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De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J. Slavotinek A, et al. Among authors: sarafoglou k. Hum Mol Genet. 2017 Dec 15;26(24):4849-4860. doi: 10.1093/hmg/ddx363. Hum Mol Genet. 2017. PMID: 29036646 Free PMC article.
Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia.
Sarafoglou K, Kim MS, Lodish M, Felner EI, Martinerie L, Nokoff NJ, Clemente M, Fechner PY, Vogiatzi MG, Speiser PW, Auchus RJ, Rosales GBG, Roberts E, Jeha GS, Farber RH, Chan JL; CAHtalyst Pediatric Trial Investigators. Sarafoglou K, et al. N Engl J Med. 2024 Aug 8;391(6):493-503. doi: 10.1056/NEJMoa2404655. Epub 2024 Jun 2. N Engl J Med. 2024. PMID: 38828945 Clinical Trial.
Practice Variation among Pediatric Endocrinologists in the Dosing of Glucocorticoids in Young Children with Congenital Adrenal Hyperplasia.
Al-Rayess H, Lahoti A, Simpson LL, Palzer E, Thornton P, Heksch R, Kamboj M, Stanley T, Regelmann MO, Gupta A, Raman V, Mehta S, Geffner ME, Sarafoglou K; Pediatric Endocrine Society Drug & Therapeutics Committee. Al-Rayess H, et al. Among authors: sarafoglou k. Children (Basel). 2023 Nov 29;10(12):1871. doi: 10.3390/children10121871. Children (Basel). 2023. PMID: 38136073 Free PMC article.
Phase 3 Trial of Crinecerfont in Adult Congenital Adrenal Hyperplasia.
Auchus RJ, Hamidi O, Pivonello R, Bancos I, Russo G, Witchel SF, Isidori AM, Rodien P, Srirangalingam U, Kiefer FW, Falhammar H, Merke DP, Reisch N, Sarafoglou K, Cutler GB Jr, Sturgeon J, Roberts E, Lin VH, Chan JL, Farber RH; CAHtalyst Adult Trial Investigators. Auchus RJ, et al. Among authors: sarafoglou k. N Engl J Med. 2024 Aug 8;391(6):504-514. doi: 10.1056/NEJMoa2404656. Epub 2024 Jun 1. N Engl J Med. 2024. PMID: 38828955 Free PMC article. Clinical Trial.
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.
Garapati K, Budhraja R, Saraswat M, Kim J, Joshi N, Sachdeva GS, Jain A, Ligezka AN, Radenkovic S, Ramarajan MG, Udainiya S, Raymond K, He M, Lam C, Larson A, Edmondson AC, Sarafoglou K, Larson NB, Freeze HH, Schultz MJ, Kozicz T, Morava E, Pandey A. Garapati K, et al. Among authors: sarafoglou k. JCI Insight. 2024 Apr 8;9(7):e172509. doi: 10.1172/jci.insight.172509. JCI Insight. 2024. PMID: 38587076 Free PMC article.
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