Genotype-phenotype associations in Fanconi anemia: a literature review MO Fiesco-Roa, N Giri, LJ McReynolds, AF Best, BP Alter Blood reviews 37, 100589, 2019 | 170 | 2019 |
Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability MÓ Fiesco-Roa, B García-de Teresa, P Leal-Anaya, R van ‘t Hek, ... Frontiers in Oncology 12, 949435, 2022 | 15 | 2022 |
Microcefalia: consideraciones para el abordaje diagnóstico G Garza-Mayén, M Fiesco-Roa, S Frías, B García-de Teresa Acta Pediátrica de México 41 (5), 222-230, 2020 | 11 | 2020 |
Síndromes de falla medular hereditarios: etiología, fisiopatología, diagnóstico y tratamiento M Fiesco-Roa, A Monsivais-Orozco, A Rodríguez, S Frias, ... Acta Pediátrica de México 42 (4), 192-207, 2021 | 9 | 2021 |
Phenylalanine hydroxylase deficiency treatment and management: a systematic evidence review of the American College of Medical Genetics and Genomics (ACMG) AD Adams, MÓ Fiesco-Roa, L Wong, GP Jenkins, J Malinowski, ... Genetics in Medicine, 100358, 2023 | 7 | 2023 |
Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG P Reyes, B García-de Teresa, U Juárez, F Pérez-Villatoro, ... International Journal of Molecular Sciences 23 (4), 2334, 2022 | 7 | 2022 |
ALG1-CDG caused by non-functional alternative splicing involving a novel pathogenic complex allele CA González-Domínguez, MO Fiesco-Roa, S Gómez-Carmona, ... Frontiers in Genetics 12, 744884, 2021 | 6 | 2021 |
Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center M Vela-Amieva, MA Alcántara-Ortigoza, I Ibarra-González, ... Frontiers in Genetics 13, 993612, 2022 | 4 | 2022 |
Microcephaly: diagnostic considerations G Garza-Mayén, M Fiesco-Roa, S Frías, B García-de Teresa Acta Pediatrica de Mexico 41 (5), 222-230, 2020 | 3 | 2020 |
Dismorfología como Herramienta Clínica para el Diagnóstico Temprano de Anemia de Fanconi MO Fiesco-Roa, PG Gómez-Moreno, RM Espinosa-Curiel, A Rodríguez, ... Acta Pediátrica de México 43 (2), 129-140, 2022 | 2 | 2022 |
GestaltMatcher Database-A global reference for facial phenotypic variability in rare human diseases H Lesmann, A Hustinx, S Moosa, H Klinkhammer, E Marchi, P Caro, ... medRxiv, 2023.06. 06.23290887, 2023 | 1 | 2023 |
Dysmorphology as a clinical tool for an early diagnosis of fanconi anemia MO Fiesco-Roa, PG Gómez-Moreno, RM Espinosa-Curiel, A Rodríguez, ... Acta Pediátrica de México 43 (2), 129-140, 2022 | 1 | 2022 |
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC): A Mexican case report. A Kleinert-Altamirano, J Patricio-Villagran, M Fiesco-Roa, ... MOVEMENT DISORDERS 32, 2017 | 1 | 2017 |
GestaltMatcher Database-A global reference for facial phenotypic variability in rare human diseases TC Hsieh, H Lesmann, A Hustinx, S Moosa, E Marchi, MPC Martin, ... | | 2024 |
Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico P Leal-Anaya, TN Kimball, AL Yanez-Felix, MÓ Fiesco-Roa, ... Frontiers in Genetics 14, 1293929, 2024 | | 2024 |
P263: Genotype-phenotype associations in CASK disorders: A systematic literature review and report of three cases A Medina-Huerta, P Gómez-Moreno, G Baltazar-Escobar, M Berzunza, ... Genetics in Medicine Open 2, 101159, 2024 | | 2024 |
P191: Old school and new findings: Expansion and delineation of the dysmorphological phenotype of Fanconi anemia M Fiesco-Roa, A Venegas-Andrade, MMS de Ocariz, S Toussaint-Caire, ... Genetics in Medicine Open 2, 2024 | | 2024 |
P659: A comprehensive genotyping study in Mexican patients with Fanconi anemia identified reported, novel, and founder pathogenic variants L Torres, P Reyes, B García-de Teresa, MTV Molina, U Juárez, A Solis, ... Genetics in Medicine Open 2, 2024 | | 2024 |
Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele CA González-Domínguez, MO Fiesco-Roa, S Gómez-Carmona, ... Frontiers in Genetics 12, 777731, 2021 | | 2021 |
Inherited Bone Marrow Failure Syndromes: etiology, pathophysiology, diagnosis, and management M Fiesco-Roa, A Monsivais-Orozco, A Rodríguez, S Frías, ... Acta Pediátrica de México 42 (4), 192-207, 2021 | | 2021 |