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Luis A. Pérez-Jurado

Luis A. Pérez-Jurado

D-Index & Metrics

Genetics

D-Index
52
Citations
9124
World Ranking
3800
National Ranking
70

Overview

Luis A. Pérez-Jurado is affiliated with Pompeu Fabra University in Spain. Their primary field of study lies within Biochemistry, Genetics and Molecular Biology, with a focus on Genetics, Molecular Biology, Cell Biology, Cellular and Molecular Neuroscience, and Developmental Neuroscience.

The main research topics addressed in their work include:

  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Genetics and Neurodevelopmental Disorders
  • RNA modifications and cancer
  • Epigenetics and DNA Methylation
  • Williams Syndrome Research
  • Congenital heart defects research

Frequent co-authors collaborating with Pérez-Jurado are:

  • Juan R. González
  • Pablo Lapunzina
  • Alejandro Cáceres
  • Marcos López-Sánchez
  • Jesús Argente

The scientist regularly publishes in several venues, including:

  • Genetics in Medicine
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Communications Biology
  • Nature Communications
  • Cells

Recent published papers illustrate the scope of their research:

  • Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders, 2020, Nature Communications
  • A six-attribute classification of genetic mosaicism, 2020, Genetics in Medicine
  • Pregnancy-Associated Plasma Protein (PAPP)-A2 in Physiology and Disease, 2021, Cells
  • Short stature with low insulin-like growth factor 1 availability due to pregnancy-associated plasma protein A2 deficiency in a Saudi family, 2021, Clinical Genetics
  • Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals, 2022, Frontiers in Genetics

Best Publications

  • Detectable clonal mosaicism and its relationship to aging and cancer

    Kevin B. Jacobs;Kevin B. Jacobs;Meredith Yeager;Meredith Yeager;Weiyin Zhou;Weiyin Zhou;Sholom Wacholder

  • A DNA methylation fingerprint of 1628 human samples

    Augustin F. Fernandez;Yassen Assenov;Jose Ignacio Martin-Subero;Balazs Balint

  • Severe expressive-language delay related to duplication of the Williams-Beuren locus.

    Martin J. Somerville;Carolyn B. Mervis;Edwin J. Young;Eul-Ju Seo

  • Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

    B W M van Bon;H C Mefford;B Menten;D A Koolen

  • Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

    Gijs W E Santen;Emmelien Aten;Anneke T. Vulto-van Silfhout;Caroline Pottinger

  • Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14. 1-p12.3

    M Tachibana;L A Perez-Jurado;A Nakayama;C A Hodgkinson

  • A Physical Map, Including a BAC/PAC Clone Contig, of the Williams-Beuren Syndrome–Deletion Region at 7q11.23

    Risa Peoples;Yvonne Franke;Yu Ker Wang;Yu Ker Wang;Luis Perez-Jurado;Luis Perez-Jurado

  • A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23

    Yu-Ker Wang;Cindy Harryman Samos;Risa Peoples;Luis A. Pérez-Jurado

  • Mosaic loss of chromosome Y is associated with common variation near TCL1A

    Weiyin Zhou;Weiyin Zhou;Mitchell J Machiela;Neal D Freedman;Nathaniel Rothman

  • Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability

    Andrew Dauber;María T Muñoz‐Calvo;Vicente Barrios;Horacio M Domené

  • Diverse growth hormone receptor gene mutations in Laron syndrome.

    M. A. Berg;J. Argente;S. Chernausek;R. Gracia

  • Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile

    A Antonell;M Del Campo;L F Magano;L Kaufmann

  • DNA methylation abnormalities in congenital heart disease

    Clara Serra-Juhé;Ivon Cuscó;Aïda Homs;Raquel Flores

  • Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes

    Mireia Vilardell;Mireia Vilardell;Axel Rasche;Anja Thormann;Elisabeth Maschke-Dutz

  • Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome

    Benjamín Rodríguez-Santiago;Núria Malats;Nathaniel Rothman;Lluís Armengol

  • Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

    Ivon Cuscó;Andrés Medrano;Blanca Gener;Mireia Vilardell

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

    Marta Codina-Solà;Benjamín Rodríguez-Santiago;Aïda Homs;Javier Santoyo

  • De novo copy number variants associated with intellectual disability have a paternal origin and age bias

    Jayne Y Hehir-Kwa;Benjamín Rodríguez-Santiago;Benjamín Rodríguez-Santiago;Lisenka E Vissers;Nicole de Leeuw

  • New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0

    Vanesa Álvarez-Iglesias;Ana Mosquera-Miguel;María Cerezo;Beatriz Quintáns

  • Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020)

    Tianyun Wang;Kendra Hoekzema;Davide Vecchio;Huidan Wu

Frequent Co-Authors

Francisco X. Real
Francisco X. Real Pompeu Fabra University
Juan R. González
Juan R. González Barcelona Institute for Global Health
Stephen J. Chanock
Stephen J. Chanock National Institutes of Health
Nathaniel Rothman
Nathaniel Rothman National Institutes of Health
Núria Malats
Núria Malats Spanish National Cancer Research Centre
Debra T. Silverman
Debra T. Silverman National Institutes of Health
Meredith Yeager
Meredith Yeager Hood College
Kevin B. Jacobs
Kevin B. Jacobs Progenity (United States)
Uta Francke
Uta Francke Stanford University
Michael Dean
Michael Dean National Institutes of Health

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