Tal Ben-Ami


AuthID: R-00F-S47

Publicações a aguardarem confirmação

1
TITLE: Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases  Full Text
AUTHORS: 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.; ...More
PUBLISHED: 2023, SOURCE: GENOME MEDICINE, VOLUME: 15, ISSUE: 1
INDEXED IN: Scopus WOS
2
TITLE: Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases  Full Text
AUTHORS: 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; ...More
PUBLISHED: 2014, SOURCE: HUMAN MUTATION, VOLUME: 35, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 39

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