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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: krahn k. 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.
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: krahn k. medRxiv [Preprint]. 2024 May 4:2024.05.03.24306761. doi: 10.1101/2024.05.03.24306761. medRxiv. 2024. PMID: 38746299 Free PMC article. Preprint.
Corrigendum: Highly comparative time series analysis of oxygen saturation and heart rate to predict respiratory outcomes in extremely preterm infants (2024Physiol. Meas. 45 055025).
Qiu J, Di Fiore JM, Krishnamurthi N, Indic P, Carroll JL, Claure N, Kemp JS, Dennery PA, Ambalavanan N, Weese-Mayer DE, Maria Hibbs A, Martin RJ, Bancalari E, Hamvas A, Randall Moorman J, Lake DE, Krahn KN, Zimmet AM, Hopkins BS, Lonergan EK, Rand CM, Zadell A, Nakhmani A, Carlo WA, Laney D, Travers CP, Vanbuskirk S, D'Ugard C, Aguilar AC, Schott A, Hoffmann J, Linneman L. Qiu J, et al. Among authors: krahn kn. Physiol Meas. 2024 Oct 21;45(10). doi: 10.1088/1361-6579/ad84d4. Physiol Meas. 2024. PMID: 39436196 No abstract available.
Highly comparative time series analysis of oxygen saturation and heart rate to predict respiratory outcomes in extremely preterm infants.
Qiu J, Di Fiore JM, Krishnamurthi N, Indic P, Carroll JL, Claure N, Kemp JS, Dennery PA, Ambalavanan N, Weese-Mayer DE, Maria Hibbs A, Martin RJ, Bancalari E, Hamvas A, Randall Moorman J, Lake DE, Krahn KN, Zimmet AM, Hopkins BS, Lonergan EK, Rand CM, Zadell A, Nakhmani A, Carlo WA, Laney D, Travers CP, Vanbuskirk S, D'Ugard C, Aguilar AC, Schott A, Hoffmann J, Linneman L. Qiu J, et al. Among authors: krahn kn. Physiol Meas. 2024 Jun 3;45(5):055025. doi: 10.1088/1361-6579/ad4e91. Physiol Meas. 2024. PMID: 38772400 Free PMC article.
Maturation of cardioventilatory physiological trajectories in extremely preterm infants.
Weese-Mayer DE, Di Fiore JM, Lake DE, Hibbs AM, Claure N, Qiu J, Ambalavanan N, Bancalari E, Kemp JS, Zimmet AM, Carroll JL, Martin RJ, Krahn KN, Hamvas A, Ratcliffe SJ, Krishnamurthi N, Indic P, Dormishian A, Dennery PA, Moorman JR; Prematurity-Related Ventilatory Control (Pre-Vent) Investigators. Weese-Mayer DE, et al. Among authors: krahn kn. Pediatr Res. 2024 Mar;95(4):1060-1069. doi: 10.1038/s41390-023-02839-0. Epub 2023 Oct 19. Pediatr Res. 2024. PMID: 37857848 Free PMC article.
38 results