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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

Sanchis-Juan, Alba ; Megy, Karyn ; Stephens, Jonathan ; Armirola Ricaurte, Camila ; Dewhurst, Eleanor ; Low, Kayyi ; French, Courtney E. ; Grozeva, Detelina ; Stirrups, Kathleen ; Erwood, Marie ; McTague, Amy ; Penkett, Christopher J. ; Shamardina, Olga ; Tuna, Salih ; Daugherty, Louise C. ; Gleadall, Nicholas ; Duarte, Sofia T. ; Hedrera-Fernández, Antonio ; Vogt, Julie ; Ambegaonkar, Gautam ; Chitre, Manali ; Josifova, Dragana ; Kurian, Manju A. ; Parker, Alasdair ; Rankin, Julia ; Reid, Evan ; Wakeling, Emma ; Wassmer, Evangeline ; Woods, C. Geoffrey ; Raymond, F. Lucy ; Carss, Keren J.

American journal of human genetics, 2023-08, Vol.110 (8), p.1343-1355 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Practical challenges for functional validation of STAT1 gain of function genetic variants
Practical challenges for functional validation of STAT1 gain of function genetic variants
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Practical challenges for functional validation of STAT1 gain of function genetic variants

Albuquerque, Adriana S ; Maimaris, Jesmeen ; McKenna, Alexander J ; Lambourne, Jonathan ; Moreira, Fernando ; Workman, Sarita ; Megy, Karyn ; Simeoni, Ilenia ; Lango Allen, Hana ; Morris, Emma C ; Burns, Siobhan O

Clinical and experimental immunology, 2023-04, Vol.212 (2), p.166-169 [Periódico revisado por pares]

US: Oxford University Press

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3
Complement lectin pathway activation is associated with COVID-19 disease severity, independent of MBL2 genotype subgroups
Complement lectin pathway activation is associated with COVID-19 disease severity, independent of MBL2 genotype subgroups
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Complement lectin pathway activation is associated with COVID-19 disease severity, independent of MBL2 genotype subgroups

Hurler, Lisa ; Szilágyi, Ágnes ; Mescia, Federica ; Bergamaschi, Laura ; Mező, Blanka ; Sinkovits, György ; Réti, Marienn ; Müller, Veronika ; Iványi, Zsolt ; Gál, János ; Gopcsa, László ; Reményi, Péter ; Szathmáry, Beáta ; Lakatos, Botond ; Szlávik, János ; Bobek, Ilona ; Prohászka, Zita Z ; Förhécz, Zsolt ; Csuka, Dorottya ; Kajdácsi, Erika ; Cervenak, László ; Kiszel, Petra ; Masszi, Tamás ; Vályi-Nagy, István ; Würzner, Reinhard ; Lyons, Paul A ; Toonen, Erik J M ; Prohászka, Zoltán

Frontiers in immunology, 2023-03, Vol.14, p.1162171-1162171 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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4
Human Cytomegalovirus Infection of Epithelial Cells Increases SARS-CoV-2 Superinfection by Upregulating the ACE2 Receptor
Human Cytomegalovirus Infection of Epithelial Cells Increases SARS-CoV-2 Superinfection by Upregulating the ACE2 Receptor
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Human Cytomegalovirus Infection of Epithelial Cells Increases SARS-CoV-2 Superinfection by Upregulating the ACE2 Receptor

Perera, Marianne R ; Greenwood, Edward J D ; Crozier, Thomas W M ; Elder, Elizabeth G ; Schmitt, Janika ; Crump, Colin M ; Lehner, Paul J ; Wills, Mark R ; Sinclair, John H

The Journal of infectious diseases, 2023-02, Vol.227 (4), p.543-553 [Periódico revisado por pares]

United States: Oxford University Press

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5
Distinction of early complement classical and lectin pathway activation via quantification of C1s/C1-INH and MASP-1/C1-INH complexes using novel ELISAs
Distinction of early complement classical and lectin pathway activation via quantification of C1s/C1-INH and MASP-1/C1-INH complexes using novel ELISAs
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Distinction of early complement classical and lectin pathway activation via quantification of C1s/C1-INH and MASP-1/C1-INH complexes using novel ELISAs

Hurler, Lisa ; Toonen, Erik J. M. ; Kajdácsi, Erika ; van Bree, Bregje ; Brandwijk, Ricardo J. M. G. E. ; de Bruin, Wieke ; Lyons, Paul A. ; Bergamaschi, Laura ; Sinkovits, György ; Cervenak, László ; Würzner, Reinhard ; Prohászka, Zoltán

Frontiers in immunology, 2022-11, Vol.13, p.1039765-1039765 [Periódico revisado por pares]

Frontiers Media S.A

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6
Levels of soluble complement regulators predict severity of COVID-19 symptoms
Levels of soluble complement regulators predict severity of COVID-19 symptoms
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Levels of soluble complement regulators predict severity of COVID-19 symptoms

Tierney, Anna L ; Alali, Wajd Mohammed ; Scott, Thomas ; Rees-Unwin, Karen S ; Clark, Simon J ; Unwin, Richard D

Frontiers in immunology, 2022-10, Vol.13, p.1032331-1032331 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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7
SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within Diverse Ethnic Backgrounds
SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within Diverse Ethnic Backgrounds
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SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within Diverse Ethnic Backgrounds

Vadgama, Nirmal ; Kreymerman, Alexander ; Campbell, Jackie ; Shamardina, Olga ; Brugger, Christiane ; Research Consortium, Genomics England ; Deaconescu, Alexandra M ; Lee, Richard T ; Penkett, Christopher J ; Gifford, Casey A ; Mercola, Mark ; Nasir, Jamal ; Karakikes, Ioannis

Frontiers in genetics, 2022-04, Vol.13, p.888025-888025 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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8
CRLF3 plays a key role in the final stage of platelet genesis and is a potential therapeutic target for thrombocythemia
CRLF3 plays a key role in the final stage of platelet genesis and is a potential therapeutic target for thrombocythemia
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CRLF3 plays a key role in the final stage of platelet genesis and is a potential therapeutic target for thrombocythemia

Bennett, Cavan ; Lawrence, Moyra ; Guerrero, Jose A ; Stritt, Simon ; Waller, Amie K ; Yan, Yahui ; Mifsud, Richard W ; Ballester-Beltrán, Jose ; Baig, Ayesha ; Mueller, Annett ; Mayer, Louisa ; Warland, James ; Penkett, Christopher J ; Akbari, Parsa ; Moreau, Thomas ; Evans, Amanda L ; Mookerjee, Souradip ; Hoffman, Gary J ; Saeb-Parsy, Kourosh ; Adams, David J ; Couzens, Amber L ; Bender, Markus ; Erber, Wendy N ; Nieswandt, Bernhard ; Read, Randy J ; Ghevaert, Cedric

http://dx.doi.org/10.1182/blood.2021013113 2022-04

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9
CRLF3 plays a key role in the final stage of platelet genesis and is a potential therapeutic target for thrombocythemia
CRLF3 plays a key role in the final stage of platelet genesis and is a potential therapeutic target for thrombocythemia
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CRLF3 plays a key role in the final stage of platelet genesis and is a potential therapeutic target for thrombocythemia

Bennett, Cavan ; Lawrence, Moyra ; Guerrero, Jose A. ; Stritt, Simon ; Waller, Amie K. ; Yan, Yahui ; Mifsud, Richard W. ; Ballester-Beltrán, Jose ; Baig, Ayesha ; Mueller, Annett ; Mayer, Louisa ; Warland, James ; Penkett, Christopher J. ; Akbari, Parsa ; Moreau, Thomas ; Evans, Amanda L. ; Mookerjee, Souradip ; Hoffman, Gary J. ; Saeb-Parsy, Kourosh ; Adams, David J. ; Couzens, Amber L. ; Bender, Markus ; Erber, Wendy N. ; Nieswandt, Bernhard ; Read, Randy J. ; Ghevaert, Cedric

Blood, 2022-04, Vol.139 (14), p.2227-2239 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts infectivity and fusogenicity
Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts infectivity and fusogenicity
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Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts infectivity and fusogenicity

Meng, Bo ; Abdullahi, Adam ; Ferreira, Isabella A T M ; Goonawardane, Niluka ; Saito, Akatsuki ; Kimura, Izumi ; Yamasoba, Daichi ; Gerber, Pehuén Pereyra ; Fatihi, Saman ; Rathore, Surabhi ; Zepeda, Samantha K ; Papa, Guido ; Kemp, Steven A ; Ikeda, Terumasa ; Toyoda, Mako ; Tan, Toong Seng ; Kuramochi, Jin ; Mitsunaga, Shigeki ; Ueno, Takamasa ; Shirakawa, Kotaro ; Takaori-Kondo, Akifumi ; Brevini, Teresa ; Mallery, Donna L ; Charles, Oscar J ; Bowen, John E ; Joshi, Anshu ; Walls, Alexandra C ; Jackson, Laurelle ; Martin, Darren ; Smith, Kenneth G C ; Bradley, John ; Briggs, John A G ; Choi, Jinwook ; Madissoon, Elo ; Meyer, Kerstin B ; Mlcochova, Petra ; Ceron-Gutierrez, Lourdes ; Doffinger, Rainer ; Teichmann, Sarah A ; Fisher, Andrew J ; Pizzuto, Matteo S ; de Marco, Anna ; Corti, Davide ; Hosmillo, Myra ; Lee, Joo Hyeon ; James, Leo C ; Thukral, Lipi ; Veesler, David ; Sigal, Alex ; Sampaziotis, Fotios ; Goodfellow, Ian G ; Matheson, Nicholas J ; Sato, Kei ; Gupta, Ravindra K

Nature (London), 2022-03, Vol.603 (7902), p.706-714 [Periódico revisado por pares]

England: Nature Publishing Group

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