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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 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans
Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans
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Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans

Ba-Abbad, Rola, MD ; Arno, Gavin, PhD ; Carss, Keren, PhD ; Stirrups, Kathleen, PhD ; Penkett, Christopher J., PhD ; Moore, Anthony T., MD ; Michaelides, Michel, MD ; Raymond, F. Lucy, MA, DPhil ; Webster, Andrew R., MD ; Holder, Graham E., PhD

Ophthalmology (Rochester, Minn.), 2016-03, Vol.123 (3), p.668-671.e2 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia
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Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

Sivapalaratnam, Suthesh ; Westbury, Sarah K. ; Stephens, Jonathan C. ; Greene, Daniel ; Downes, Kate ; Kelly, Anne M. ; Lentaigne, Claire ; Astle, William J. ; Huizinga, Eric G. ; Nurden, Paquita ; Papadia, Sofia ; Peerlinck, Kathelijne ; Penkett, Christopher J. ; Perry, David J. ; Roughley, Catherine ; Simeoni, Ilenia ; Stirrups, Kathleen ; Hart, Daniel P. ; Tait, R.Campbell ; Mumford, Andrew D. ; Laffan, Michael A. ; Freson, Kathleen ; Ouwehand, Willem H. ; Kunishima, Shinji ; Turro, Ernest

Blood, 2017-01, Vol.129 (4), p.520-524 [Periódico revisado por pares]

United States: Elsevier Inc

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4
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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5
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome
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Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome

Heremans, Jessica ; Garcia-Perez, Josselyn E. ; Turro, Ernest ; Schlenner, Susan M. ; Casteels, Ingele ; Collin, Roxanne ; de Zegher, Francis ; Greene, Daniel ; Humblet-Baron, Stephanie ; Lesage, Sylvie ; Matthys, Patrick ; Penkett, Christopher J. ; Put, Karen ; Stirrups, Kathleen ; Thys, Chantal ; Van Geet, Chris ; Van Nieuwenhove, Erika ; Wouters, Carine ; Meyts, Isabelle ; Freson, Kathleen ; Liston, Adrian

Journal of allergy and clinical immunology, 2018-08, Vol.142 (2), p.630-646 [Periódico revisado por pares]

United States: Elsevier Inc

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6
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 [Periódico revisado por pares]

United States: American Heart Association

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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 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome
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Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome

Heremans, Jessica ; Garcia-Perez, Josselyn E ; Turro, Ernest ; Schlenner, Susan M ; Casteels, Ingele ; Collin, Roxanne ; de Zegher, Francis ; Greene, Daniel ; Humblet-Baron, Stephanie ; Lesage, Sylvie ; Matthys, Patrick ; Penkett, Christopher J ; Put, Karen ; Stirrups, Kathleen ; National Institute for Health Research BioResource ; Thys, Chantal ; Van Geet, Chris ; Van Nieuwenhove, Erika ; Wouters, Carine ; Meyts, Isabelle ; Freson, Kathleen ; Liston, Adrian

http://dx.doi.org/10.1016/j.jaci.2017.11.061 2018-08

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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 [Periódico revisado por pares]

United States: Elsevier Inc

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