Understanding the Pathophysiology and Searching for Biomarkers for Rare Genetic Developmental Diseases

by Laura Castilla-Vallmanya, Roser Urreizti, Héctor Franco, Jeanne Amiel, Tiong Y. Tan, Luitgard Graul Neumann, Christopher T. Gordon, Daniel Grinberg
Published 2019-08-01

<i>De Novo PORCN</i> and <i>ZIC2</i> Mutations in a Highly Consanguineous Family

by Laura Castilla-Vallmanya, Semra Gürsoy, Özlem Giray-Bozkaya, Aina Prat-Planas, Gemma Bullich, Leslie Matalonga, Mónica Centeno-Pla, Raquel Rabionet, Daniel Grinberg, Susanna Balcells, Roser Urreizti
Published 2021-02-01

Erratum to: MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones

by Laura De-Ugarte, Guy Yoskovitz, Susana Balcells, Robert Güerri-Fernández, Santos Martinez-Diaz, Leonardo Mellibovsky, Roser Urreizti, Xavier Nogués, Daniel Grinberg, Natalia García-Giralt, Adolfo Díez-Pérez
Published 2017-05-01

Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women.

by Patricia Sarrión, Leonardo Mellibovsky, Roser Urreizti, Sergi Civit, Neus Cols, Natàlia García-Giralt, Guy Yoskovitz, Alvaro Aranguren, Jorge Malouf, Silvana Di Gregorio, Luís Del Río, Roberto Güerri, Xavier Nogués, Xavier Nogués, Adolfo Díez-Pérez, Daniel Grinberg, Susana Balcells
Published 2014-01-01

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

by Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez, Susanna Balcells
Published 2020-02-01

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

by Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey
Published 2021-05-01