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Miriam Aza‐Carmona

Puigvert Foundation ES

ORCID 0000-0003-4448-9541
39
Publications
936
Citations
16
H-Index
24
i10-Index
5.67
2yr Mean Cite
True
Cite/Paper
Data combined from OpenAlex . OA = OpenAlex S2 = Semantic Scholar
Verify on Google Scholar

Publication & Citation Trends

Most Cited Works

A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis OA
Sara Benito‐Sanz, N. Simon Thomas, Céline Huber, Darya Gorbenko del Blanco, Miriam Aza‐Carmona +6 more
The American Journal of Human Genetics 2005
133
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder OA
Carol-Anne Martin, Kata Sarlós, Clare V. Logan, Roshan Singh Thakur, David Parry +46 more
The American Journal of Human Genetics 2018
98
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy OA
Gabriela A. Vasques, Mariana F.A. Funari, Frederico Moraes Ferreira, Miriam Aza‐Carmona, Lucia Sentchordi +8 more
The Journal of Clinical Endocrinology & Metabolism 2017
75
Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature OA
Alfonso Hisado-Oliva, Alba Ruzafa-Martin, Lucia Sentchordi, Mariana F.A. Funari, Carolina Bezanilla-López +9 more
Genetics in Medicine 2017
67
Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature OA
Sara Benito‐Sanz, Miriam Aza‐Carmona, Amaya Rodríguez-Estevez, Ixaso Rica-Etxebarria, Ricardo Gracía +2 more
European Journal of Human Genetics 2011
51

Publications

39 total

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies PDF

Lucia Sentchordi, Sara Benito‐Sanz, Miriam Aza‐Carmona, Francisca Díaz, Silvia Modamio‐Høybjør et al. - European Journal of Endocrinology, 2021
Cited by 24 OpenAlex

Biallelic cGMP-dependent type II protein kinase gene (<i>PRKG2</i>) variants cause a novel acromesomelic dysplasia

Francisca Díaz, Saruchi Wadhwa, Maria Rodriguez‐Zabala, Somesh Kumar, Miriam Aza‐Carmona et al. - Journal of Medical Genetics, 2020
Cited by 21 OpenAlex

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

Massimo Bogliolo, Roser Pujol, Miriam Aza‐Carmona, Núria Muñoz-Subirana, Benjamín Rodríguez‐Santiago et al. - Journal of Medical Genetics, 2019
Cited by 33 OpenAlex

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder PDF

Carol-Anne Martin, Kata Sarlós, Clare V. Logan, Roshan Singh Thakur, David Parry et al. - The American Journal of Human Genetics, 2018
Cited by 98 OpenAlex

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1 PDF

Gonzalo Hernández, Marı́a José Ramı́rez, Jordi Minguillón, Paco Quiles, Gorka Ruíz de Garibay et al. - Nature Communications, 2018
Cited by 47 OpenAlex

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature PDF

Lucia Sentchordi, Miriam Aza‐Carmona, Sara Benito‐Sanz, Ana Coral Barreda Bonis, Consuelo Sánchez‐Garre et al. - Clinical Endocrinology, 2018
Cited by 42 OpenAlex

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy PDF

Gabriela A. Vasques, Mariana F.A. Funari, Frederico Moraes Ferreira, Miriam Aza‐Carmona, Lucia Sentchordi et al. - The Journal of Clinical Endocrinology & Metabolism, 2017
Cited by 75 OpenAlex

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature PDF

Alfonso Hisado-Oliva, Alba Ruzafa-Martin, Lucia Sentchordi, Mariana F.A. Funari, Carolina Bezanilla-López et al. - Genetics in Medicine, 2017
Cited by 67 OpenAlex

FGF9 mutation causes craniosynostosis along with multiple synostoses

Maria Rodriguez‐Zabala, Miriam Aza‐Carmona, Carlos I Rivera-Pedroza, Alberta Belinchón, Isabel Guerrero‐Zapata et al. - Human Mutation, 2017
Cited by 35 OpenAlex

Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia PDF

Judith Reina-Castillón, Roser Pujol, Marcos López‐Sánchez, Benjamín Rodríguez‐Santiago, Miriam Aza‐Carmona et al. - Blood Advances, 2017
Cited by 23 OpenAlex

Research Topics

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (9) Connective tissue disorders research (9) DNA Repair Mechanisms (8) Genomics and Chromatin Dynamics (6) Ubiquitin and proteasome pathways (6)

Frequent Co-Authors

KA
Karen E. Heath
12 joint publications
SA
Sara Benito‐Sanz
8 joint publications
ÁN
Ángel Campos‐Barros
7 joint publications
LU
Lucia Sentchordi
5 joint publications
JE
Jesús Argente
4 joint publications
JI
Jimena Barraza‐García
4 joint publications

Affiliations

Universitat Autònoma de Barcelona
ES 2019 - 2017
Universidad Nacional Experimental Simón Rodríguez
VE 2017 - 2017
Hospital Universitario La Paz
ES 2023 - 2011
Instituto de Salud Carlos III
ES 2022 - 2011
Hospital de Sant Pau
ES 2021 - 2021

External Profiles

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