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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.
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.
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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.
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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.
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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
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