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Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Snijders Blok L, Vino A, den Hoed J, Underhill HR, Monteil D, Li H, Reynoso Santos FJ, Chung WK, Amaral MD, Schnur RE, Santiago-Sim T, Si Y, Brunner HG, Kleefstra T, Fisher SE. Snijders Blok L, et al. Among authors: reynoso santos fj. Genet Med. 2021 Mar;23(3):534-542. doi: 10.1038/s41436-020-01016-6. Epub 2020 Oct 28. Genet Med. 2021. PMID: 33110267 Free PMC article.
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF; Deciphering Developmental Disorders Study; van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM. Calpena E, et al. Among authors: reynoso santos fj. Am J Hum Genet. 2019 Apr 4;104(4):709-720. doi: 10.1016/j.ajhg.2019.02.006. Epub 2019 Mar 21. Am J Hum Genet. 2019. PMID: 30905399 Free PMC article.
Low Arginine Suggesting the Diagnosis of Mitochondrial Cardiomyopathy.
Wongkittichote P, Cook EB, Reynoso Santos FJ, Ahrens-Nicklas RC, Hong X, Ganetzky RD. Wongkittichote P, et al. Among authors: reynoso santos fj. J Appl Lab Med. 2024 Mar 1;9(2):404-407. doi: 10.1093/jalm/jfad060. J Appl Lab Med. 2024. PMID: 37883603 No abstract available.
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.
Priestley JRC, Adang LA, Drewes Williams S, Lichter-Konecki U, Menello C, Engelhardt NM, DiPerna JC, DiBoscio B, Ahrens-Nicklas RC, Edmondson AC, Reynoso Santos FJ, Ficicioglu C. Priestley JRC, et al. Among authors: reynoso santos fj. Int J Neonatal Screen. 2022 Mar 23;8(2):24. doi: 10.3390/ijns8020024. Int J Neonatal Screen. 2022. PMID: 35466195 Free PMC article.
Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome.
Nomakuchi TT, Alves CAP, Beslow LA, Zarnow D, Goyal N, Zackai EH, Reynoso Santos FJ. Nomakuchi TT, et al. Among authors: reynoso santos fj. Neuropediatrics. 2024 Feb;55(1):71-74. doi: 10.1055/a-2052-8750. Epub 2023 Mar 13. Neuropediatrics. 2024. PMID: 36914163