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

Life Sciences, Genetics, Molecular Genetics +17

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 · 135 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 92 citations

Life Sciences, Genetics, Molecular Genetics +16

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

Life Sciences, Genetics, Molecular Genetics +16

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer et al. · The American Journal of Human Genetics · 2020 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15