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Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
Szigety KM, Crowley TB, Gaiser KB, Chen EY, Priestley JRC, Williams LS, Rangu SA, Wright CM, Adusumalli P, Ahrens-Nicklas RC, Calderon B, Cuddapah SR, Edmondson A, Ficicioglu C, Ganetzky R, Kalish JM, Krantz ID, McDonald-McGinn DM, Medne L, Muraresku C, Pyle LC, Zackai EH, Campbell IM, Sheppard SE. Szigety KM, et al. Among authors: edmondson a. Pediatrics. 2022 Jul 1;150(1):e2021054520. doi: 10.1542/peds.2021-054520. Pediatrics. 2022. PMID: 35642503 Free PMC article.
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID. Izumi K, et al. Among authors: edmondson ac. Nat Genet. 2015 Apr;47(4):338-44. doi: 10.1038/ng.3229. Epub 2015 Mar 2. Nat Genet. 2015. PMID: 25730767 Free PMC article.
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
Ganetzky RD, Bloom K, Ahrens-Nicklas R, Edmondson A, Deardorff MA, Bennett MJ, Ficicioglu C. Ganetzky RD, et al. Among authors: edmondson a. JIMD Rep. 2016;30:33-37. doi: 10.1007/8904_2016_538. Epub 2016 Feb 27. JIMD Rep. 2016. PMID: 26920905 Free PMC article.
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME. Lin AE, et al. Am J Med Genet A. 2016 Oct;170(10):2617-31. doi: 10.1002/ajmg.a.37739. Epub 2016 Jun 14. Am J Med Genet A. 2016. PMID: 27302097 Review.
Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
Long A, Sinkovskaya ES, Edmondson AC, Zackai E, Schrier Vergano SA. Long A, et al. Among authors: edmondson ac. Am J Med Genet A. 2016 Dec;170(12):3333-3337. doi: 10.1002/ajmg.a.37956. Epub 2016 Aug 29. Am J Med Genet A. 2016. PMID: 27568880
Overgrowth Syndromes.
Edmondson AC, Kalish JM. Edmondson AC, et al. J Pediatr Genet. 2015 Sep;4(3):136-43. doi: 10.1055/s-0035-1564440. Epub 2015 Sep 25. J Pediatr Genet. 2015. PMID: 27617124 Free PMC article. Review.
Erratum.
Edmondson AC, Salant J, Ierardi-Curto LA, Ficicioglu C. Edmondson AC, et al. JIMD Rep. 2017;33:109-110. doi: 10.1007/8904_2017_587. JIMD Rep. 2017. PMID: 28409479 Free PMC article. No abstract available.
149 results