Carme Camps, Nayia Petousi, Celeste Bento, Holger Cario, Richard R Copley, Mary Frances McMullin, Richard van Wijk, Peter J Ratcliffe, Peter A Robbins, Jenny C Taylor. Haematologica 2016
Times Cited: 50
Times Cited: 50
Times Cited
Times Co-cited
Similarity
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Celeste Bento, Melanie J Percy, Betty Gardie, Tabita Magalhães Maia, Richard van Wijk, Silverio Perrotta, Fulvio Della Ragione, Helena Almeida, Cedric Rossi, François Girodon,[...]. Hum Mutat 2014
Celeste Bento, Melanie J Percy, Betty Gardie, Tabita Magalhães Maia, Richard van Wijk, Silverio Perrotta, Fulvio Della Ragione, Helena Almeida, Cedric Rossi, François Girodon,[...]. Hum Mutat 2014
48
Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis.
A de la Chapelle, A L Träskelin, E Juvonen. Proc Natl Acad Sci U S A 1993
A de la Chapelle, A L Träskelin, E Juvonen. Proc Natl Acad Sci U S A 1993
28
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.
Daniel A Arber, Attilio Orazi, Robert Hasserjian, Jürgen Thiele, Michael J Borowitz, Michelle M Le Beau, Clara D Bloomfield, Mario Cazzola, James W Vardiman. Blood 2016
Daniel A Arber, Attilio Orazi, Robert Hasserjian, Jürgen Thiele, Michael J Borowitz, Michelle M Le Beau, Clara D Bloomfield, Mario Cazzola, James W Vardiman. Blood 2016
28
A Gain-of-Function Mutation in EPO in Familial Erythrocytosis.
Jakub Zmajkovic, Pontus Lundberg, Ronny Nienhold, Maria L Torgersen, Anders Sundan, Anders Waage, Radek C Skoda. N Engl J Med 2018
Jakub Zmajkovic, Pontus Lundberg, Ronny Nienhold, Maria L Torgersen, Anders Sundan, Anders Waage, Radek C Skoda. N Engl J Med 2018
42
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, David Hoogewijs, Alexandre Buffet, Samantha J L Knight, Sophie Gad, Sophie Couvé,[...]. Blood 2018
Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, David Hoogewijs, Alexandre Buffet, Samantha J L Knight, Sophie Gad, Sophie Couvé,[...]. Blood 2018
26
The role of LNK/SH2B3 genetic alterations in myeloproliferative neoplasms and other hematological disorders.
N Maslah, B Cassinat, E Verger, J-J Kiladjian, L Velazquez. Leukemia 2017
N Maslah, B Cassinat, E Verger, J-J Kiladjian, L Velazquez. Leukemia 2017
22
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
Celeste Bento, Helena Almeida, Tabita M Maia, Luís Relvas, Ana C Oliveira, Cédric Rossi, François Girodon, Carlos Fernandez-Lago, Ascension Aguado-Diaz, Cristina Fraga,[...]. Eur J Haematol 2013
Celeste Bento, Helena Almeida, Tabita M Maia, Luís Relvas, Ana C Oliveira, Cédric Rossi, François Girodon, Carlos Fernandez-Lago, Ascension Aguado-Diaz, Cristina Fraga,[...]. Eur J Haematol 2013
29
JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.
Linda M Scott, Wei Tong, Ross L Levine, Mike A Scott, Philip A Beer, Michael R Stratton, P Andrew Futreal, Wendy N Erber, Mary Frances McMullin, Claire N Harrison,[...]. N Engl J Med 2007
Linda M Scott, Wei Tong, Ross L Levine, Mike A Scott, Philip A Beer, Michael R Stratton, P Andrew Futreal, Wendy N Erber, Mary Frances McMullin, Claire N Harrison,[...]. N Engl J Med 2007
20
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
Sonny O Ang, Hua Chen, Kiichi Hirota, Victor R Gordeuk, Jaroslav Jelinek, Yongli Guan, Enli Liu, Adelina I Sergueeva, Galina Y Miasnikova, David Mole,[...]. Nat Genet 2002
Sonny O Ang, Hua Chen, Kiichi Hirota, Victor R Gordeuk, Jaroslav Jelinek, Yongli Guan, Enli Liu, Adelina I Sergueeva, Galina Y Miasnikova, David Mole,[...]. Nat Genet 2002
18
Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia.
Katarina Kapralova, Monika Horvathova, Christian Pecquet, Jana Fialova Kucerova, Dagmar Pospisilova, Emilie Leroy, Barbora Kralova, Jelena D Milosevic Feenstra, Fiorella Schischlik, Robert Kralovics,[...]. Blood 2016
Katarina Kapralova, Monika Horvathova, Christian Pecquet, Jana Fialova Kucerova, Dagmar Pospisilova, Emilie Leroy, Barbora Kralova, Jelena D Milosevic Feenstra, Fiorella Schischlik, Robert Kralovics,[...]. Blood 2016
31
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.
Melanie J Percy, Paul W Furlow, Guy S Lucas, Xiping Li, Terence R J Lappin, Mary Frances McMullin, Frank S Lee. N Engl J Med 2008
Melanie J Percy, Paul W Furlow, Guy S Lucas, Xiping Li, Terence R J Lappin, Mary Frances McMullin, Frank S Lee. N Engl J Med 2008
18
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis.
Danijela Vočanec, Tinkara Prijatelj, Nataša Debeljak, Tanja Kunej. Int J Lab Hematol 2019
Danijela Vočanec, Tinkara Prijatelj, Nataša Debeljak, Tanja Kunej. Int J Lab Hematol 2019
56
Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.
Jennifer L Oliveira, Lea M Coon, Lori A Frederick, Molly Hein, Kenneth C Swanson, Michelle E Savedra, Tavanna R Porter, Mrinal M Patnaik, Ayalew Tefferi, Animesh Pardanani,[...]. Am J Hematol 2018
Jennifer L Oliveira, Lea M Coon, Lori A Frederick, Molly Hein, Kenneth C Swanson, Michelle E Savedra, Tavanna R Porter, Mrinal M Patnaik, Ayalew Tefferi, Animesh Pardanani,[...]. Am J Hematol 2018
32
A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis.
Melanie J Percy, Quan Zhao, Adrian Flores, Claire Harrison, Terence R J Lappin, Patrick H Maxwell, Mary Frances McMullin, Frank S Lee. Proc Natl Acad Sci U S A 2006
Melanie J Percy, Quan Zhao, Adrian Flores, Claire Harrison, Terence R J Lappin, Patrick H Maxwell, Mary Frances McMullin, Frank S Lee. Proc Natl Acad Sci U S A 2006
16
Infrequent occurrence of mutations in the PH domain of LNK in patients with JAK2 mutation-negative 'idiopathic' erythrocytosis.
Ambra Spolverini, Lisa Pieri, Paola Guglielmelli, Alessandro Pancrazzi, Tiziana Fanelli, Chiara Paoli, Alberto Bosi, Ilaria Nichele, Marco Ruggeri, Alessandro M Vannucchi. Haematologica 2013
Ambra Spolverini, Lisa Pieri, Paola Guglielmelli, Alessandro Pancrazzi, Tiziana Fanelli, Chiara Paoli, Alberto Bosi, Ilaria Nichele, Marco Ruggeri, Alessandro M Vannucchi. Haematologica 2013
38
Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.
James D Hoyer, Steven L Allen, Ernest Beutler, Kathleen Kubik, Carol West, Virgil F Fairbanks. Am J Hematol 2004
James D Hoyer, Steven L Allen, Ernest Beutler, Kathleen Kubik, Carol West, Virgil F Fairbanks. Am J Hematol 2004
25
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.
E Joanna Baxter, Linda M Scott, Peter J Campbell, Clare East, Nasios Fourouclas, Soheila Swanton, George S Vassiliou, Anthony J Bench, Elaine M Boyd, Natasha Curtin,[...]. Lancet 2005
E Joanna Baxter, Linda M Scott, Peter J Campbell, Clare East, Nasios Fourouclas, Soheila Swanton, George S Vassiliou, Anthony J Bench, Elaine M Boyd, Natasha Curtin,[...]. Lancet 2005
16
Erythrocytosis associated with a novel missense mutation in the BPGM gene.
Nayia Petousi, Richard R Copley, Terence R J Lappin, Sally E Haggan, Celeste M Bento, Holger Cario, Melanie J Percy, Peter J Ratcliffe, Peter A Robbins, Mary Frances McMullin. Haematologica 2014
Nayia Petousi, Richard R Copley, Terence R J Lappin, Sally E Haggan, Celeste M Bento, Holger Cario, Melanie J Percy, Peter J Ratcliffe, Peter A Robbins, Mary Frances McMullin. Haematologica 2014
50
LNK mutations and myeloproliferative disorders.
Mary Frances McMullin, Holger Cario. Am J Hematol 2016
Mary Frances McMullin, Holger Cario. Am J Hematol 2016
25
The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes.
R Rosa, M O Prehu, Y Beuzard, J Rosa. J Clin Invest 1978
R Rosa, M O Prehu, Y Beuzard, J Rosa. J Clin Invest 1978
14
The complete evaluation of erythrocytosis: congenital and acquired.
M M Patnaik, A Tefferi. Leukemia 2009
M M Patnaik, A Tefferi. Leukemia 2009
14
A guideline for the diagnosis and management of polycythaemia vera. A British Society for Haematology Guideline.
Mary Frances McMullin, Claire N Harrison, Sahra Ali, Catherine Cargo, Frederick Chen, Joanne Ewing, Mamta Garg, Anna Godfrey, Steven Knapper S, Donal P McLornan,[...]. Br J Haematol 2019
Mary Frances McMullin, Claire N Harrison, Sahra Ali, Catherine Cargo, Frederick Chen, Joanne Ewing, Mamta Garg, Anna Godfrey, Steven Knapper S, Donal P McLornan,[...]. Br J Haematol 2019
14
A guideline for the management of specific situations in polycythaemia vera and secondary erythrocytosis: A British Society for Haematology Guideline.
Mary F F McMullin, Adam J Mead, Sahra Ali, Catherine Cargo, Frederick Chen, Joanne Ewing, Mamta Garg, Anna Godfrey, Steven Knapper, Donal P McLornan,[...]. Br J Haematol 2019
Mary F F McMullin, Adam J Mead, Sahra Ali, Catherine Cargo, Frederick Chen, Joanne Ewing, Mamta Garg, Anna Godfrey, Steven Knapper, Donal P McLornan,[...]. Br J Haematol 2019
14
The role of PHD2 mutations in the pathogenesis of erythrocytosis.
Betty Gardie, Melanie J Percy, David Hoogewijs, Rasheduzzaman Chowdhury, Celeste Bento, Patrick R Arsenault, Stéphane Richard, Helena Almeida, Joanne Ewing, Frédéric Lambert,[...]. Hypoxia (Auckl) 2014
Betty Gardie, Melanie J Percy, David Hoogewijs, Rasheduzzaman Chowdhury, Celeste Bento, Patrick R Arsenault, Stéphane Richard, Helena Almeida, Joanne Ewing, Frédéric Lambert,[...]. Hypoxia (Auckl) 2014
21
Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases.
Aleša Kristan, Nataša Debeljak, Tanja Kunej. Eur J Haematol 2019
Aleša Kristan, Nataša Debeljak, Tanja Kunej. Eur J Haematol 2019
63
Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia.
Ryan C Russell, Roxana I Sufan, Bing Zhou, Pardeep Heir, Severa Bunda, Stephanie S Sybingco, Samantha N Greer, Olga Roche, Samuel A Heathcote, Vinca W K Chow,[...]. Nat Med 2011
Ryan C Russell, Roxana I Sufan, Bing Zhou, Pardeep Heir, Severa Bunda, Stephanie S Sybingco, Samantha N Greer, Olga Roche, Samuel A Heathcote, Vinca W K Chow,[...]. Nat Med 2011
12
A nonsynonymous LNK polymorphism associated with idiopathic erythrocytosis.
Mary Frances McMullin, Chao Wu, Melanie J Percy, Wei Tong. Am J Hematol 2011
Mary Frances McMullin, Chao Wu, Melanie J Percy, Wei Tong. Am J Hematol 2011
24
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
12
PHD2 mutation and congenital erythrocytosis with paraganglioma.
Charline Ladroue, Romain Carcenac, Michel Leporrier, Sophie Gad, Claire Le Hello, Françoise Galateau-Salle, Jean Feunteun, Jacques Pouysségur, Stéphane Richard, Betty Gardie. N Engl J Med 2008
Charline Ladroue, Romain Carcenac, Michel Leporrier, Sophie Gad, Claire Le Hello, Françoise Galateau-Salle, Jean Feunteun, Jacques Pouysségur, Stéphane Richard, Betty Gardie. N Engl J Med 2008
12
Investigation and Management of Erythrocytosis.
Mary Frances McMullin. Curr Hematol Malig Rep 2016
Mary Frances McMullin. Curr Hematol Malig Rep 2016
27
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Jenny C Taylor, Hilary C Martin, Stefano Lise, John Broxholme, Jean-Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan,[...]. Nat Genet 2015
Jenny C Taylor, Hilary C Martin, Stefano Lise, John Broxholme, Jean-Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan,[...]. Nat Genet 2015
12
12
Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.
Victor R Gordeuk, Adelina I Sergueeva, Galina Y Miasnikova, Daniel Okhotin, Yaroslav Voloshin, Peter L Choyke, John A Butman, Katerina Jedlickova, Josef T Prchal, Lydia A Polyakova. Blood 2004
Victor R Gordeuk, Adelina I Sergueeva, Galina Y Miasnikova, Daniel Okhotin, Yaroslav Voloshin, Peter L Choyke, John A Butman, Katerina Jedlickova, Josef T Prchal, Lydia A Polyakova. Blood 2004
12
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.
Melanie J Percy, Philip A Beer, Gavin Campbell, Ad W Dekker, Anthony R Green, David Oscier, M Glenn Rainey, Richard van Wijk, Marion Wood, Terence R J Lappin,[...]. Blood 2008
Melanie J Percy, Philip A Beer, Gavin Campbell, Ad W Dekker, Anthony R Green, David Oscier, M Glenn Rainey, Richard van Wijk, Marion Wood, Terence R J Lappin,[...]. Blood 2008
12
Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia.
Zhengping Zhuang, Chunzhang Yang, Felipe Lorenzo, Maria Merino, Tito Fojo, Electron Kebebew, Vera Popovic, Constantine A Stratakis, Josef T Prchal, Karel Pacak. N Engl J Med 2012
Zhengping Zhuang, Chunzhang Yang, Felipe Lorenzo, Maria Merino, Tito Fojo, Electron Kebebew, Vera Popovic, Constantine A Stratakis, Josef T Prchal, Karel Pacak. N Engl J Med 2012
12
A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.
Felipe R Lorenzo, Chunzhang Yang, Mark Ng Tang Fui, Hariprasad Vankayalapati, Zhengping Zhuang, Thanh Huynh, Mathis Grossmann, Karel Pacak, Josef T Prchal. J Mol Med (Berl) 2013
Felipe R Lorenzo, Chunzhang Yang, Mark Ng Tang Fui, Hariprasad Vankayalapati, Zhengping Zhuang, Thanh Huynh, Mathis Grossmann, Karel Pacak, Josef T Prchal. J Mol Med (Berl) 2013
12
Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis.
Mary F McMullin, D Bareford, P Campbell, A R Green, Claire Harrison, Beverley Hunt, D Oscier, M I Polkey, J T Reilly, E Rosenthal,[...]. Br J Haematol 2005
Mary F McMullin, D Bareford, P Campbell, A R Green, Claire Harrison, Beverley Hunt, D Oscier, M I Polkey, J T Reilly, E Rosenthal,[...]. Br J Haematol 2005
12
Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.
Terence R Lappin, Frank S Lee. Blood Rev 2019
Terence R Lappin, Frank S Lee. Blood Rev 2019
17
Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2 alpha mutation.
Daniel P Gale, Sarah K Harten, Cecil D L Reid, Edward G D Tuddenham, Patrick H Maxwell. Blood 2008
Daniel P Gale, Sarah K Harten, Cecil D L Reid, Edward G D Tuddenham, Patrick H Maxwell. Blood 2008
10
Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS heterodimer regulated by cellular O2 tension.
G L Wang, B H Jiang, E A Rue, G L Semenza. Proc Natl Acad Sci U S A 1995
G L Wang, B H Jiang, E A Rue, G L Semenza. Proc Natl Acad Sci U S A 1995
10
Lnk inhibits erythropoiesis and Epo-dependent JAK2 activation and downstream signaling pathways.
Wei Tong, Jing Zhang, Harvey F Lodish. Blood 2005
Wei Tong, Jing Zhang, Harvey F Lodish. Blood 2005
10
The Polymorphisms in LNK Gene Correlated to the Clinical Type of Myeloproliferative Neoplasms.
Yan Chen, Fang Fang, Yang Hu, Qian Liu, Dingfang Bu, Mei Tan, Liusong Wu, Ping Zhu. PLoS One 2016
Yan Chen, Fang Fang, Yang Hu, Qian Liu, Dingfang Bu, Mei Tan, Liusong Wu, Ping Zhu. PLoS One 2016
35
Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms.
Stephen T Oh, Erin F Simonds, Carol Jones, Matthew B Hale, Yury Goltsev, Kenneth D Gibbs, Jason D Merker, James L Zehnder, Garry P Nolan, Jason Gotlib. Blood 2010
Stephen T Oh, Erin F Simonds, Carol Jones, Matthew B Hale, Yury Goltsev, Kenneth D Gibbs, Jason D Merker, James L Zehnder, Garry P Nolan, Jason Gotlib. Blood 2010
10
Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms.
David A Hinds, Kimberly E Barnholt, Ruben A Mesa, Amy K Kiefer, Chuong B Do, Nicholas Eriksson, Joanna L Mountain, Uta Francke, Joyce Y Tung, Huong Marie Nguyen,[...]. Blood 2016
David A Hinds, Kimberly E Barnholt, Ruben A Mesa, Amy K Kiefer, Chuong B Do, Nicholas Eriksson, Joanna L Mountain, Uta Francke, Joyce Y Tung, Huong Marie Nguyen,[...]. Blood 2016
10
Polycythemia associated with a hemoglobinopathy.
S Charache, D J Weatherall, J B Clegg. J Clin Invest 1966
S Charache, D J Weatherall, J B Clegg. J Clin Invest 1966
10
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.
Chloé James, Valérie Ugo, Jean-Pierre Le Couédic, Judith Staerk, François Delhommeau, Catherine Lacout, Loïc Garçon, Hana Raslova, Roland Berger, Annelise Bennaceur-Griscelli,[...]. Nature 2005
Chloé James, Valérie Ugo, Jean-Pierre Le Couédic, Judith Staerk, François Delhommeau, Catherine Lacout, Loïc Garçon, Hana Raslova, Roland Berger, Annelise Bennaceur-Griscelli,[...]. Nature 2005
10
A gain-of-function mutation of JAK2 in myeloproliferative disorders.
Robert Kralovics, Francesco Passamonti, Andreas S Buser, Soon-Siong Teo, Ralph Tiedt, Jakob R Passweg, Andre Tichelli, Mario Cazzola, Radek C Skoda. N Engl J Med 2005
Robert Kralovics, Francesco Passamonti, Andreas S Buser, Soon-Siong Teo, Ralph Tiedt, Jakob R Passweg, Andre Tichelli, Mario Cazzola, Radek C Skoda. N Engl J Med 2005
10
Advances in understanding the pathogenesis of primary familial and congenital polycythaemia.
Lily J Huang, Yu-Min Shen, Gamze B Bulut. Br J Haematol 2010
Lily J Huang, Yu-Min Shen, Gamze B Bulut. Br J Haematol 2010
17
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.