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L. Armengol · SciRah

Researcher profile · Semantic Scholar

L. Armengol

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L. Armengol — researcher profile on SciRah

h-index: 32
Works: 73
Citations: 8,976

Most-cited papers

Global variation in copy number in the human genome
R. Redon, S. Ishikawa, Karen R. Fitch, L. Feuk +39 more
2006Nature4,441 citations Open access
Semantic Scholar
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
H. Mefford, A. Sharp, C. Baker, A. Itsara +80 more
2008New England Journal of Medicine706 citations Open access
Semantic Scholar
Deletion of the late cornified envelope (LCE) 3B and 3C genes as a susceptibility factor for psoriasis
R. de Cid, E. Riveira-Muñoz, P. Zeeuwen, J. Robarge +24 more
2009Nature Genetics551 citations Open access
Semantic Scholar
Origin of primate orphan genes: a comparative genomics approach.
M. Toll-Riera, N. Bosch, N. Bellora, R. Castelo +3 more
2008Molecular biology and evolution247 citations Open access
Semantic Scholar
Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type
M. Ribasés, M. Gratacòs, L. Armengol, R. de Cid +6 more
2003Molecular Psychiatry221 citations Open access
Semantic Scholar
Human Chromosome 7: DNA Sequence and Biology
S. Scherer, Joseph Cheung, J. MacDonald, L. Osborne +86 more
2003Science218 citations Open access
Semantic Scholar
A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders.
M. Gratacòs, M. Nadal, R. Martín-Santos, M. Pujana +7 more
2001Cell198 citations Open access
Semantic Scholar
Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling.
S. Beá, I. Salaverria, L. Armengol, M. Pinyol +10 more
2009Blood178 citations Open access
Semantic Scholar
Genome assembly comparison identifies structural variants in the human genome
R. Khaja, Junjun Zhang, J. MacDonald, Yong-Shu He +16 more
2006Nature Genetics171 citations Open access
Semantic Scholar
Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements.
L. Armengol, M. Pujana, Joseph Cheung, S. Scherer +1 more
2003Human Molecular Genetics151 citations
Semantic Scholar
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.
G. Gimelli, M. Pujana, M. Patricelli, S. Russo +7 more
2003Human Molecular Genetics143 citations Open access
Semantic Scholar
Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.
B. Rodríguez-Santiago, N. Malats, N. Rothman, L. Armengol +16 more
2010American Journal of Human Genetics130 citations Open access
Semantic Scholar
Maximizing association statistics over genetic models
J. González, J. Carrasco, F. Dudbridge, L. Armengol +2 more
2008Genetic Epidemiology113 citations
Semantic Scholar
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons
M. Pujana, M. Nadal, M. Guitart, L. Armengol +2 more
2002European Journal of Human Genetics108 citations
Semantic Scholar
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
L. Armengol, J. Nevado, C. Serra-Juhé, A. Plaja +11 more
2011Human Genetics102 citations Open access
Semantic Scholar
Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia
B. Rodríguez-Santiago, Anna Brunet, B. Sobrino, C. Serra-Juhé +13 more
2010Molecular Psychiatry92 citations Open access
Semantic Scholar
Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.
E. Saus, Anna Brunet, L. Armengol, P. Alonso +12 more
2010Journal of Psychiatric Research80 citations Open access
Semantic Scholar
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome
V. Goidts, D. Cooper, L. Armengol, W. Schempp +5 more
2006Human Genetics76 citations
Semantic Scholar
X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation
I. Madrigal, L. Rodríguez-Revenga, L. Armengol, E. González +11 more
2007BMC Genomics68 citations Open access
Semantic Scholar
A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data
J. González, B. Rodríguez-Santiago, A. Cáceres, R. Pique-Regi +4 more
2011BMC Bioinformatics58 citations Open access
Semantic Scholar
NGS‐Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine
A. Abulí, M. Boada, B. Rodríguez-Santiago, B. Coroleu +5 more
2016Human Mutation53 citations Open access
Semantic Scholar
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR
D. Trujillano, M. Ramos, Josefa González, C. Tornador +6 more
2013Journal of Medical Genetics45 citations Open access
Semantic Scholar
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing
D. Trujillano, B. Pérez, Justo González, C. Tornador +8 more
2013European Journal of Human Genetics45 citations Open access
Semantic Scholar
Identification of Copy Number Variants Defining Genomic Differences among Major Human Groups
L. Armengol, S. Villatoro, J. González, L. Pantano +4 more
2009PLoS ONE41 citations Open access
Semantic Scholar
Overexpression of the CHRNA5/A3/B4 genomic cluster in mice increases the sensitivity to nicotine and modifies its reinforcing effects
X. Gallego, S. Molas, A. Amador-Arjona, M. Marks +11 more
2011Amino Acids40 citations Open access
Semantic Scholar
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization
V. Goidts, L. Armengol, W. Schempp, J. Conroy +8 more
2006Human Genetics40 citations
Semantic Scholar
Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events.
N. Bosch, M. Cáceres, M. F. Cardone, A. Carreras +4 more
2007Human Molecular Genetics39 citations Open access
Semantic Scholar
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1
Anna Brunet, L. Armengol, D. Heine, J. Rosell +4 more
2009BMC Medical Genetics37 citations Open access
Semantic Scholar
Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility
X. Solé, Pilar Hernández, Miguel López de Heredia, L. Armengol +13 more
2008BMC Genomics36 citations Open access
Semantic Scholar
Genomic complexity and IGHV mutational status are key predictors of outcome of chronic lymphocytic leukemia patients with TP53 disruption
J. Delgado, I. Salaverria, T. Baumann, A. Martínez-Trillos +21 more
2014Haematologica35 citations Open access
Semantic Scholar
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome
J. Nevado, J. Rosenfeld, R. Mena, M. Palomares-Bralo +35 more
2015European Journal of Human Genetics33 citations Open access
Semantic Scholar
Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism
N. Bosch, Marta Morell, I. Ponsa, J. Mercader +2 more
2009PLoS ONE32 citations Open access
Semantic Scholar
Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy
L. Rodríguez-Revenga, I. Madrigal, L. S. Alkhalidi, L. Armengol +4 more
2007American Journal of Medical Genetics. Part A30 citations
Semantic Scholar
Detection of chromothripsis‐like patterns with a custom array platform for chronic lymphocytic leukemia
I. Salaverria, D. Martín-Garcia, C. López, G. Clot +20 more
2015Genes, Chromosomes and Cancer29 citations Open access
Semantic Scholar
On the association between chromosomal rearrangements and genic evolution in humans and chimpanzees
T. Marquès-Bonet, Jesús Sánchez-Ruíz, L. Armengol, R. Khaja +5 more
2007Genome Biology29 citations Open access
Semantic Scholar
Accounting for uncertainty when assessing association between copy number and disease: a latent class model
J. González, I. Subirana, G. Escaramís, Solymar Peraza +3 more
2009BMC Bioinformatics27 citations Open access
Semantic Scholar
Murine segmental duplications are hot spots for chromosome and gene evolution.
L. Armengol, T. Marquès-Bonet, Joseph Cheung, R. Khaja +4 more
2005Genomics27 citations Open access
Semantic Scholar
Human nuclear transcription factor gene CREM: Genomic organization, mutation screening, and association analysis in panic disorder
K. Domschke, G. Kuhlenbäumer, A. Schirmacher, C. Lorenzi +19 more
2003American Journal of Medical Genetics Part B: Neuropsychiatric Genetics27 citations
Semantic Scholar
High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders
M. Viñas-Jornet, S. Esteba-Castillo, N. Baena, Núria Ribas-Vidal +8 more
2018Behavior Genetics25 citations Open access
Semantic Scholar
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Charlotte Gehin, M. A. Lone, Winston Lee, Laura Capolupo +81 more
2023Journal of Clinical Investigation24 citations Open access
Semantic Scholar
Description of the smallest critical region for Dandy–Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32)
I. Mademont-Soler, Carme Morales, L. Armengol, A. Soler +1 more
2010American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy
A. T. Marcos, Elena Martín-Doncel, Patricia Morejón-García, Í. Marcos-Alcalde +5 more
2020Annals of Clinical and Translational Neurology20 citations Open access
Semantic Scholar
Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA)
J. González, J. Carrasco, L. Armengol, S. Villatoro +3 more
2008BMC Bioinformatics18 citations Open access
Semantic Scholar
Hepatic accumulation of S-adenosylmethionine in hamsters with non-alcoholic fatty liver disease associated with metabolic syndrome under selenium and vitamin E deficiency.
Josep Maria Del Bas, B. Rodríguez, F. Puiggròs, Sílvia Mariné +5 more
2017Clinical science17 citations
Semantic Scholar
Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome
J. Arranz, I. Madrigal, E. Riudor, L. Armengol +1 more
2007Journal of Inherited Metabolic Disease16 citations
Semantic Scholar
Screening of dementia genes by whole-exome sequencing in Spanish patients with early-onset dementia: likely pathogenic, uncertain significance and risk variants.
Ó. Ramos-Campoy, A. Antonell, Neus Falgàs, M. Balasa +12 more
2020Neurobiology of Aging15 citations
Semantic Scholar
Characterization of a 5.8-Mb Interstitial Deletion of Chromosome 3p in a Girl with 46,XX,inv(7)dn Karyotype and Phenotypic Abnormalities
Carme Morales, I. Mademont-Soler, L. Armengol, M. Milà +4 more
2009Cytogenetic and Genome Research15 citations
Semantic Scholar
Further delineation of the phenotype caused by loss of function mutations in PRMT7.
I. Valenzuela, María Segura-Puimedon, B. Rodríguez-Santiago, Paula Fernández-Álvarez +3 more
2019European Journal of Medical Genetics14 citations
Semantic Scholar
CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries
María D. Ramos, Laìa Masvidal, J. Giménez, E. Bieth +4 more
2010Annals of Human Genetics11 citations
Semantic Scholar
Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening
Lingling Xie, Miranda J. McDaniel, Riley E. Perszyk, Sukhan Kim +14 more
2023Cellular and Molecular Life Sciences10 citations Open access
Semantic Scholar

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