Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants
Serra-Juhé, Clara, Martos-Moreno, Gabriel Á, Bou de Pieri, Francesc, Flores, Raquel, González, Juan R, Rodríguez-Santiago, Benjamín, Argente, Jesús, Pérez-Jurado, Luis A
Published in PLoS genetics (10.05.2017)
Published in PLoS genetics (10.05.2017)
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Journal Article
Development of a registration system for genetic counsellors and nurses in health-care services in Europe
Paneque, Milena, Moldovan, Ramona, Cordier, Christophe, Serra-Juhé, Clara, Feroce, Irene, Lambert, Debby, Bjørnevoll, Inga, Skirton, Heather
Published in European journal of human genetics : EJHG (01.03.2016)
Published in European journal of human genetics : EJHG (01.03.2016)
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Journal Article
Psychiatric genetic counseling: A mapping exercise
Moldovan, Ramona, McGhee, Kevin A., Coviello, Domenico, Hamang, Anniken, Inglis, Angela, Ingvoldstad Malmgren, Charlotta, Johansson‐Soller, Maria, Laurino, Mercy, Meiser, Bettina, Murphy, Lauren, Paneque, Milena, Papsuev, Oleg, Pawlak, Joanna, Rovira Moreno, Eulàlia, Serra‐Juhe, Clara, Shkedi‐Rafid, Shiri, Laing, Nakita, Voelckel, Marie‐Antoinette, Watson, Melanie, Austin, Jehannine C.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.12.2019)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.12.2019)
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Journal Article
Beyond the disease itself: A cross‐cutting educational initiative for patients and families with rare diseases
Rovira‐Moreno, Eulàlia, Abuli, Anna, Codina‐Sola, Marta, Valenzuela, Irene, Serra‐Juhe, Clara, Cuscó, Ivon, Borregán, Mar, Cueto‐González, Anna, Vendrell, Teresa, López‐Grondona, Fermina, Brun‐Gasca, Carme, Brignani, Eduardo, Martínez‐Ribot, Laia, Garci‐Espejo, Regla, Cruz, Jordi, García‐Arumí, Elena, Tizzano, Eduardo F.
Published in Journal of genetic counseling (01.06.2021)
Published in Journal of genetic counseling (01.06.2021)
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Journal Article
Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability
Dauber, Andrew, Muñoz‐Calvo, María T, Barrios, Vicente, Domené, Horacio M, Kloverpris, Soren, Serra‐Juhé, Clara, Desikan, Vardhini, Pozo, Jesús, Muzumdar, Radhika, Martos‐Moreno, Gabriel Á, Hawkins, Federico, Jasper, Héctor G, Conover, Cheryl A, Frystyk, Jan, Yakar, Shoshana, Hwa, Vivian, Chowen, Julie A, Oxvig, Claus, Rosenfeld, Ron G, Pérez‐Jurado, Luis A, Argente, Jesús
Published in EMBO molecular medicine (01.04.2016)
Published in EMBO molecular medicine (01.04.2016)
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Journal Article
An European overview of genetic counselling supervision provision
Paneque, Milena, Guimarães, Lídia, Bengoa, Joana, Pasalodos, Sara, Cordier, Christophe, Esteban, Irene, Lemos, Carolina, Moldovan, Ramona, Serra-Juhé, Clara
Published in European journal of medical genetics (01.04.2023)
Published in European journal of medical genetics (01.04.2023)
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Journal Article
DNA methylation abnormalities in congenital heart disease
Serra-Juhé, Clara, Cuscó, Ivon, Homs, Aïda, Flores, Raquel, Torán, Núria, Pérez-Jurado, Luis A
Published in Epigenetics (2015)
Published in Epigenetics (2015)
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Journal Article
Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe
Paneque, Milena, Serra-Juhé, Clara, Pestoff, Rebecka, Cordier, Christophe, Silva, João, Moldovan, Ramona, Ingvoldstad, Charlotta
Published in European journal of human genetics : EJHG (01.08.2017)
Published in European journal of human genetics : EJHG (01.08.2017)
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Journal Article
The perceived impact of the European registration system for genetic counsellors and nurses
Paneque, Milena, Moldovan, Ramona, Cordier, Christophe, Serra-Juhé, Clara, Feroce, Irene, Pasalodos, Sara, Haquet, Emmanuelle, Lambert, Debby, Bjørnevoll, Inga, Skirton, Heather
Published in European journal of human genetics : EJHG (01.09.2017)
Published in European journal of human genetics : EJHG (01.09.2017)
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Journal Article
Provision of Genetic Services for Autism and its Impact on Spanish Families
Codina-Solà, Marta, Pérez-Jurado, Luis A., Cuscó, Ivon, Serra-Juhé, Clara
Published in Journal of autism and developmental disorders (01.10.2017)
Published in Journal of autism and developmental disorders (01.10.2017)
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Journal Article
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases
Cavestro, Chiara, Morra, Francesca, Legati, Andrea, D'Amato, Marco, Nasca, Alessia, Iuso, Arcangela, Lubarr, Naomi, Morrison, Jennifer L., Wheeler, Patricia G., Serra‐Juhé, Clara, Rodríguez‐Santiago, Benjamín, Turón‐Viñas, Eulalia, Prouteau, Clement, Barth, Magalie, Hayflick, Susan J., Ghezzi, Daniele, Tiranti, Valeria, Di Meo, Ivano
Published in Annals of clinical and translational neurology (01.06.2024)
Published in Annals of clinical and translational neurology (01.06.2024)
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Journal Article
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
Sailani, M Reza, Makrythanasis, Periklis, Valsesia, Armand, Santoni, Federico A, Deutsch, Samuel, Popadin, Konstantin, Borel, Christelle, Migliavacca, Eugenia, Sharp, Andrew J, Duriaux Sail, Genevieve, Falconnet, Emilie, Rabionet, Kelly, Serra-Juhé, Clara, Vicari, Stefano, Laux, Daniela, Grattau, Yann, Dembour, Guy, Megarbane, Andre, Touraine, Renaud, Stora, Samantha, Kitsiou, Sofia, Fryssira, Helena, Chatzisevastou-Loukidou, Chariklia, Kanavakis, Emmanouel, Merla, Giuseppe, Bonnet, Damien, Pérez-Jurado, Luis A, Estivill, Xavier, Delabar, Jean M, Antonarakis, Stylianos E
Published in Genome research (01.09.2013)
Published in Genome research (01.09.2013)
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Journal Article
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
Armengol, Lluís, Nevado, Julián, Serra-Juhé, Clara, Plaja, Alberto, Mediano, Carmen, García-Santiago, Fe Amalia, García-Aragonés, Manel, Villa, Olaya, Mansilla, Elena, Preciado, Cristina, Fernández, Luis, Mori, María Ángeles, García-Pérez, Lidia, Lapunzina, Pablo Daniel, Pérez-Jurado, Luis Alberto
Published in Human genetics (01.03.2012)
Published in Human genetics (01.03.2012)
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Journal Article
A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding
Granell, Susana, Serra-Juhé, Clara, Martos-Moreno, Gabriel Á, Díaz, Francisca, Pérez-Jurado, Luis A, Baldini, Giulia, Argente, Jesús
Published in PloS one (12.12.2012)
Published in PloS one (12.12.2012)
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Journal Article
Current Status of Genetic Counselling for Rare Diseases in Spain
Álvaro-Sánchez, Sara, Abreu-Rodríguez, Irene, Abulí, Anna, Serra-Juhe, Clara, Garrido-Navas, Maria Del Carmen
Published in Diagnostics (Basel) (09.12.2021)
Published in Diagnostics (Basel) (09.12.2021)
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Journal Article
Contribution of rare copy number variants to isolated human malformations
Serra-Juhé, Clara, Rodríguez-Santiago, Benjamín, Cuscó, Ivon, Vendrell, Teresa, Camats, Núria, Torán, Núria, Pérez-Jurado, Luis A
Published in PloS one (03.10.2012)
Published in PloS one (03.10.2012)
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Journal Article
Underdiagnosed Beckwith-Wiedemann syndrome among early onset obese children
Martos-Moreno, Gabriel Á, Serra-Juhé, Clara, Pérez-Jurado, Luis A, Argente, Jesús
Published in Archives of disease in childhood (01.10.2014)
Published in Archives of disease in childhood (01.10.2014)
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Journal Article