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11
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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12
Rapidly regulated genes are intron poor
Rapidly regulated genes are intron poor
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Rapidly regulated genes are intron poor

Jeffares, Daniel C ; Penkett, Christopher J ; Bähler, Jürg

Trends in genetics, 2008-08, Vol.24 (8), p.375-378 [Periódico revisado por pares]

Oxford: Elsevier Ltd

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13
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
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Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Downes, Kate ; Megy, Karyn ; Duarte, Daniel ; Vries, Minka ; Gebhart, Johanna ; Hofer, Stefanie ; Shamardina, Olga ; Deevi, Sri V.V. ; Stephens, Jonathan ; Mapeta, Rutendo ; Tuna, Salih ; Al Hasso, Namir ; Besser, Martin W. ; Cooper, Nichola ; Daugherty, Louise ; Gleadall, Nick ; Greene, Daniel ; Haimel, Matthias ; Martin, Howard ; Papadia, Sofia ; Revel-Vilk, Shoshana ; Sivapalaratnam, Suthesh ; Symington, Emily ; Thomas, Will ; Thys, Chantal ; Tolios, Alexander ; Penkett, Christopher J. ; Ouwehand, Willem H. ; Abbs, Stephen ; Laffan, Michael A. ; Turro, Ernest ; Simeoni, Ilenia ; Mumford, Andrew D. ; Henskens, Yvonne M.C. ; Pabinger, Ingrid ; Gomez, Keith ; Freson, Kathleen

Blood, 2019-12, Vol.134 (23), p.2082-2091 [Periódico revisado por pares]

United States: Elsevier Inc

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14
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

French, Courtney E. ; Delon, Isabelle ; Dolling, Helen ; Sanchis-Juan, Alba ; Shamardina, Olga ; Mégy, Karyn ; Abbs, Stephen ; Austin, Topun ; Bowdin, Sarah ; Branco, Ricardo G. ; Firth, Helen ; Rowitch, David H. ; Raymond, F. Lucy

Intensive care medicine, 2019-05, Vol.45 (5), p.627-636 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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15
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia
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Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

Shovlin, Claire L. ; Simeoni, Ilenia ; Downes, Kate ; Frazer, Zoe C. ; Megy, Karyn ; Bernabeu-Herrero, Maria E. ; Shurr, Abigail ; Brimley, Jennifer ; Patel, Dilipkumar ; Kell, Loren ; Stephens, Jonathan ; Turbin, Isobel G. ; Aldred, Micheala A. ; Penkett, Christopher J. ; Ouwehand, Willem H. ; Jovine, Luca ; Turro, Ernest

Blood, 2020-10, Vol.136 (17), p.1907-1918 [Periódico revisado por pares]

United States: Elsevier Inc

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16
Opinion: The germicidal effect of ambient air (open-air factor) revisited
Opinion: The germicidal effect of ambient air (open-air factor) revisited
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Opinion: The germicidal effect of ambient air (open-air factor) revisited

Cox, R. Anthony ; Ammann, Markus ; Crowley, John N ; Griffiths, Paul T ; Herrmann, Hartmut ; Hoffmann, Erik H ; Jenkin, Michael E ; McNeill, V. Faye ; Mellouki, Abdelwahid ; Penkett, Christopher J ; Tilgner, Andreas ; Wallington, Timothy J

Atmospheric chemistry and physics, 2021-09, Vol.21 (17), p.13011-13018 [Periódico revisado por pares]

Katlenburg-Lindau: Copernicus GmbH

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17
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes
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Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes

Ormondroyd, Elizabeth ; Harper, Andrew R ; Thomson, Kate L ; Mackley, Michael P ; Martin, Jennifer ; Penkett, Christopher J ; Salatino, Silvia ; Stark, Hannah ; Stephens, Jonathan ; Watkins, Hugh

European journal of human genetics : EJHG, 2020-11, Vol.28 (11), p.1486-1496 [Periódico revisado por pares]

England: Nature Publishing Group

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18
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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19
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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20
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
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A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

Turro, Ernest ; Greene, Daniel ; Wijgaerts, Anouck ; Thys, Chantal ; Lentaigne, Claire ; Bariana, Tadbir K ; Westbury, Sarah K ; Kelly, Anne M ; Selleslag, Dominik ; Stephens, Jonathan C ; Papadia, Sofia ; Simeoni, Ilenia ; Penkett, Christopher J ; Ashford, Sofie ; Attwood, Antony ; Austin, Steve ; Bakchoul, Tamam ; Collins, Peter ; Deevi, Sri V V ; Favier, Rémi ; Kostadima, Myrto ; Lambert, Michele P ; Mathias, Mary ; Millar, Carolyn M ; Peerlinck, Kathelijne ; Perry, David J ; Schulman, Sol ; Whitehorn, Deborah ; Wittevrongel, Christine ; De Maeyer, Marc ; Rendon, Augusto ; Gomez, Keith ; Erber, Wendy N ; Mumford, Andrew D ; Nurden, Paquita ; Stirrups, Kathleen ; Bradley, John R ; Raymond, F Lucy ; Laffan, Michael A ; Van Geet, Chris ; Richardson, Sylvia ; Freson, Kathleen ; Ouwehand, Willem H

Science translational medicine, 2016-03, Vol.8 (328), p.328ra30-328ra30 [Periódico revisado por pares]

United States

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