ProfileOfResearchers

Identificadas 8

TÃTULO: Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis Full Text
AUTORES: Karaghiannis, Valena; Maric, Darko; Garrec, Celine; Maaziz, Nada; Buffet, Alexandre; Schmitt, Loic; Antunes, Vincent; Airaud, Fabrice; Aral, Bernard; Le Roy, Amandine; Corbineau, Sebastien; Mansour Hendili, Lamisse; Lesieur, Valentine; Rimbert, Antoine; Laporte, Fabien; Delamare, Marine; Rab, Mink; Bezieau, Stephane; Cassinat, Bruno; Galacteros, Frederic; Gimenez Roqueplo, Anne Paule; Burnichon, Nelly; Cario, Holger; van Wijk, Richard; Bento, Celeste; Girodon, Francois; Hoogewijis, David; Gardie, Betty; ...Mais
PUBLICAÇÃO: 2023, FONTE: HAEMATOLOGICA, VOLUME: 108, NÚMERO: 6

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WOS

TÃTULO: Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases Full Text
AUTORES: Pagnamenta, Alistair T.; Camps, Carme; Giacopuzzi, Edoardo; Taylor, John M.; Hashim, Mona; Calpena, Eduardo; Kaisaki, Pamela J.; Hashimoto, Akiko; Yu, Jing; Sanders, Edward; Schwessinger, Ron; Hughes, Jim R.; Lunter, Gerton; Dreau, Helene; Ferla, Matteo; Lange, Lukas; Kesim, Yesim; Ragoussis, Vassilis; Vavoulis, Dimitrios V.; Allroggen, Holger; Ansorge, Olaf; Babbs, Christian; Banka, Siddharth; Banos Pinero, Benito; Beeson, David; Ben Ami, Tal; Bennett, David L.; Bento, Celeste; Blair, Edward; Brasch Andersen, Charlotte; Bull, Katherine R.; Cario, Holger; Cilliers, Deirdre; Conti, Valerio; Davies, E. Graham; Dhalla, Fatima; Dacal, Beatriz Diez; Dong, Yin; Dunford, James E.; Guerrini, Renzo; Harris, Adrian L.; Hartley, Jane; Hollander, Georg; Javaid, Kassim; Kane, Maureen; Kelly, Deirdre; Kelly, Dominic; Knight, Samantha J. L.; Kreins, Alexandra Y.; Kvikstad, Erika M.; Langman, Craig B.; Lester, Tracy; Lines, Kate E.; Lord, Simon R.; Lu, Xin; Mansour, Sahar; Manzur, Adnan; Maroofian, Reza; Marsden, Brian; Mason, Joanne; McGowan, Simon J.; Mei, Davide; Mlcochova, Hana; Murakami, Yoshiko; Nemeth, Andrea H.; Okoli, Steven; Ormondroyd, Elizabeth; Ousager, Lilian Bomme; Palace, Jacqueline; Patel, Smita Y.; Pentony, Melissa M.; Pugh, Chris; Rad, Aboulfazl; Ramesh, Archana; Riva, Simone G.; Roberts, Irene; Roy, Noemi; Salminen, Outi; Schilling, Kyleen D.; Scott, Caroline; Sen, Arjune; Smith, Conrad; Stevenson, Mark; Thakker, Rajesh V.; Twigg, Stephen R. F.; Uhlig, Holm H.; van Wijk, Richard; Vona, Barbara; Wall, Steven; Wang, Jing; Watkins, Hugh; Zak, Jaroslav; Schuh, Anna H.; Kini, Usha; Wilkie, Andrew O. M.; Popitsch, Niko; Taylor, Jenny C.; ...Mais
PUBLICAÇÃO: 2023, FONTE: GENOME MEDICINE, VOLUME: 15, NÚMERO: 1

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WOS

TÃTULO: Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
AUTORES: Marion Lenglet; Florence Robriquet; Klaus Schwarz; Carme Camps; Anne Couturier; David Hoogewijs; Alexandre Buffet; Samantha J L Knight; Sophie Gad; Sophie Couve; Franck Chesnel; Mathilde Pacault; Pierre Lindenbaum; Sylvie Job; Solenne Dumont; Thomas Besnard; Marine Cornec; Helene Dreau; Melissa Pentony; Erika Kvikstad; Sophie Deveaux; Nelly Burnichon; Sophie Ferlicot; Mathias Vilaine; Jean Michael Mazzella; Fabrice Airaud; Celine Garrec; Laurence Heidet; Sabine Irtan; Elpis Mantadakis; Karim Bouchireb; Klaus Michael Debatin; Richard Redon; Stephane Bezieau; Brigitte Bressac de Paillerets; Bin Tean Teh; Francois Girodon; Maria Luigia Randi; Maria Caterina Putti; Vincent Bours; Richard VanWijk; Joachim R Goethert; Antonis Kattamis; Nicolas Janin; Celeste Bento; Jenny C Taylor; Yannick Arlot Bonnemains; Stephane Richard; Anne Paule Gimenez Roqueplo; Holger Cario; Betty Gardie; ...Mais
PUBLICAÇÃO: 2018, FONTE: BLOOD, VOLUME: 132, NÚMERO: 5

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WOS

TÃTULO: Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations Full Text
AUTORES: 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;
PUBLICAÇÃO: 2016, FONTE: HAEMATOLOGICA, VOLUME: 101, NÚMERO: 11

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WOS

TÃTULO: Outcomes of pregnancy in patients with congenital erythrocytosis Full Text
AUTORES: Mary F McMullin; Celeste Bento; Cedric Rossi; Glenn G Rainey; Francois Girodon; Holger Cario;
PUBLICAÇÃO: 2015, FONTE: BRITISH JOURNAL OF HAEMATOLOGY, VOLUME: 170, NÚMERO: 4

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CrossRef

TÃTULO: Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases Full Text
AUTORES: Celeste Bento; Melanie J Percy; Betty Gardie; Tabita Magalhães Maia; Richard van Wijk; Silverio Perrotta; Fulvio Della Ragione; Helena Almeida; Cedric Rossi; François Girodon; Maria Åström; Drorit Neumann; Susanne Schnittger; Britta Landin; Milen Minkov; Maria Luigia Randi; Stéphane Richard; Nicole Casadevall; William Vainchenker; Susana Rives; Sylvie Hermouet; Leticia L Ribeiro; Mary Frances McMullin; Holger Cario; Aurelie Chauveau; Anne-Paule Gimenez-Roqueplo; Brigitte Bressac-de-Paillerets; Didem Altindirek; Felipe Lorenzo; Frederic Lambert; Harlev Dan; Sophie Gad-Lapiteau; Ana Catarina Oliveira; Cédric Rossi; Cristina Fraga; Gennadiy Taradin; Guillermo Martin-Nuñez; Helena Vitória; Herrera Diaz Aguado; Jan Palmblad; Julia Vidán; Luis Relvas; Maria Leticia Ribeiro; Maria Luigi Larocca; Maria Luigia Randi; Maria Pedro Silveira; Melanie Percy; Mor Gross; Ricardo Marques da Costa; Soheir Beshara; Tal Ben-Ami; Valérie Ugo; ...Mais
PUBLICAÇÃO: 2014, FONTE: HUMAN MUTATION, VOLUME: 35, NÚMERO: 1

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WOS

CrossRef: 39