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Ignacio Arroyo Carrera

Observed names: I Arroyo Carrera, I. Arroyo Carrera, Ignacio Arroyo-Carrera, Ignacio Arroyo‐Carrera
ORCID: 0000-0002-4506-3393
Observed ORCID: 0000-0002-4506-3393
OpenAlex ID: A5060301618
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 · 67
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Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene
2010 · A. Orrico, L. Galli, et al. · American Journal of Medical Genetics Part A · 58
Microdeletions of the 7q32.2 imprinted region are associated with Silver–Russell syndrome features
2015 · Ignacio Arroyo Carrera, María Solo de Zaldívar, et al. · American Journal of Medical Genetics Part A · 54
Probable Transmission of Brucellosis by Breast Milk
2006 · I. Arroyo Carrera, María José López Rodríguez, et al. · Journal of Tropical Pediatrics · 52
Sideropenic Dysphagia in an Adolescent
2002 · María José López Rodríguez, Pilar Robledo Andrés, et al. · Journal of Pediatric Gastroenterology and Nutrition · 37
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
2015 · Matthieu J Schlögel, Antonella Mendola, et al. · Orphanet Journal of Rare Diseases · 35
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DPAGT1‐CDG: Report of a patient with fetal hypokinesia phenotype
2012 · Ignacio Arroyo Carrera, Gert Matthijs, et al. · American Journal of Medical Genetics Part A · 33
[The Adams-Oliver syndrome in Spain: the epidemiological aspects].
1996 · M L Martínez-Frías, I Arroyo Carrera, et al. · PubMed · 32
[Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain].
1999 · I Arroyo Carrera, M L Martínez-Frías, et al. · PubMed · 17
TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum
2021 · Ignacio Arroyo Carrera, Miguel Fernández‐Burriel, et al. · Clinical Genetics · 15
Severe Neurological Phenotype in a Girl with Xp22.31 Triplication
2017 · Antonio Polo-Antúnez, Ignacio Arroyo-Carrera · Molecular Syndromology · 13
Unusual congenital abdominal wall defect and review
2003 · Ignacio Arroyo Carrera, Vicente Pitarch, et al. · American Journal of Medical Genetics Part A · 12
[Wiedemann-Beckwith syndrome: clinical and epidemiological analysis of a consecutive series of cases in Spain].
1999 · I Arroyo Carrera, M L Martínez-Frías, et al. · PubMed · 12
Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015
2016 · María Angeles García Teresa, Raquel Porto Abal, et al. · Anales de Pediatría · 11
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[Transient neonatal diabetes mellitus].
1998 · I Arroyo Carrera, J A Lozano Rodríguez, et al. · PubMed · 11
Importancia diagnóstica de los signos de hipocinesia fetal en la atrofia muscular espinal de presentación neonatal
2002 · J. González de Dios, M.L. Martínez Frías, et al. · Anales de Pediatría · 8
[The transmission of brucellosis via breast feeding. A report of 2 cases].
1998 · D Barroso Espadero, I Arroyo Carrera, et al. · PubMed · 7
Deletion 1q43‐44 in a patient with clinical diagnosis of Warburg–Micro syndrome
2015 · Ignacio Arroyo‐Carrera, María Solo de Zaldívar Tristancho, et al. · American Journal of Medical Genetics Part A · 5
[Epidemiological aspects of children of women with bicornuate uterus].
1998 · M L Martínez-Frías, E Bermejo Sánchez, et al. · PubMed · 4
Síndrome de rotura de Varsovia: una causa de microcefalia congénita y sordera neurosensorial
2023 · Ignacio Arroyo Carrera, María Solo de Zaldívar Tristancho, et al. · Revista de Neurología · 3
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RIT1: un nuevo gen causal del síndrome de Noonan
2016 · Ignacio Arroyo Carrera, María Solo de Zaldívar Tristancho, et al. · Revista de Neurología · 3
Double somatic mosaicism in Marfan syndrome
2024 · Ignacio Arroyo Carrera, Almudena Amor‐Salamanca, et al. · American Journal of Medical Genetics Part A · 2
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Síndrome de discapacidad intelectual ligada a X con macrocefalia por deleción del gen BRWD3
2024 · Ignacio Arroyo Carrera, Rafael Romero Peguero, et al. · Revista de Neurología · 2
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Hamartoma meningotelial en cuero cabelludo
2012 · P.J. García Cuesta, V. Pitarch Esteve, et al. · Anales de Pediatría · 2
Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs
2025 · Marta Sevilla-Porras, Esther Nieto-Molina, et al. · medRxiv · 1
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Works count: 41
Citation count: 501
H-index: 12
I10-index: 15
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