Víctor Martinez-Glez

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Pablo LapunzinaProfessor of Human Genetics; Hospital Universitario La Paz and CIBERER Researcher; INGEMMVerified email at salud.madrid.org
Sixto García-MiñaúrClinical Geneticist, Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario LaVerified email at salud.madrid.org
Julian NevadoFEA, Responsable de Genómica, INGEMM. Hospital Universitario La PazVerified email at salud.madrid.org
Elena VallespinINGEMM - Hospital Universitario La PazVerified email at salud.madrid.org
juan carlos lopez gutierrezassociate professor of pediatricsVerified email at uam.es
Jair TenorioGenetista molecularVerified email at salud.madrid.org
José Antonio Caparrós-MartínResearch Fellow, Telethon Kids InstituteVerified email at telethonkids.org.au
Samia A.TemtamyProfessor of Human Genetics,National Research CenterVerified email at nrc.com
Fernando Santos-SimarroMD, INGEMM, Hospital Universitario La Paz, Madrid, SpainVerified email at salud.madrid.org
Kristina IbáñezSenior data scientist in genomicsVerified email at qmul.ac.uk
Karen E. HeathClinical molecular geneticist & Senior researcher, INGEMM, IdiPAZ, Hospital Universitario la PazVerified email at salud.madrid.org
Khalda AmrProfessor of Medical Molecular Genetics, National Research Center, EgyptVerified email at nrc.sci.eg
encarna guillen-navarroHospital Clínico Universitario V. Arrixaca. IMIB-Arrixaca. Universidad de Murcia. CIBERER-ISCIIIVerified email at carm.es
Verónica Pulido SanzUniversidad Autónoma de MadridVerified email at uam.es
Angela del PozoHead of Bioinformatics Section. INGEMM - Hospital Universitario La Paz. MadridVerified email at salud.madrid.org
Carmen AyusoJefe de Servicio de Genetica Hospital Universitario Fundacion Jimenez DiazVerified email at fjd.es
Heloisa do Nascimento de Moura Men...Docente ISCO, Universidade Federal do Oeste do ParáVerified email at ufopa.edu.br
Alfonso del Pozoprofesor titular de farmaia y trecnologia farmaceutica (UB)Verified email at ub.edu
Nuria VilaboaUniversity Hospital La Paz-IdiPAZ, Madrid, SpainVerified email at salud.madrid.org
Guiomar Perez de NanclaresInstituto Investigación Sanitaria Bioaraba, Hospital Universitario Araba, OsakidetzaVerified email at osakidetza.eus

Víctor Martinez-Glez

Center for Genomic Medicine, Parc Taulí Hospital Universitari, I3PT

Verified email at tauli.cat

Medical Genetics


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Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta P Lapunzina, M Aglan, S Temtamy, JA Caparrós-Martín, M Valencia, ... The American Journal of Human Genetics 87 (1), 110-114, 2010	339	2010
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta V Martínez‐Glez, M Valencia, JA Caparrós‐Martín, M Aglan, S Temtamy, ... Human mutation 33 (2), 343-350, 2012	241	2012
New microdeletion and microduplication syndromes: A comprehensive review J Nevado, R Mergener, M Palomares-Bralo, KR Souza, E Vallespín, ... Genetics and molecular biology 37, 210-219, 2014	124	2014
Mutations in PLOD2 cause autosomal‐recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum MT Puig‐Hervás, S Temtamy, M Aglan, M Valencia, V Martínez‐Glez, ... Human mutation 33 (10), 1444-1449, 2012	114	2012
Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly L Rodriguez-Laguna, N Agra, K Ibañez, G Oliva-Molina, G Gordo, ... Journal of Experimental Medicine 216 (2), 407-418, 2019	108	2019
Genetic and epigenetic alteration of the NF2 gene in sporadic meningiomas J Lomas, MJ Bello, D Arjona, ME Alonso, V Martinez‐Glez, I Lopez‐Marin, ... Genes, Chromosomes and Cancer 42 (3), 314-319, 2005	104	2005
Simpson-Golabi-Behmel syndrome types I and II J Tenorio, P Arias, V Martínez-Glez, F Santos, S García-Miñaur, J Nevado, ... Orphanet Journal of Rare Diseases 9, 1-8, 2014	90	2014
Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria V Martínez‐Glez, V Romanelli, MA Mori, R Gracia, M Segovia, ... American Journal of Medical Genetics Part A 152 (12), 3101-3106, 2010	79	2010
CDKN1C (p57^Kip2) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms V Romanelli, A Belinchon, S Benito‐Sanz, V Martínez‐Glez, ... American Journal of Medical Genetics Part A 152 (6), 1390-1397, 2010	76	2010
A deletion and a duplication in distal 22q11. 2 deletion syndrome region. Clinical implications and review L Fernández, J Nevado, F Santos, D Heine-Suñer, V Martinez-Glez, ... BMC Medical Genetics 10, 1-13, 2009	71	2009
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype L Rodriguez-Laguna, K Ibañez, G Gordo, S Garcia-Minaur, ... Genetics in Medicine 20 (8), 882-889, 2018	69	2018
CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith–Wiedemann syndrome (BWS) patients V Romanelli, A Belinchon, A Campos-Barros, KE Heath, S Garcia-Minaur, ... Placenta 30 (6), 551-554, 2009	56	2009
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations JA Caparrós‐Martin, M Valencia, V Pulido, V Martínez‐Glez, ... American Journal of Medical Genetics Part A 161 (6), 1354-1369, 2013	55	2013
Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques V Romanelli, HNM Meneses, L Fernández, V Martínez-Glez, ... European journal of human genetics 19 (4), 416-421, 2011	55	2011
mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review G Gordo, J Tenorio, P Arias, F Santos‐Simarro, S García‐Miñaur, ... Clinical genetics 93 (4), 762-775, 2018	53	2018
Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta E Guillén‐Navarro, MJ Ballesta‐Martínez, M Valencia, AM Bueno, ... American journal of medical genetics Part A 164 (5), 1136-1142, 2014	52	2014
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta JA Caparros‐Martin, MS Aglan, S Temtamy, GA Otaify, M Valencia, ... Molecular genetics & genomic medicine 5 (1), 28-39, 2017	51	2017
Characterization of a 8q21. 11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype M Palomares, A Delicado, E Mansilla, ML de Torres, E Vallespín, ... The American Journal of Human Genetics 89 (2), 295-301, 2011	49	2011
Clinical and molecular analyses of Beckwith–Wiedemann syndrome: comparison between spontaneous conception and assisted reproduction techniques J Tenorio, V Romanelli, A Martin‐Trujillo, GM Fernández, M Segovia, ... American journal of medical genetics Part A 170 (10), 2740-2749, 2016	46	2016
A six-attribute classification of geneticmosaicism V Martínez-Glez, J Tenorio, J Nevado, G Gordo, L Rodríguez-Laguna, ... Genetics in Medicine 22 (11), 1743-1757, 2020	44	2020

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