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Refinado por: assunto: Female remover assunto: Humans remover
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1
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
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Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

ALBERS, Cornelis A ; PAUL, Dirk S ; BREUNING, Martijn H ; DEBILI, Najet ; DELOUKAS, Panos ; FAVIER, Rémi ; FIEDLER, Janine ; HOBBS, Catherine M ; NI HUANG ; HURLES, Matthew E ; KIDDLE, Graham ; KRAPELS, Ingrid ; SCHULZE, Harald ; NURDEN, Paquita ; RUIVENKAMP, Claudia A. L ; SAMBROOK, Jennifer G ; SMITH, Kenneth ; STEMPLE, Derek L ; STRAUSS, Gabriele ; THYS, Chantal ; GEET, Chrisvan ; NEWBURY-ECOB, Ruth ; OUWEHAND, Willemh ; FRESON, Kathleen ; GHEVAERT, Cedric ; STEPHENS, Jonathan C ; SMETHURST, Peter A ; JOLLEY, Jennifer D ; CVEJIC, Ana ; KOSTADIMA, Myrto ; BERTONE, Paul

Nature genetics, 2012-04, Vol.44 (4), p.435-439 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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2
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
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Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Lentaigne, Claire ; Greene, Daniel ; Sivapalaratnam, Suthesh ; Favier, Remi ; Seyres, Denis ; Thys, Chantal ; Grassi, Luigi ; Mangles, Sarah ; Sibson, Keith ; Stubbs, Matthew ; Burden, Frances ; Bordet, Jean-Claude ; Armari-Alla, Corinne ; Erber, Wendy ; Farrow, Samantha ; Gleadall, Nicholas ; Gomez, Keith ; Megy, Karyn ; Papadia, Sofia ; Penkett, Christopher J. ; Sims, Matthew C. ; Stefanucci, Luca ; Stephens, Jonathan C. ; Read, Randy J. ; Stirrups, Kathleen E. ; Ouwehand, Willem H. ; Laffan, Michael A. ; Frontini, Mattia ; Freson, Kathleen ; Turro, Ernest

Blood, 2019-12, Vol.134 (23), p.2070-2081 [Periódico revisado por pares]

United States: Elsevier Inc

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3
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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4
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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5
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Sanchis-Juan, Alba ; Stephens, Jonathan ; French, Courtney E ; Gleadall, Nicholas ; Mégy, Karyn ; Penkett, Christopher ; Shamardina, Olga ; Stirrups, Kathleen ; Delon, Isabelle ; Dewhurst, Eleanor ; Dolling, Helen ; Erwood, Marie ; Grozeva, Detelina ; Stefanucci, Luca ; Arno, Gavin ; Webster, Andrew R ; Cole, Trevor ; Austin, Topun ; Branco, Ricardo Garcia ; Ouwehand, Willem H ; Raymond, F Lucy ; Carss, Keren J

Genome medicine, 2018-12, Vol.10 (1), p.95-95, Article 95 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
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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7
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 [Periódico revisado por pares]

United States: Wiley Periodicals Inc

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8
SMIM1 underlies the Vel blood group and influences red blood cell traits
SMIM1 underlies the Vel blood group and influences red blood cell traits
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SMIM1 underlies the Vel blood group and influences red blood cell traits

Cvejic, Ana ; Haer-Wigman, Lonneke ; Stephens, Jonathan C ; Kostadima, Myrto ; Smethurst, Peter A ; Frontini, Mattia ; van den Akker, Emile ; Bertone, Paul ; Bielczyk-Maczyńska, Ewa ; Farrow, Samantha ; Fehrmann, Rudolf Sn ; Gray, Alan ; de Haas, Masja ; Haver, Vincent G ; Jordan, Gregory ; Karjalainen, Juha ; Kerstens, Hindrik Hd ; Kiddle, Graham ; Lloyd-Jones, Heather ; Needs, Malcolm ; Poole, Joyce ; Soussan, Aicha Ait ; Rendon, Augusto ; Rieneck, Klaus ; Sambrook, Jennifer G ; Schepers, Hein ; Silljé, Herman H W ; Sipos, Botond ; Swinkels, Dorine ; Tamuri, Asif U ; Verweij, Niek ; Watkins, Nicholas A ; Westra, Harm-Jan ; Stemple, Derek ; Franke, Lude ; Soranzo, Nicole ; Stunnenberg, Hendrik G ; Goldman, Nick ; van der Harst, Pim ; van der Schoot, C Ellen ; Ouwehand, Willem H ; Albers, Cornelis A

Nature genetics, 2013-05, Vol.45 (5), p.542-545 [Periódico revisado por pares]

United States: Nature Publishing Group

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9
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Simeoni, Ilenia ; Stephens, Jonathan C. ; Hu, Fengyuan ; Deevi, Sri V.V. ; Megy, Karyn ; Bariana, Tadbir K. ; Lentaigne, Claire ; Schulman, Sol ; Sivapalaratnam, Suthesh ; Vries, Minka J.A. ; Westbury, Sarah K. ; Greene, Daniel ; Papadia, Sofia ; Alessi, Marie-Christine ; Attwood, Antony P. ; Ballmaier, Matthias ; Baynam, Gareth ; Bermejo, Emilse ; Bertoli, Marta ; Bray, Paul F. ; Bury, Loredana ; Cattaneo, Marco ; Collins, Peter ; Daugherty, Louise C. ; Favier, Rémi ; French, Deborah L. ; Furie, Bruce ; Gattens, Michael ; Germeshausen, Manuela ; Ghevaert, Cedric ; Goodeve, Anne C. ; Guerrero, Jose A. ; Hampshire, Daniel J. ; Hart, Daniel P. ; Heemskerk, Johan W.M. ; Henskens, Yvonne M.C. ; Hill, Marian ; Hogg, Nancy ; Jolley, Jennifer D. ; Kahr, Walter H. ; Kelly, Anne M. ; Kerr, Ron ; Kostadima, Myrto ; Kunishima, Shinji ; Lambert, Michele P. ; Liesner, Ri ; López, José A. ; Mapeta, Rutendo P. ; Mathias, Mary ; Millar, Carolyn M. ; Nathwani, Amit ; Neerman-Arbez, Marguerite ; Nurden, Alan T. ; Nurden, Paquita ; Othman, Maha ; Peerlinck, Kathelijne ; Perry, David J. ; Poudel, Pawan ; Reitsma, Pieter ; Rondina, Matthew T. ; Smethurst, Peter A. ; Stevenson, William ; Szkotak, Artur ; Tuna, Salih ; van Geet, Christel ; Whitehorn, Deborah ; Wilcox, David A. ; Zhang, Bin ; Revel-Vilk, Shoshana ; Gresele, Paolo ; Bellissimo, Daniel B. ; Penkett, Christopher J. ; Laffan, Michael A. ; Mumford, Andrew D. ; Rendon, Augusto ; Gomez, Keith ; Freson, Kathleen ; Ouwehand, Willem H. ; Turro, Ernest

Blood, 2016-06, Vol.127 (23), p.2791-2803 [Periódico revisado por pares]

United States: Elsevier Inc

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10
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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