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Antonio Federico Martínez‐Monseny

Observed names: A Martínez-Monseny, A. Martínez-Monseny, A.F. MARTÍNEZ‐MONSENY, A.F. Martínez-Monseny, A.F. Martínez-Montseny, AF Martínez-Monseny, AF. Martinez-Monseny, Antonio F Martinez-Monseny, Antonio F Martinez‐Monseny, Antonio F. Martinez-Monseny, Antonio F. Martinez‐Monseny, Antonio F. Martínez-Monseny, Antonio F. Martínez‐Monseny, Antonio Federico Martínez Montseny, Antonio Federico Martínez-Monseny, Antonio Martinez-Monseny, Antonio Martinez‐Monseny, Antonio Martínez-Monseny, Antonio Martínez‐Monseny, Martinez Monseny , Antonio, Martinez-Monseny AF, Martinez-Monseny, Antonio, Martinez-Monseny, Antonio F, Martinez-Monseny, Antonio F.
Observed institutions: Hospital Sant Joan de Déu Barcelona, University of Freiburg, Garrahan Hospital, University Medical Center Freiburg, Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública, Institut de Recerca Sant Joan de Déu, Universitat de Barcelona
ORCID: 0000-0002-0960-3153
Observed ORCID: 0000-0002-0960-3153
OpenAlex ID: A5009386751
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
2019 · Ruqaiah Altassan, Romain Péanne, et al. · Journal of Inherited Metabolic Disease · 149
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)
2019 · Antonio F. Martínez‐Monseny, Mercè Bolasell, et al. · Annals of Neurology · 72
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
2025 · Daniel Greene, Koenraad De Wispelaere, et al. · Nature Genetics · 60
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Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations
2018 · Dídac Casas-Alba, Antonio Martínez-Monseny, et al. · Human Mutation · 60
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Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy
2018 · Mercè Izquierdo-Serra, Antonio Martínez-Monseny, et al. · International Journal of Molecular Sciences · 53
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MECP2-Related Disorders in Males
2021 · Ainhoa Pascual-Alonso, Antonio F. Martínez-Monseny, et al. · International Journal of Molecular Sciences · 49
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The Use of Quinacrine in Nitroimidazole-resistant Giardia Duodenalis: An Old Drug for an Emerging Problem
2017 · Ana Requena-Méndez, Pilar Goñi, et al. · The Journal of Infectious Diseases · 48
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Mutation update for the SATB2 gene
2019 · Yuri A. Zarate, Katherine A. Bosanko, et al. · Human Mutation · 41
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Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
2020 · Roser Urreizti, Estrella Lopez-Martin, et al. · Orphanet Journal of Rare Diseases · 36
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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
2022 · Gemma Bullich, Leslie Matalonga, et al. · Journal of Molecular Diagnostics · 32
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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
2023 · Hellen Lesmann, Alexander Hustinx, et al. · medRxiv · 28
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Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model
2021 · Neringa Jurkute, Michele Bertacchi, et al. · Brain Communications · 26
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Molecular characterization of Spanish patients with MECP2 duplication syndrome
2020 · Ainhoa Pascual‐Alonso, Laura Blasco, et al. · Clinical Genetics · 25
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
2018 · Antonio Martinez-Monseny, Daniel Cuadras, et al. · Journal of Medical Genetics · 25
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
2022 · Elena Martínez-Cayuelas, Fiona Blanco-Kelly, et al. · Journal of Medical Genetics · 23
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Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
2020 · Yuri A. Zarate, Katherine A. Bosanko, et al. · Clinical Genetics · 21
Okur‐Chung neurodevelopmental syndrome in a patient from Spain
2019 · Antonio F. Martinez‐Monseny, Dídac Casas‐Alba, et al. · American Journal of Medical Genetics Part A · 20
Mutation of PACS1: the milder end of the spectrum
2018 · Antonio Martinez-Monseny, Mercè Bolasell, et al. · Clinical Dysmorphology · 19
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2‐CDG)
2017 · Víctor de Diego, Antonio F. Martínez‐Monseny, et al. · Journal of Inherited Metabolic Disease · 18
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
2021 · Antonio F. Martínez-Monseny, Albert Edo, et al. · International Journal of Molecular Sciences · 16
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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
2024 · Sadegheh Haghshenas, Hidde J. Bout, et al. · Human Genetics and Genomics Advances · 13
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Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood
2020 · Anna Ruiz-Llobet, Ignacio Isola, et al. · Thrombosis and Haemostasis · 9
Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study
2023 · Lourdes Vega-Hanna, Mario Sanz-Cuesta, et al. · Frontiers in Pediatrics · 8
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Dna Methylation Episignatures are Sensitive and Specific Biomarkers for Detection of Patients with Kat6A / Kat6B Variants
2023 · Niels Vos, Jack Reilly, et al. · Epigenomics · 8
Changes in Parenteral Nutrition During the First Week of Life Influence Early but Not Late Postnatal Growth in Very Low‐Birth‐Weight Infants
2016 · Montserrat Izquierdo, Antonio Federico Martínez‐Monseny, et al. · Nutrition in Clinical Practice · 8
Works count: 71
Citation count: 934
H-index: 18
I10-index: 21
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