Luis Pérez Jurado

A duplicated gene in the breakpoint regions of the 7q11.23 Williams- Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

Luis Pérez Jurado · Human Molecular Genetics · 1998 · 177 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Steven Laurie, Davide Piscia, Leslie Matalonga et al. · Human Mutation · 2022 · 62 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

CSVS, a crowdsourcing database of the Spanish population genetic variability

María Peña-Chilet, Gema Roldán, Javier Pérez-Florido et al. · Nucleic Acids Research · 2020 · 58 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Structure, Organization, and Chromosomal Mapping of the Human Neurogranin Gene (NRGN)

Cruz Martı́nez de Arrieta, Luis Pérez Jurado, Juan Bernal et al. · Genomics · 1997 · 40 citations

Life Sciences, Genetics, Neuroscience +11

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Jair Tenorio, Pablo Alarcón, Pedro Arias et al. · European Journal of Human Genetics · 2019 · 31 citations · Full text

Medicine, Genetics, Molecular Genetics +13