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Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, den Dunnen JT, Hassanin E, Lyman Lin W, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau EAW, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capellá G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S. Yin X, et al. Among authors: ritter d. medRxiv [Preprint]. 2024 May 4:2024.05.03.24306761. doi: 10.1101/2024.05.03.24306761. medRxiv. 2024. PMID: 38746299 Free PMC article. Preprint.
Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results.
Capal JK, Ritter DM, Franz DN, Griffith M, Currans K, Kent B, Bebin EM, Northrup H, Koenig MK, Mizuno T, Vinks AA, Galandi SL, Zhang W, Setchell KDR, Kremer KM, Prada CM, Greiner HM, Holland-Bouley K, Horn PS, Krueger DA. Capal JK, et al. Among authors: ritter dm. Ann Child Neurol Soc. 2024 Jun;2(2):106-119. doi: 10.1002/cns3.20070. Epub 2024 Apr 22. Ann Child Neurol Soc. 2024. PMID: 39726432 Free PMC article.
Design and operation of a whole-body MRI scanner without RF shielding.
Biber S, Kannengiesser S, Nistler J, Braun M, Blaess S, Gebhardt M, Grodzki D, Ritter D, Seegerer G, Vester M, Schneider R. Biber S, et al. Among authors: ritter d. Magn Reson Med. 2024 Nov 11. doi: 10.1002/mrm.30374. Online ahead of print. Magn Reson Med. 2024. PMID: 39529403
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X, Richardson M, Laner A, Shi X, Ognedal E, Vasta V, Hansen TVO, Pineda M, Ritter D, de Dunnen J, Hassanin E, Lin WL, Borras E, Krahn K, Nordling M, Martins A, Mahmood K, Nadeau E, Beshay V, Tops C, Genuardi M, Pesaran T, Frayling IM, Capellá G, Latchford A, Tavtigian SV, Maj C, Plon SE, Greenblatt MS, Macrae FA, Spier I, Aretz S. Yin X, et al. Among authors: ritter d. Am J Hum Genet. 2024 Nov 7;111(11):2427-2443. doi: 10.1016/j.ajhg.2024.09.002. Epub 2024 Oct 1. Am J Hum Genet. 2024. PMID: 39357517 Free PMC article.
478 results