, Fallerini C, Brugnoni R, Cavalcante P, Baggi F, Corsini EMG, Ciusani E, Andreetta F, [...] Colombo F
Commun Med (Lond), 4(1):63, 04 Apr 2024
Cited by: 0 articles | PMID: 38575714 | PMCID: PMC10995155
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FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Mazel B, Delanne J, Garde A, Racine C, Bruel AL, Duffourd Y, Lopergolo D, Santorelli FM, Marchi V, Pinto AM, Mencarelli MA, Canitano R, Valentino F, Papa FT, Fallerini C, Mari F, Renieri A, Munnich A, Niclass T, [...] Faivre L
Am J Med Genet B Neuropsychiatr Genet, 195(6):e32970, 08 Mar 2024
Cited by: 0 articles | PMID: 38459409
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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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An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, [...] Solve-RD consortium
Gigascience, 13:giae058, 01 Jan 2024
Cited by: 0 articles | PMID: 39302238 | PMCID: PMC11413801
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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
Front Genet, 15, 01 Jan 2024
Cited by: 0 articles | PMCID: PMC11150643
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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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HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19.
Farias TDJ, Brugiapaglia S, Croci S, Magistroni P, Curcio C, Zguro K, Fallerini C, Fava F, Pettini F, Kichula KM, Pollock NR, Font-Porterias N, Palmer WH, Marin WM, Baldassarri M, Bruttini M, Hollenbach JA, Hendricks AE, Meloni I, [...] Amoroso A
HLA, 103(1):e15251, 18 Oct 2023
Cited by: 4 articles | PMID: 37850268
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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
Colombo F, Minnai F, Biscarini F, Esposito M, Dragani T, Bujanda L, Rahmouni S, Alarcon M, Bernardo D, Carnero E, Buti M, Zeberg H, Asselta R, Romero-Gomez M, Fernández-Cádenas I, Fallerini C, Zguro K, Furini S, Renieri A
Research Square, 26 Sep 2023
Cited by: 0 articles | PPR: PPR731222
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Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors.
Serio VB, Palmieri M, Innamorato S, Loberti L, Fallerini C, Ariani F, Antolini E, Covarelli J, Vaghi M, Frullanti E, Renieri A, Pinto AM
Front Genet, 14:1213283, 17 Aug 2023
Cited by: 1 article | PMID: 37662840 | PMCID: PMC10469863
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CYP19A1 mediates severe SARS-CoV-2 disease outcome in males.
Stanelle-Bertram S, Beck S, Mounogou NK, Schaumburg B, Stoll F, Al Jawazneh A, Schmal Z, Bai T, Zickler M, Beythien G, Becker K, de la Roi M, Heinrich F, Schulz C, Sauter M, Krasemann S, Lange P, Heinemann A, van Riel D, [...] Gabriel G
Cell Rep Med, 4(9):101152, 12 Aug 2023
Cited by: 3 articles | PMID: 37572667 | PMCID: PMC10518605
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Multiple genetic control of anti-COVID-19 vaccine response by HLA locus
Colombo F, Esposito M, Minnai F, Copetti M, Miscio G, Perna R, Piepoli A, De Vincentis G, Benvenuto M, D'Addetta P, Croci S, Baldassarri M, Bruttini M, Fallerini C, Brugnoni R, Baggi F, Corsini E, Ciusani E, Andreetta F, [...] Renieri A
Research Square, 17 Jul 2023
Cited by: 0 articles | PPR: PPR692704
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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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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Yaldiz B, Kucuk E, Hampstead J, Hofste T, Pfundt R, Corominas Galbany J, Rinne T, Yntema HG, Hoischen A, Nelen M, Gilissen C, Solve-RD consortium
Hum Genomics, 17(1):39, 03 May 2023
Cited by: 4 articles | PMID: 37138343 | PMCID: PMC10155375
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Effects of the Rho GTPase-activating toxin CNF1 on fibroblasts derived from Rett syndrome patients: A pilot study.
Cittadini C, Germinario EAP, Maroccia Z, Cosentino L, Maselli V, Gambardella L, Giambenedetti M, Guidotti M, Travaglione S, Fallerini C, Renieri A, Marcillo DIE, Ricceri L, Fortini P, De Filippis B, Fiorentini C, Fabbri A
J Cell Mol Med, 27(10):1315-1326, 20 Apr 2023
Cited by: 2 articles | PMID: 37078409 | PMCID: PMC10183712
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Author Correction: Assessment of haptoglobin alleles in autism spectrum disorders.
Cupaioli FA, Mosca E, Magri C, Gennarelli M, Moscatelli M, Raggi ME, Landini M, Galluccio N, Villa L, Bonfanti A, Renieri A, Fallerini C, Minelli A, Marabotti A, Milanesi L, Fasano A, Mezzelani A
Sci Rep, 13(1):6321, 18 Apr 2023
Cited by: 0 articles | PMID: 37072449 | PMCID: PMC10113321
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Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.
Privitera F, Trusso MA, Valentino F, Doddato G, Fallerini C, Brunelli G, D'Aurizio R, Furini S, Goracci A, Fagiolini A, Mari F, Renieri A, Ariani F
Braz J Psychiatry, 45(1):11-19, 11 Mar 2023
Cited by: 1 article | PMID: 35881528 | PMCID: PMC9976914
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Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males.
Fallerini C, Daga S, Benetti E, Picchiotti N, Zguro K, Catapano F, Baroni V, Lanini S, Bucalossi A, Marotta G, Colombo F, Baldassarri M, Fava F, Beligni G, Di Sarno L, Alaverdian D, Palmieri M, Croci S, Isidori AM, [...] Mari F
J Hematol Oncol, 16(1):11, 15 Feb 2023
Cited by: 0 articles | PMID: 36793121 | PMCID: PMC9930717
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Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype.
Doddato G, Fabbiani A, Fallerini C, Bruttini M, Hadjistilianou T, Landi M, Coradeschi C, Grosso S, Tomasini B, Mencarelli MA, Renieri A, Ariani F
Front Genet, 14:1143795, 25 Jan 2023
Cited by: 1 article | PMID: 36761000 | PMCID: PMC9905838
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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, GEN-COVID Multicenter study, Olmi S, Furini S, Renieri A
bioRxiv, 07 Feb 2023
Cited by: 0 articles | PPR: PPR613278
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, [...] Faivre L
Genet Med, 25(4):100018, 20 Jan 2023
Cited by: 4 articles | PMID: 36681873
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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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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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1-25 of 96 results

1 2 3 Next ...

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

Search results

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.

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

Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response.

FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

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

An interconnected data infrastructure to support large-scale rare disease research.

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

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

HLA-DPB113:01 associates with enhanced, and KIR2DS4001 with diminished protection from developing severe COVID-19.

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

Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors.

CYP19A1 mediates severe SARS-CoV-2 disease outcome in males.

Multiple genetic control of anti-COVID-19 vaccine response by HLA locus

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

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.

Effects of the Rho GTPase-activating toxin CNF1 on fibroblasts derived from Rett syndrome patients: A pilot study.

Author Correction: Assessment of haptoglobin alleles in autism spectrum disorders.

Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.

Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males.

Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype.

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

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

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

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

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