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Page 1
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Riley LG, Rudinger-Thirion J, Frugier M, Wilson M, Luig M, Alahakoon TI, Nixon CY, Kirk EP, Roscioli T, Lunke S, Stark Z, Wierenga KJ, Palle S, Walsh M, Higgs E, Arbuckle S, Thirukeswaran S, Compton AG, Thorburn DR, Christodoulou J. Riley LG, et al. Among authors: higgs e. Hum Mutat. 2020 Aug;41(8):1425-1434. doi: 10.1002/humu.24050. Hum Mutat. 2020. PMID: 32442335
ALPK3 heterozygous truncating variants cause late-onset hypertrophic cardiomyopathy with frequent apical involvement and apical aneurysm.
Busse L, Huth EA, Abraham MR, Abraham T, Padmanabhan A, Wojciak J, Wright G, Aatre R, Campagna R, Jackson E, Kreykes S, Lane K, Sawyer L, Stevens C, Thomas M, VanDyke R, Vedantham V, Higgs EJ. Busse L, et al. Among authors: higgs ej. medRxiv [Preprint]. 2024 Nov 15:2024.11.14.24317359. doi: 10.1101/2024.11.14.24317359. medRxiv. 2024. PMID: 39606411 Free PMC article. Preprint.
ACTIV trials: cross-trial lessons learned for master protocol implementation.
Keshtkar-Jahromi M, Adam SJ, Brar I, Chung LK, Currier JS, Daar ES, Davey VJ, Denning ET, Gelijns AC, Higgs ES, Jagannathan P, Javan AC, Jensen TO, Jilg N, Kalomenidis I, Kim P, Nayak SU, Newell M, Taiwo BO, Yokum T, Delph Y. Keshtkar-Jahromi M, et al. Among authors: higgs es. J Clin Transl Sci. 2024 Oct 15;8(1):e152. doi: 10.1017/cts.2024.507. eCollection 2024. J Clin Transl Sci. 2024. PMID: 39540114 Free PMC article. Review.
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Genet Med. 2024 Oct 24;27(2):101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free article.
Preparing better: Accelerating COVID-19 Therapeutic Interventions and Vaccines (ACTIV) therapeutics trials lessons learned: A call to the future.
Adam SJ, Buchman TG, Currier JS, Draghia-Akli R, Fessel JP, Higgs ES, Hughes EA, LaVange L, Menetski JP, Read SW, Rosenberg Y, Tressler R; ACTIV Therapeutics-Clinical Working Group. Adam SJ, et al. Among authors: higgs es. J Clin Transl Sci. 2024 Oct 15;8(1):e150. doi: 10.1017/cts.2024.178. eCollection 2024. J Clin Transl Sci. 2024. PMID: 39478782 Free PMC article. Review.
ACTIV trials: Lessons learned in trial design in the setting of an emergent pandemic.
Keshtkar-Jahromi M, Anstrom KJ, Barkauskas C, Brown SM, Daar ES, Fischer W, Gibbs KW, Higgs ES, Hughes MD, Jagannathan P, LaVange L, Lindsell CJ, Nayak SU, Paredes R, Parmar M, Peltan ID, Proschan M, Shotwell MS, Vock DM, Yokum T, Adam SJ. Keshtkar-Jahromi M, et al. Among authors: higgs es. J Clin Transl Sci. 2024 Oct 15;8(1):e151. doi: 10.1017/cts.2024.1. eCollection 2024. J Clin Transl Sci. 2024. PMID: 39478775 Free PMC article. Review.
182 results