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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.
Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.
Dhawan A, Baitamouni S, Liu D, Busch R, Klaas P, Frazier TW, Srivastava S, Parikh S, Hsich GE, Friedman NR, Ritter DM, Hardan AY, Martinez-Agosto JA, Sahin M, Eng C. Dhawan A, et al. Among authors: ritter dm. Ann Clin Transl Neurol. 2024 May;11(5):1301-1309. doi: 10.1002/acn3.52046. Epub 2024 Mar 19. Ann Clin Transl Neurol. 2024. PMID: 38501559 Free PMC article.
Deep sequencing of proteotoxicity modifier genes uncovers a Presenilin-2/beta-amyloid-actin genetic risk module shared among alpha-synucleinopathies.
Nazeen S, Wang X, Zielinski D, Lam I, Hallacli E, Xu P, Ethier E, Strom R, Zanella CA, Nithianandam V, Ritter D, Henderson A, Saurat N, Afroz J, Nutter-Upham A, Benyamini H, Copty J, Ravishankar S, Morrow A, Mitchel J, Neavin D, Gupta R, Farbehi N, Grundman J, Myers RH, Scherzer CR, Trojanowski JQ, Van Deerlin VM, Cooper AA, Lee EB, Erlich Y, Lindquist S, Peng J, Geschwind DH, Powell J, Studer L, Feany MB, Sunyaev SR, Khurana V. Nazeen S, et al. Among authors: ritter d. bioRxiv [Preprint]. 2024 Mar 7:2024.03.03.583145. doi: 10.1101/2024.03.03.583145. bioRxiv. 2024. PMID: 38496508 Free PMC article. Preprint.
12-Lead ECG Reconstruction Based on Data From the First Limb Lead.
Savostin A, Koshekov K, Ritter Y, Savostina G, Ritter D. Savostin A, et al. Among authors: ritter d. Cardiovasc Eng Technol. 2024 Feb 29. doi: 10.1007/s13239-024-00719-0. Online ahead of print. Cardiovasc Eng Technol. 2024. PMID: 38424391
ProteinGym: Large-Scale Benchmarks for Protein Design and Fitness Prediction.
Notin P, Kollasch AW, Ritter D, van Niekerk L, Paul S, Spinner H, Rollins N, Shaw A, Weitzman R, Frazer J, Dias M, Franceschi D, Orenbuch R, Gal Y, Marks DS. Notin P, et al. Among authors: ritter d. bioRxiv [Preprint]. 2023 Dec 8:2023.12.07.570727. doi: 10.1101/2023.12.07.570727. bioRxiv. 2023. PMID: 38106144 Free PMC article. Preprint.
461 results