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Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases.
Pijuan J, Rodríguez-Sanz M, Natera-de Benito D, Ortez C, Altimir A, Osuna-López M, Roura M, Ugalde M, Van de Vondel L, Reina-Castillón J, Fons C, Benítez R, Nascimento A, Hoenicka J, Palau F. Pijuan J, et al. Among authors: hoenicka j. J Mol Diagn. 2021 Jan;23(1):71-90. doi: 10.1016/j.jmoldx.2020.10.006. Epub 2020 Oct 24. J Mol Diagn. 2021. PMID: 33223419 Free article.
Behavioral addictions in early-onset Parkinson disease are associated with DRD3 variants.
Castro-Martínez XH, García-Ruiz PJ, Martínez-García C, Martínez-Castrillo JC, Vela L, Mata M, Martínez-Torres I, Feliz-Feliz C, Palau F, Hoenicka J. Castro-Martínez XH, et al. Among authors: hoenicka j. Parkinsonism Relat Disord. 2018 Apr;49:100-103. doi: 10.1016/j.parkreldis.2018.01.010. Epub 2018 Jan 12. Parkinsonism Relat Disord. 2018. PMID: 29361389
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A. Carrera-García L, et al. Among authors: hoenicka j. Am J Med Genet A. 2019 Jun;179(6):915-926. doi: 10.1002/ajmg.a.61122. Epub 2019 Mar 14. Am J Med Genet A. 2019. PMID: 30868735 Review.
PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder.
Pijuan J, Ortigoza-Escobar JD, Ortiz J, Alcalá A, Calvo MJ, Cubells M, Hernando-Davalillo C, Palau F, Hoenicka J. Pijuan J, et al. Among authors: hoenicka j. Autism Res. 2021 Jun;14(6):1088-1100. doi: 10.1002/aur.2502. Epub 2021 Mar 22. Autism Res. 2021. PMID: 33749153
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.
Natera-de Benito D, Sola A, Sousa PR, Boronat S, Expósito-Escudero J, Carrera-García L, Ortez C, Jou C, Muchart J, Rebollo M, Armstrong J, Colomer J, Garcia-Cazorla À, Hoenicka J, Palau F, Nascimento A. Natera-de Benito D, et al. Among authors: hoenicka j. Pediatr Neurol. 2021 Jun;119:40-44. doi: 10.1016/j.pediatrneurol.2021.03.005. Epub 2021 Mar 26. Pediatr Neurol. 2021. PMID: 33894639
98 results