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De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
Okur V, Cho MT, Henderson L, Retterer K, Schneider M, Sattler S, Niyazov D, Azage M, Smith S, Picker J, Lincoln S, Tarnopolsky M, Brady L, Bjornsson HT, Applegate C, Dameron A, Willaert R, Baskin B, Juusola J, Chung WK. Okur V, et al. Among authors: sattler s. Hum Genet. 2016 Jul;135(7):699-705. doi: 10.1007/s00439-016-1661-y. Epub 2016 Apr 5. Hum Genet. 2016. PMID: 27048600
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Õunap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carré W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogné B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bézieau S, Koenig M, Davis EE, Pasquier L, Küry S. Guissart C, et al. Among authors: sattler s. Am J Hum Genet. 2018 May 3;102(5):744-759. doi: 10.1016/j.ajhg.2018.02.021. Epub 2018 Apr 12. Am J Hum Genet. 2018. PMID: 29656859 Free PMC article.
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.
Srour M, Caron V, Pearson T, Nielsen SB, Lévesque S, Delrue MA, Becker TA, Hamdan FF, Kibar Z, Sattler SG, Schneider MC, Bitoun P, Chassaing N, Rosenfeld JA, Xia F, Desai S, Roeder E, Kimonis V, Schneider A, Littlejohn RO, Douzgou S, Tremblay A, Michaud JL. Srour M, et al. Among authors: sattler sg. Hum Mutat. 2016 Aug;37(8):786-93. doi: 10.1002/humu.23004. Epub 2016 May 9. Hum Mutat. 2016. PMID: 27120018
Genetic modification of corneal neovascularization in Dstn (corn1) mice.
Kawakami-Schulz SV, Sattler SG, Doebley AL, Ikeda A, Ikeda S. Kawakami-Schulz SV, et al. Among authors: sattler sg. Mamm Genome. 2013 Oct;24(9-10):349-57. doi: 10.1007/s00335-013-9468-9. Epub 2013 Aug 9. Mamm Genome. 2013. PMID: 23929036 Free PMC article.
Lower Recurrence Rates of Atrial Fibrillation and MACE Events After Early Compared to Late Ablation: A Danish Nationwide Register Study.
Tønnesen J, Ruwald MH, Pallisgaard J, Rasmussen PV, Johannessen A, Hansen J, Worck RH, Zörner CR, Riis-Vestergaard L, Middelfart C, Sørensen SK, Sattler S, Gislason G, Hansen ML. Tønnesen J, et al. Among authors: sattler s. J Am Heart Assoc. 2024 Apr 2;13(7):e032722. doi: 10.1161/JAHA.123.032722. Epub 2024 Mar 27. J Am Heart Assoc. 2024. PMID: 38533962 Free article.
Murine MHC-Deficient Nonobese Diabetic Mice Carrying Human HLA-DQ8 Develop Severe Myocarditis and Myositis in Response to Anti-PD-1 Immune Checkpoint Inhibitor Cancer Therapy.
Racine JJ, Bachman JF, Zhang JG, Misherghi A, Khadour R, Kaisar S, Bedard O, Jenkins C, Abbott A, Forte E, Rainer P, Rosenthal N, Sattler S, Serreze DV. Racine JJ, et al. Among authors: sattler s. J Immunol. 2024 Apr 15;212(8):1287-1306. doi: 10.4049/jimmunol.2300841. J Immunol. 2024. PMID: 38426910
247 results