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De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Sajan SA, Gradisch R, Vogel FD, Coffey AJ, Salyakina D, Soler D, Jayakar P, Jayakar A, Bianconi SE, Cooper AH, Liu S, William N, Benkel-Herrenbrück I, Maiwald R, Heller C, Biskup S, Leiz S, Westphal DS, Wagner M, Clarke A, Stockner T, Ernst M, Kesari A, Krenn M. Sajan SA, et al. Among authors: bianconi se. Eur J Hum Genet. 2024 Apr 2. doi: 10.1038/s41431-024-01600-3. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38565639
Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1.
Rodriguez-Gil JL, Bianconi SE, Farhat N, Kleiner DE, Nelson M, Porter FD. Rodriguez-Gil JL, et al. Among authors: bianconi se. Am J Med Genet A. 2021 Oct;185(10):3111-3117. doi: 10.1002/ajmg.a.62382. Epub 2021 Jun 17. Am J Med Genet A. 2021. PMID: 34138521 Free PMC article.
Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome.
Dang Do AN, Baker EH, Warren KE, Bianconi SE, Porter FD. Dang Do AN, et al. Among authors: bianconi se. Am J Med Genet A. 2018 Feb;176(2):386-390. doi: 10.1002/ajmg.a.38563. Epub 2017 Dec 11. Am J Med Genet A. 2018. PMID: 29226552 Free PMC article.
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients.
Cologna SM, Shieh C, Toth CL, Cougnoux A, Burkert KR, Bianconi SE, Wassif CA, Porter FD. Cologna SM, et al. Among authors: bianconi se. Am J Med Genet A. 2016 Aug;170(8):2060-2068. doi: 10.1002/ajmg.a.37720. Epub 2016 May 5. Am J Med Genet A. 2016. PMID: 27148958 Free PMC article.
Adrenal function in Smith-Lemli-Opitz syndrome.
Bianconi SE, Conley SK, Keil MF, Sinaii N, Rother KI, Porter FD, Stratakis CA. Bianconi SE, et al. Am J Med Genet A. 2011 Nov;155A(11):2732-8. doi: 10.1002/ajmg.a.34271. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990131 Free PMC article.
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C.
Yanjanin NM, Vélez JI, Gropman A, King K, Bianconi SE, Conley SK, Brewer CC, Solomon B, Pavan WJ, Arcos-Burgos M, Patterson MC, Porter FD. Yanjanin NM, et al. Among authors: bianconi se. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):132-40. doi: 10.1002/ajmg.b.30969. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19415691 Free PMC article.