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1 . Academic Journal
Cascade testing for hereditary cancer: comprehensive multigene panels identify unexpected actionable findings in relatives.
저자
by
Heald, Brandie
;
Pirzadeh-Miller, Sara
;
Ellsworth, Rachel E
;
Nielsen, Sarah M
;
Russell, Emily M
, et al.
소스
JNCI: Journal of the National Cancer Institute
. Feb2024, Vol. 116 Issue 2, p334-337. 4p.
Full Text (OUP)
Web of Science
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7 . Academic Journal
Prioritizing genes for systematic variant effect mapping.
저자
by
Kuang, Da
;
Truty, Rebecca
;
Weile, Jochen
;
Johnson, Britt
;
Nykamp, Keith
, et al.
소스
Bioinformatics
. Dec2020, Vol. 36 Issue 22/23, p5448-5455. 8p.
Full Text (OUP Near Archive)
Open Access (OUP)
Web of Science
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7 . Academic Journal
OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.
저자
by
Festa, Beatrice Paola
;
Berquez, Marine
;
Gassama, Alkaly
;
Amrein, Irmgard
;
Ismail, Hesham M
, et al.
소스
Human Molecular Genetics; 6/15/2019, Vol. 28 Issue 12, p1931-1946, 16p
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7 . Periodical
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
저자
by
Milne, Roger L
;
Kuchenbaecker, Karoline B
;
Michailidou, Kyriaki
;
Beesley, Jonathan
;
Kar, Siddhartha
, et al.
소스
Nature Genetics; December 2017, Vol. 49 Issue: 12 p1767-1778, 12p
Web of Science
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7 . Periodical
Sources of discordance among germ-line variant classifications in ClinVar
저자
by
Yang, Shan
;
Lincoln, Stephen E
;
Kobayashi, Yuya
;
Nykamp, Keith
;
Nussbaum, Robert L
, et al.
소스
Genetics in Medicine; October 2017, Vol. 19 Issue: 10 p1118-1126, 9p
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7 .
The genetic architecture of Plakophilin 2 cardiomyopathy
저자
by
Dries, Annika M
;
Kirillova, Anna
;
Reuter, Chloe M
;
Garcia, John
;
Zouk, Hana
, et al.
소스
Open Access (OpenAIRE)
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7 . Academic Journal
A Targeted shRNA Knockdown Screen of Phosphoinositide Modulator Genes Reveals INPP5B As Required for Cell Cycle Progression of MLL-AF9 Acute Myeloid Leukemia Cells
저자
by
Blaser, Julian
;
Nussbaum, Robert L
;
Divecha, Nullin
;
Somervaille, Tim
.
소스
In
Blood
18 November 2011 118(21):2444-2444
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6 .
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths
저자
by
Bastard, Paul
;
Gervais, Adrian
;
Le Voyer, Tom
;
Rosain, Jérémie
;
Philippot, Quentin
, et al.
소스
Science Immunology
Science Immunology, 2021, 6 (62), pp.eabl4340. ⟨10.1126/sciimmunol.abl4340⟩
ISI atlas of science. Immunology 6 (2021). doi:10.1126/sciimmunol.abl4340
info:cnr-pdr/source/autori:Bastard P.; Gervais A.; Le Voyer T.; Rosain J.; Philippot Q.; Manry J.; Michailidis E.; Hoffmann H.-H.; Eto S.; Garcia-Prat M.; Bizien L.; Parra-Martinez A.; Yang R.; Haljasmagi L.; Migaud M.; Sarekannu K.; Maslovskaja J.; Prost N.D.; Tandjaoui-Lambiotte Y.; Luyt C.-E.; Amador-Borrero B.; Gaudet A.; Poissy J.; Morel P.; Richard P.; Cognasse F.; Troya J.; Trouillet-Assant S.; Belot A.; Saker K.; Garcon P.; Riviere J.G.; Lagier J.-C.; Gentile S.; Rosen L.B.; Shaw E.; Morio T.; Tanaka J.; Dalmau D.; Tharaux P.-L.; Sene D.; Stepanian A.; Megarbane B.; Triantafyllia V.; Fekkar A.; Heath J.R.; Franco J.L.; Anaya J.-M.; Sole-Violan J.; Imberti L.; Biondi A.; Bonfanti P.; Castagnoli R.; Delmonte O.M.; Zhang Y.; Snow A.L.; Holland S.M.; Biggs C.M.; Moncada-Velez M.; Arias A.A.; Lorenzo L.; Boucherit S.; Coulibaly B.; Anglicheau D.; Planas A.M.; Haerynck F.; Duvlis S.; Nussbaum R.L.; Ozcelik T.; Keles S.; Bousfiha A.A.; Bakkouri J.E.; Ramirez-Santana C.; Paul S.; Pan-Hammarstrom Q.; Hammarstrom L.; Dupont A.; Kurolap A.; Metz C.N.; Aiuti A.; Casari G.; Lampasona V.; Ciceri F.; Barreiros L.A.; Dominguez-Garrido E.; Vidigal M.; Zatz M.; Beek D.V.D.; Sahanic S.; Tancevski I.; Stepanovskyy Y.; Boyarchuk O.; Nukui Y.; Tsumura M.; Vidaur L.; Tangye S.G.; Burrel S.; Duffy D.; Quintana-Murci L.; Klocperk A.; Kann N.Y.; Shcherbina A.; Lau Y.-L.; Leung D.; Coulongeat M.; Marlet J.; Koning R.; Reyes L.F.; Chauvineau-Grenier A.; Venet F.; Monneret G.; Nussenzweig M.C.; Arrestier R.; Boudhabhay I.; Baris-Feldman H.; Hagin D.; Wauters J.; Meyts I.; Dyer A.H.; Kennelly S.P.; Bourke N.M.; Halwani R.; Sharif-Askari N.S.; Dorgham K.; Sallette J.; Sedkaoui S.M.; AlKhater S.; Rigo-Bonnin R.; Morandeira F.; Roussel L.; Vinh D.C.; Ostrowski S.R.; Condino-Neto A.; Prando C.; Bondarenko A.; Spaan A.N.; Gilardin L.; Fellay J.; Lyonnet S.; Bilguvar K.; Lifton R.P.; Mane S.; Anderson M.S.; Boisson B.; Beziat V.; Zhang S.-Y.; Andreakos E.; Hermine O.; Pujol A.; Peterson P.; Mogensen T.H.; Rowen L.; Mond J.; Debette S.; Lamballerie X.D.; Duval X.; Mentre F.; Zins M.; Soler-Palacin P.; Colobran R.; Gorochov G.; Solanich X.; Susen S.; Martinez-Picado J.; Raoult D.; Vasse M.; Gregersen P.K.; Piemonti L.; Rodriguez-Gallego C.; Notarangelo L.D.; Su H.C.; Kisand K.; Okada S.; Puel A.; Jouanguy E.; Rice C.M.; Tiberghien P.; Zhang Q.; Cobat A.; Abel L.; Casanova J.-L./titolo:Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths/doi:10.1126%2Fsciimmunol.abl4340/rivista:ISI atlas of science. Immunology/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:6
Science Immunology, 2021, 6 (62), ⟨10.1126/sciimmunol.abl4340⟩
Science immunology, 6(62):eabl4340. American Association for the Advancement of Science
Dipòsit Digital de la UB
Universidad de Barcelona
Science Immunology, American Association for the Advancement of Science, 2021, 6 (62), ⟨10.1126/sciimmunol.abl4340⟩
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Bastard, P, Gervais, A, Le Voyer, T, Rosain, J, Philippot, Q, Manry, J, Michailidis, E, Hoffmann, H H, Eto, S, Garcia-Prat, M, Bizien, L, Parra-Martínez, A, Yang, R, Haljasmägi, L, Migaud, M, Särekannu, K, Maslovskaja, J, Prost, N D, Tandjaoui-Lambiotte, Y, Luyt, C E, Amador-Borrero, B, Gaudet, A, Poissy, J, Morel, P, Richard, P, Cognasse, F, Troya, J, Trouillet-Assant, S, Belot, A, Saker, K, Garçon, P, Rivière, J G, Lagier, J C, Gentile, S, Rosen, L B, Shaw, E, Morio, T, Tanaka, J, Dalmau, D, Tharaux, P L, Sene, D, Stepanian, A, Megarbane, B, Triantafyllia, V, Fekkar, A, Heath, J R, Franco, J L, Anaya, J M, Mogensen, T H, Casanova, J L, The Milieu Intérieur Consortium, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank Investigators, COVID Human Genetic Effort, CONSTANCES cohort, 3C-Dijon Study, Cerba HealthCare, Etablissement du Sang study group, HGID Lab, COVID Clinicians, COVID-STORM Clinicians, NIAID Immune Response to COVID Group, NH-COVAIR Study Group, Danish CHGE, Danish Blood Donor Study, St. James’s Hospital SARS CoV2 Interest group, French COVID Cohort Study Group & Imagine COVID Group 2021, ' Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths ', Science Immunology, vol. 6, no. 62, 4340 . https://doi.org/10.1126/sciimmunol.abl4340
Science immunology, vol. 6, no. 62, pp. eabl4340
French COVID Cohort Study Group, NIAID Immune Response to COVID Group, Danish CHGE, COVID Human Genetic Effort, HGID Lab, COVID-STORM Clinicians, NH-COVAIR Study Group, The Danish Blood Donor Study (DBDS), Imagine COVID-Group, The Milieu Intérieur Consortium, Amsterdam UMC Covid-19 Biobank, CONSTANCES cohort, 3C-Dijon Study, Cerba HealthCare, Etablissement du Sang study group, CoV-Contact Cohort, St James's Hospital, SARS CoV2 Interest group & COVID Clinicians 2021, ' Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths ', Science immunology, vol. 6, no. 62, eabl4340 . https://doi.org/10.1126/sciimmunol.abl4340
SCIENCE IMMUNOLOGY
COVID Human Genetic Effort, Imagine COVID-Group, Danish CHGE, CONSTANCES cohort, Etablissement du Sang study group, St James's Hospital, SARS CoV2 Interest group, 3C-Dijon Study, COVID Clinicians, CoV-Contact Cohort, NIAID Immune Response to COVID Group, Cerba HealthCare, French COVID Cohort Study Group, HGID Lab, COVID-STORM Clinicians, NH-COVAIR Study Group, The Danish Blood Donor Study (DBDS), The Milieu Intérieur Consortium & Amsterdam UMC Covid-19 Biobank 2021, ' Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths ', Science immunology, vol. 6, no. 62, eabl4340 . https://doi.org/10.1126/sciimmunol.abl4340, https://doi.org/10.1126/sciimmunol.abl4340
Digital.CSIC. Repositorio Institucional del CSIC
instname
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7 . Periodical
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
저자
by
Phelan, Catherine M
;
Kuchenbaecker, Karoline B
;
Tyrer, Jonathan P
;
Kar, Siddhartha P
;
Lawrenson, Kate
, et al.
소스
Nature Genetics; May 2017, Vol. 49 Issue: 5 p680-691, 12p
Web of Science
Scopus
JCR 저널정보
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7 . Periodical
Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers
저자
by
Walker, Logan C
;
Marquart, Louise
;
Pearson, John F
;
Wiggins, George A R
;
O'Mara, Tracy A
, et al.
소스
European Journal of Human Genetics: EJHG; April 2017, Vol. 25 Issue: 4 p432-438, 7p
Web of Science
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