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A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
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A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Stritt, Simon ; Nurden, Paquita ; Turro, Ernest ; Greene, Daniel ; Jansen, Sjoert B. ; Westbury, Sarah K. ; Petersen, Romina ; Astle, William J. ; Marlin, Sandrine ; Bariana, Tadbir K. ; Kostadima, Myrto ; Lentaigne, Claire ; Maiwald, Stephanie ; Papadia, Sofia ; Kelly, Anne M. ; Stephens, Jonathan C. ; Penkett, Christopher J. ; Ashford, Sofie ; Tuna, Salih ; Austin, Steve ; Bakchoul, Tamam ; Collins, Peter ; Favier, Rémi ; Lambert, Michele P. ; Mathias, Mary ; Millar, Carolyn M. ; Mapeta, Rutendo ; Perry, David J. ; Schulman, Sol ; Simeoni, Ilenia ; Thys, Chantal ; Gomez, Keith ; Erber, Wendy N. ; Stirrups, Kathleen ; Rendon, Augusto ; Bradley, John R. ; van Geet, Chris ; Raymond, F.Lucy ; Laffan, Michael A. ; Nurden, Alan T. ; Nieswandt, Bernhard ; Richardson, Sylvia ; Freson, Kathleen ; Ouwehand, Willem H. ; Mumford, Andrew D.

Blood, 2016-06, Vol.127 (23), p.2903-2914 [Peer Reviewed Journal]

United States: Elsevier Inc

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2
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 [Peer Reviewed Journal]

England: Nature Publishing Group

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3
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
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Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Lorenzini, Tiziana ; Fliegauf, Manfred ; Klammer, Nils ; Proietti, Michele ; Bulashevska, Alla ; Schejter, Yael D. ; Atschekzei, Faranaz ; Stepensky, Polina ; Pedroza, Luis A. ; van der Flier, Michiel ; Martínez-Gallo, Mónica ; Svec, Peter ; Fischer, Ute ; Ip, Winnie ; Geha, Raif ; Chou, Janet ; Alosaimi, Mohammed ; Weintraub, Lauren ; Dos Santos Vilela, Maria Marluce ; Holzinger, Dirk ; Seidl, Maximilian ; Lougaris, Vassilios ; Plebani, Alessandro ; Abolhassani, Hassan ; Thaventhiran, James E. ; Warnatz, Klaus ; Grimbacher, Bodo ; Ashford, Sofie ; Bacchelli, Chiara ; Batista, Joana ; Bibi, Shahnaz ; Boardman, Barbara ; Booth, Claire ; Breen, Gerome ; Burns, Siobhan O. ; Burren, Oliver S. ; Carss, Keren ; Chambers, John ; Cooper, Nichola ; Davies, E.G. ; Dempster, John ; Dewhurst, Eleanor F. ; Drewe, Elizabeth ; Duarte, Daniel ; Edgar, J. David M. ; Egner, William ; El-Shanawany, Tariq ; Erwood, Marie ; Fox, James ; Frontini, Mattia ; Furnell, Abigail ; Gaspar, H. Bobby ; Gleadall, Nicholas S. ; Grigoriadou, Sofia ; Hackett, Scott ; Hague, Rosie ; Haimel, Matthias ; Hayman, Grant ; Hu, Fengyuan ; Huissoon, Aarnoud P. ; Jolles, Stephen ; Kasanicki, Mary A. ; Kelleher, Peter ; Klein, Nigel ; Kreuzhuber, Roman ; Kuijpers, Taco W. ; Kumararatne, Dinakantha ; Allen, Hana Lango ; Linger, Rachel ; Lorenzo, Lorena E. ; Maimaris, Jesmeen ; Martin, Jennifer ; McDermott, Elizabeth M. ; Meacham, Stuart ; Morrisson, Valerie ; Nasir, Iman ; Nejentsev, Sergey ; Papadia, Sofia ; Ponsford, Mark J. ; Quinn, Ellen ; Quinti, Isabella ; Rayner-Matthews, Paula J. ; Samani, Nilesh ; Sanchis-Juan, Alba ; Savic, Sinisa ; Simpson, Michael A. ; Smith, Kenneth G.C. ; Thaventhiran, James E. ; Tilly, Tobias ; Titterton, Catherine ; Tuna, Salih ; Urniaz, Rafal ; von Ziegenweidt, Julie ; Watt, Christopher ; Welch, Steven B. ; Whitehorn, Deborah ; Wood, Yvette ; Workman, Sarita ; Worth, Austen ; Young, Timothy

Journal of allergy and clinical immunology, 2020-10, Vol.146 (4), p.901-911 [Peer Reviewed Journal]

United States: Elsevier Inc

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4
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
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Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Hadinnapola, Charaka ; Bleda, Marta ; Haimel, Matthias ; Screaton, Nicholas ; Swift, Andrew ; Dorfmüller, Peter ; Preston, Stephen D ; Southwood, Mark ; Hernandez-Sanchez, Jules ; Martin, Jennifer ; Treacy, Carmen ; Yates, Katherine ; Bogaard, Harm ; Church, Colin ; Coghlan, Gerry ; Condliffe, Robin ; Corris, Paul A ; Gibbs, Simon ; Girerd, Barbara ; Holden, Simon ; Humbert, Marc ; Kiely, David G ; Lawrie, Allan ; Machado, Rajiv ; MacKenzie Ross, Robert ; Moledina, Shahin ; Montani, David ; Newnham, Michael ; Peacock, Andrew ; Pepke-Zaba, Joanna ; Rayner-Matthews, Paula ; Shamardina, Olga ; Soubrier, Florent ; Southgate, Laura ; Suntharalingam, Jay ; Toshner, Mark ; Trembath, Richard ; Vonk Noordegraaf, Anton ; Wilkins, Martin R ; Wort, Stephen J ; Wharton, John ; Gräf, Stefan ; Morrell, Nicholas W

Circulation (New York, N.Y.), 2017-11, Vol.136 (21), p.2022-2033 [Peer Reviewed Journal]

United States: American Heart Association

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5
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH
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Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Zhu, Na ; Swietlik, Emilia M ; Welch, Carrie L ; Pauciulo, Michael W ; Hagen, Jacob J ; Zhou, Xueya ; Guo, Yicheng ; Karten, Johannes ; Pandya, Divya ; Tilly, Tobias ; Lutz, Katie A ; Martin, Jennifer M ; Treacy, Carmen M ; Rosenzweig, Erika B ; Krishnan, Usha ; Coleman, Anna W ; Gonzaga-Jauregui, Claudia ; Lawrie, Allan ; Trembath, Richard C ; Wilkins, Martin R ; Morrell, Nicholas W ; Shen, Yufeng ; Gräf, Stefan ; Nichols, William C ; Chung, Wendy K

Genome medicine, 2021-05, Vol.13 (1), p.80-18, Article 80 [Peer Reviewed Journal]

England: BioMed Central Ltd

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6
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

West, Hannah ; Carss, Keren ; Shakeel, Hassan ; Adlard, Julian ; Cole, Trevor ; Kwong, Ava ; Paterson, Joan ; Searle, Claire ; Skytte, Anne-Bine ; Aitman, Timothy ; Ambegaonkar, Gautum ; Antrobus, Richard ; Arno, Gavin ; Astle, William ; Attwood, Antony ; Austin, Steve ; Bakchoul, Tamam ; Bennett, David ; Bitner-Glindzicz, Maria ; Bleda, Marta ; Bolton-Maggs, Paula ; Booth, Claire ; Clements-Brod, Naomi ; Clowes, Virginia ; Collins, Peter ; Cookson, Victoria ; Creaser-Myers, Amanda ; DaCosta, Rosa ; Davies, Sophie ; Deegan, Patrick ; Dewhurst, Eleanor ; Doffinger, Rainer ; Drewe, Elizabeth ; Favier, Remi ; Firth, Helen ; Furie, Bruce ; Furnell, Abigail ; Gardham, Alice ; Gissen, Paul ; Gomez, Keith ; Graf, Stefan ; Gräf, Stefan ; Greenhalgh, Alan ; Hackett, Scott ; Haimel, Matthias ; Herwadkar, Archana ; Holder, Muriel ; Huissoon, Aarnoud ; James, Roger ; Kennedy, Fiona ; Kingston, Nathalie ; Kuijpers, Taco ; Lawrie, Allan ; Lentaigne, Claire ; Machado, Rajiv ; Maher, Eamonn ; Mangles, Sarah ; Manson, Ania ; Matser, Vera ; McDermott, Elizabeth ; Megy, Karyn ; Millar, Carolyn M. ; Morrell, Nicholas ; Ouwehand, Willem H. ; Papadia, Sofia ; Payne, Jeanette ; Peacock, Andrew ; Pollock, Val ; Quinti, Isabella ; Rayner-Matthews, Paula ; Rehnstrom, Karola ; Rhodes, Christopher J. ; Richardson, Sylvia ; Richter, Alex ; Rondina, Matthew ; Rosser, Elisabeth ; Rue-Albrecht, Kevin ; Sargur, Ravishankar ; Savic, Sinisa ; Schotte, Gwen ; Schulze, Harald ; Seneviratne, Suranjith ; Shamardina, Olga ; Simeoni, Ilenia ; Staines, Simon ; Stark, Hannah ; Stock, Sophie ; Thaventhiran, James ; Thompson, Dorothy ; Toh, Cheng-Hock ; Turek, Wojciech ; Wassmer, Evangeline ; Watt, Christopher ; Wharton, John ; Williamson, Catherine ; Woods, Geoff ; Wort, John ; Yeatman, Nigel ; Tischkowitz, Marc D. ; Maher, Eamonn R.

American journal of human genetics, 2018-07, Vol.103 (1), p.3-18 [Peer Reviewed Journal]

United States: Elsevier Inc

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7
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Arno, Gavin ; Zihni, Ceniz ; Robson, Anthony G. ; Fiorentino, Alessia ; Black, Graeme ; Ponitkos, Nikos ; Holder, Graham E. ; Aitman, Timothy ; Alachkar, Hana ; Allsup, David ; Anderson, Julie ; Armstrong, Ruth ; Arumugakani, Gururaj ; Ashford, Sofie ; Bakchoul, Tamam ; Bariana, Tadbir K. ; Bibi, Shahnaz ; Bitner-Glindzicz, Maria ; Bolton-Maggs, Paula ; Brady, Angie ; Brown, Matthew ; Caulfield, Mark ; Chitre, Manali ; Clowes, Virginia ; Coghlan, Gerry ; Collins, Peter ; Creaser-Myers, Amanda ; DaCosta, Rosa ; Davies, Sophie ; Deegan, Patrick ; Deshpande, Charu ; Doffinger, Rainer ; Egner, William ; Erwood, Marie ; Favier, Remi ; Flinter, Frances ; Furie, Bruce ; Furnell, Abigail ; Gardham, Alice ; Gattens, Michael ; Ghataorhe, Pavandeep K. ; Gibbs, Simon ; Gilmour, Kimberley ; Gissen, Paul ; Goddard, Sarah ; Gordins, Pavel ; Greinacher, Andreas ; Grigoriadou, Sofia ; Hayman, Grant ; Henderson, Robert ; Henskens, Yvonne ; Holden, Simon ; Hu, Fengyuan ; Jolles, Stephen ; Josifova, Dragana ; Keeling, David ; Kelleher, Peter ; Kelly, Anne M. ; Kuijpers, Taco W. ; Kumararatne, Dinakantha ; Kurian, Manju ; Laffan, Michael A. ; Linger, Rachel ; Machado, Rajiv ; Manson, Ania ; Markus, Hugh S. ; Meehan, Sharon ; Ouwehand, Willem H. ; Park, Soo-Mi ; Parker, Alasdair ; Paterson, Joan ; Peerlinck, Kathelijne ; Perry, David J. ; Qasim, Waseem ; Rankin, Julia ; Rehnstrom, Karola ; Roberts, Irene ; Roughley, Catherine ; Rue-Albrecht, Kevin ; Schulze, Harald ; Shamardina, Olga ; Shipley, Debbie ; Simeoni, Ilenia ; Stephens, Jonathan ; Suntharalingam, Jay ; Thachil, Jecko ; Thaventhiran, James ; Thomas, Ellen ; Titterton, Catherine ; Toh, Cheng-Hock ; Turek, Wojciech ; Turro, Ernest ; Van Geet, Chris ; Wakeling, Emma ; Warner, Timothy Q. ; Webster, Andrew ; Wilkins, Martin ; Young, Tim ; Yu, Ping ; Webster, Andrew R.

American journal of human genetics, 2017-02, Vol.100 (2), p.334-342 [Peer Reviewed Journal]

United States: Elsevier Inc

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8
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

Eur J Hum Genet 2020-11

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9
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Tuijnenburg, Paul ; Jansen, Machiel H. ; Carss, Keren J. ; Baxendale, Helen ; Chandra, Anita ; Seneviratne, Suranjith L. ; Oksenhendler, Eric ; Tool, Anton T.J. ; Whitehorn, Deborah ; Turro, Ernest ; Thaventhiran, James E. ; Kuijpers, Taco W. ; Adhya, Zoe ; Anantharachagan, Ariharan ; Arumugakani, Gururaj ; Bacchelli, Chiara ; Baxendale, Helen ; Bibi, Shahnaz ; Booth, Claire ; Browning, Michael ; Burns, Siobhan ; Clifford, Hayley ; Cooper, Nichola ; Davies, Sophie ; Devlin, Lisa ; Edgar, David ; Egner, William ; Ghurye, Rohit ; Gilmour, Kimberley ; Goddard, Sarah ; Gordins, Pavel ; Hackett, Scott ; Hague, Rosie ; Hayman, Grant ; Jolles, Stephen ; Jones, Julie ; Kelleher, Peter ; Klein, Nigel ; Kuijpers, Taco ; Kumararatne, Dinakantha ; Laffan, James ; Lango Allen, Hana ; Lear, Sara ; Longhurst, Hilary ; Maimaris, Jesmeen ; McDermott, Elizabeth ; Morrisson, Valerie ; Nasir, Iman ; Noorani, Sadia ; Oksenhendler, Eric ; Ponsford, Mark ; Qasim, Waseem ; Quinn, Ellen ; Quinti, Isabella ; Samarghitean, Crina ; Savic, Sinisa ; Seneviratne, Suranjith ; Simeoni, Ilenia ; Staples, Emily ; Steele, Cathal ; Thaventhiran, James ; Thomas, Moira ; Thrasher, Adrian ; Worth, Austen ; Yong, Patrick ; Bradley, John ; Hammerton, Tracey ; Ouwehand, Willem ; Raymond, F Lucy ; Veltman, Marijke ; Clements-Brod, Naomi ; Davis, John ; Dewhurst, Eleanor ; Erwood, Marie ; Frary, Amy ; Linger, Rachel ; Papadia, Sofia ; Rehnstrom, Karola ; Astle, William ; Attwood, Antony ; Bleda, Marta ; Carss, Keren ; Daugherty, Louise ; Deevi, Sri ; Graf, Stefan ; Greene, Daniel ; Halmagyi, Csaba ; Matser, Vera ; Meacham, Stuart ; Megy, Karyn ; Shamardina, Olga ; Titterton, Catherine ; Tuna, Salih ; Turro, Ernest ; von Ziegenweldt, Julie ; Furnell, Abigail ; Staines, Simon ; Stephens, Jonathan ; Whitehorn, Deborah ; Watt, Christopher

Journal of allergy and clinical immunology, 2018-10, Vol.142 (4), p.1285-1296 [Peer Reviewed Journal]

United States: Elsevier Inc

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10
Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants
Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants
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Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants

Bury, Loredana ; Megy, Karyn ; Stephens, Jonathan C. ; Grassi, Luigi ; Greene, Daniel ; Gleadall, Nick ; Althaus, Karina ; Allsup, David ; Bariana, Tadbir K. ; Bonduel, Mariana ; Butta, Nora V. ; Collins, Peter ; Curry, Nicola ; Deevi, Sri V. V. ; Downes, Kate ; Duarte, Daniel ; Elliott, Kim ; Falcinelli, Emanuela ; Furie, Bruce ; Keeling, David ; Lambert, Michele P. ; Linger, Rachel ; Mangles, Sarah ; Mapeta, Rutendo ; Millar, Carolyn M. ; Penkett, Christopher ; Perry, David J. ; Stirrups, Kathleen E. ; Turro, Ernest ; Westbury, Sarah K. ; Wu, John ; BioResource, NIHR ; Gomez, Keith ; Freson, Kathleen ; Ouwehand, Willem H. ; Gresele, Paolo ; Simeoni, Ilenia

Human mutation, 2020-01, Vol.41 (1), p.277-290 [Peer Reviewed Journal]

United States: Hindawi Limited

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