Elisabeth Gabau

Chromosome 21 Disomy in the Spermatozoa of the Fathers of Children with Trisomy 21, in a Population with a High Prevalence of Down Syndrome: Increased Incidence in Cases of Paternal Origin

Joan Blanco, Elisabeth Gabau, David Gómez et al. · The American Journal of Human Genetics · 1998 · 159 citations · Full text

Down Syndrome, Infertility, Andrology +12

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

Marta Codina‐Solà, Benjamín Rodríguez‐Santiago, Aïda Homs et al. · Molecular Autism · 2015 · 134 citations · Full text

Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome

Anna Brunet, Elisabeth Gabau, Rosa Maria Perich et al. · American Journal of Medical Genetics Part A · 2006 · 91 citations

Genetics, Pathology, Clinical Features +17

Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia

Benjamín Rodríguez‐Santiago, A Brunet, Beatriz Sobrino et al. · Molecular Psychiatry · 2009 · 87 citations

Genome-wide Association Study, Psychiatry, Genetics +7

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

Julián Nevado, Sixto García‐Miñáur, María Palomares‐Bralo et al. · Frontiers in Genetics · 2022 · 49 citations · Full text