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Journal Articles

Mutually-Exclusive Pathways between IKZF1 plus and RAS Mutations and TP53 double-Hit Alterations Lead Relapse in B-Other, Ph-like and Hyperdiploidy Genetic Groups in Adult B-Cell Acute Lymphoblastic Leukemia

Josgrey Del Valle Del Valle Navas Acosta, Teresa González, Inmaculada Serramito-Gómez, Angela Villaverde Ramiro, Cristina Miguel-García, Sandra Santos-Mínguez, Jordi Ribera, Isabel Granada, Mireia Morgades, Ricardo Sanchez, Esperanza Such, Susana Barrera, Juana Ciudad, Alberto Orfao, Julio Davila Valls, Natalia De Las Heras, José Fuster, Alfonso Garcia de Coca, Jorge Labrador, Jose Antonio Queizan Hernandez, María Carmen Mendoza, Susana Riesco, Sandra Martín, Josep-Maria Ribera, Maria Rocio Benito Sanchez, Jesús María Hernández-Rivas
Journal: Blood
Blood (2023) 142 (Supplement 1): 1616.
https://doi.org/10.1182/blood-2023-182163
Published: 2023
Journal Articles

Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

Ana Marín-Quílez, Christian Andrea Di Buduo, Lorena Díaz-Ajenjo, Vittorio Abbonante, Elena Vuelta, Paolo Maria Soprano, Cristina Miguel-García, Sandra Santos-Mínguez, Inmaculada Serramito-Gómez, Pedro Ruiz-Sala, María Jesús Peñarrubia, Emilia Pardal, Jesús María Hernández-Rivas, José Ramón González-Porras, Ignacio García-Tuñón, Rocío Benito, José Rivera, Alessandra Balduini, José María Bastida
Journal: Blood
Blood (2023) 141 (4): 406–421.
https://doi.org/10.1182/blood.2022016995
Published: 2023
Includes: Supplemental data
Journal Articles

Enabling the Implementation of Next-Generation Sequencing into Clinical Diagnosis: Nemhesys Project

Jesús María Hernández-Rivas, Inmaculada Serramito-Gómez, Saara Kallio, Amparo Cantalejo, Jana Kotaskova, Ana E. Rodriguez, María Abáigar, Rocio Benito, Anna Dolnik, Mark Catherwood, Jaine Blayney, Boris Tichý, Ivana Chalupová, Philippe Dubois, Roberto Lopez, Carlos Barranquero, María Díaz Lorenzo, Mylène Leitzelman, Sadiksha Adhikari, Šárka Pospíšilová, Lars Bullinger, Ken I Mills, Caroline A. Heckman
Journal: Blood
Blood (2022) 140 (Supplement 1): 13122–13124.
https://doi.org/10.1182/blood-2022-163285
Published: 2022
Journal Articles

Identification By Whole Exome Sequencing of the Molecular Defect in a Novel Gene Related to Glycosylation in Two Unrelated Families with Syndromic Macrothrombocytopenia

Ana Marín-Quílez, Elena Vuelta, Sandra Santos-Mínguez, Cristina Miguel-García, Pedro Ruíz-Sala, Veronica Palma-Barqueros, Lorena Díaz-Ajenjo, Inmaculada Serramito-Gómez, Maria Jesús Peñarrubia, Emilia Pardal, Daisy Castiñeiras-Ramos, José Ramón González-Porras, Jose Rivera, Rocio Benito, Jesus Maria Hernández-Rivas, Ignacio García-Tuñón, Jose Maria Bastida
Journal: Blood
Blood (2021) 138 (Supplement 1): 588.
https://doi.org/10.1182/blood-2021-150765
Published: 2021