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DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.
Vos N, Reilly J, Elting MW, Campeau PM, Coman D, Stark Z, Tan TY, Amor DJ, Kaur S, StJohn M, Morgan AT, Kamien BA, Patel C, Tedder ML, Merla G, Prontera P, Castori M, Muru K, Collins F, Christodoulou J, Smith J, Zeev BB, Murgia A, Leonardi E, Esber N, Martinez-Monseny A, Casas-Alba D, Wallis M, Mannens M, Levy MA, Relator R, Alders M, Sadikovic B. Vos N, et al. Among authors: martinez monseny a. Epigenomics. 2023 Mar;15(6):351-367. doi: 10.2217/epi-2023-0079. Epub 2023 May 30. Epigenomics. 2023. PMID: 37249002
[Pseudoachondroplasia: Descriptions of a de novo and familial case].
Casas-Alba D, Fernández López A, Gean Molins E, Suero Toledano P, Martínez-Monseny A. Casas-Alba D, et al. An Pediatr (Engl Ed). 2018 Jul;89(1):60-61. doi: 10.1016/j.anpedi.2017.06.003. Epub 2017 Jul 8. An Pediatr (Engl Ed). 2018. PMID: 28694007 Free article. Spanish. No abstract available.
Okur-Chung neurodevelopmental syndrome in a patient from Spain.
Martinez-Monseny AF, Casas-Alba D, Arjona C, Bolasell M, Casano P, Muchart J, Ramos F, Martorell L, Palau F, García-Alix A, Serrano M. Martinez-Monseny AF, et al. Am J Med Genet A. 2020 Jan;182(1):20-24. doi: 10.1002/ajmg.a.61405. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729156
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.
Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong J, Prat C, Martínez-Monseny AF, Palau F, Liu P, Adams D; Undiagnosed Diseases Network; Lalani S, Rosenfeld JA, Burrage LC. Brooks D, et al. Among authors: martinez monseny af. Hum Genet. 2024 Mar;143(3):279-291. doi: 10.1007/s00439-024-02657-2. Epub 2024 Mar 7. Hum Genet. 2024. PMID: 38451290
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny AF, Casas-Alba D, Grinberg D, Balcells S, Serrano M, Rabionet R, Martin MA, Urreizti R. Palma-Milla C, et al. Among authors: martinez monseny af. Pediatr Neurol. 2024 Mar 14;155:8-17. doi: 10.1016/j.pediatrneurol.2024.03.008. Online ahead of print. Pediatr Neurol. 2024. PMID: 38569228
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