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Page 1
A Randomized Trial Comparing Inhaled Insulin Plus Basal Insulin Versus Usual Care in Adults With Type 1 Diabetes.
Hirsch IB, Beck RW, Marak MC, Kudva Y, Akturk HK, Bhargava A, Codorniz K, Diner J, Aleppo G, Blevins T, Levy CJ, Raskin P, Castorino K, Manessis A, Pickering D, Steenkamp DW, Weinstock RS, Bode BW, Hamdy O, Nguyen QT, Kipnes M, Ruedy KJ, Desjardins D, Haider Z, Jacobson C, Lee S, Buse JB, Klein KR, O'Malley G, Church MM, Mottalib A, Baran JD, Kurek C, Rizvi S, Donahue C, Tamarez D, Atakov Castillo A, Borgman S, Frey S, Calhoun P; INHALE-3 Study Group. Hirsch IB, et al. Diabetes Care. 2024 Dec 6:dc241832. doi: 10.2337/dc24-1832. Online ahead of print. Diabetes Care. 2024. PMID: 39641970
Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration.
Koriath CAM, Guntoro F, Norsworthy P, Dolzhenko E, Eberle M, Hensman Moss DJ, Flower M, Hummerich H, Rosser AE, Tabrizi SJ, Mead S, Wild EJ. Koriath CAM, et al. Among authors: dolzhenko e. J Neurol Neurosurg Psychiatry. 2024 Oct 23:jnnp-2024-333602. doi: 10.1136/jnnp-2024-333602. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 39443079 Free article.
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.
Jadhav B, Garg P, van Vugt JJFA, Ibanez K, Gagliardi D, Lee W, Shadrina M, Mokveld T, Dolzhenko E, Martin-Trujillo A, Gies SJ, Altman G, Rocca C, Barbosa M, Jain M, Lahiri N, Lachlan K, Houlden H, Paten B; Genomics England Research Consortium; Project MinE ALS Sequencing Consortium; Veldink J, Tucci A, Sharp AJ. Jadhav B, et al. Among authors: dolzhenko e. Nat Genet. 2024 Nov;56(11):2322-2332. doi: 10.1038/s41588-024-01917-1. Epub 2024 Sep 23. Nat Genet. 2024. PMID: 39313615
A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree.
Porubsky D, Dashnow H, Sasani TA, Logsdon GA, Hallast P, Noyes MD, Kronenberg ZN, Mokveld T, Koundinya N, Nolan C, Steely CJ, Guarracino A, Dolzhenko E, Harvey WT, Rowell WJ, Grigorev K, Nicholas TJ, Oshima KK, Lin J, Ebert P, Watkins WS, Leung TY, Hanlon VCT, McGee S, Pedersen BS, Goldberg ME, Happ HC, Jeong H, Munson KM, Hoekzema K, Chan DD, Wang Y, Knuth J, Garcia GH, Fanslow C, Lambert C, Lee C, Smith JD, Levy S, Mason CE, Garrison E, Lansdorp PM, Neklason DW, Jorde LB, Quinlan AR, Eberle MA, Eichler EE. Porubsky D, et al. Among authors: dolzhenko e. bioRxiv [Preprint]. 2024 Aug 5:2024.08.05.606142. doi: 10.1101/2024.08.05.606142. bioRxiv. 2024. PMID: 39149261 Free PMC article. Preprint.
TRGT-denovo: accurate detection of de novo tandem repeat mutations.
Mokveld T, Dolzhenko E, Dashnow H, Nicholas TJ, Sasani T, van der Sanden B, Jadhav B, Pedersen B, Kronenberg Z, Tucci A, Sharp AJ, Quinlan AR, Gilissen C, Hoischen A, Eberle MA. Mokveld T, et al. Among authors: dolzhenko e. bioRxiv [Preprint]. 2024 Jul 19:2024.07.16.600745. doi: 10.1101/2024.07.16.600745. bioRxiv. 2024. PMID: 39071386 Free PMC article. Preprint.
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.
Alvarez Jerez P, Daida K, Grenn FP, Malik L, Miano-Burkhardt A, Makarious MB, Ding J, Gibbs JR, Moore A, Reed X, Nalls MA, Shah S, Mahmoud M, Sedlazeck FJ, Dolzhenko E, Park M, Iwaki H, Casey B, Ryten M, Blauwendraat C, Singleton AB, Billingsley KJ. Alvarez Jerez P, et al. Among authors: dolzhenko e. NPJ Parkinsons Dis. 2024 Jul 26;10(1):136. doi: 10.1038/s41531-024-00749-4. NPJ Parkinsons Dis. 2024. PMID: 39060285 Free PMC article.
A Randomized Comparison of Postprandial Glucose Excursion Using Inhaled Insulin Versus Rapid-Acting Analog Insulin in Adults With Type 1 Diabetes Using Multiple Daily Injections of Insulin or Automated Insulin Delivery.
Hirsch IB, Beck RW, Marak MC, Calhoun P, Mottalib A, Salhin A, Manessis A, Coviello AD, Bhargava A, Thorsell A, Atakov Castillo A, Bode BW, Levister C, Levy CJ, Donahue C, Cordero C, Beatson C, Langel CR, Jacobson C, Kurek C, Cruse D, Pickering D, Tamarez D, Steenkamp DW, Desjardins D, Aleppo G, O'Malley G, Akturk HK, Diner J, Baran JD, Buse JB, Ruedy K, Codorniz K, Klein KR, Castorino K, Jordan LF, Kipnes M, Church MM, Hamdy O, Raskin P, Nguyen QT, Weinstock RS, Lee S, Rizvi S, Bzdick S, Ghorbani Rodriguez T, Salah T, Blevins T, Kudva YC, Haider Z; INHALE-3 Study Group. Hirsch IB, et al. Diabetes Care. 2024 Sep 1;47(9):1682-1687. doi: 10.2337/dc24-0838. Diabetes Care. 2024. PMID: 39042575 Free PMC article. Clinical Trial.
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IRL, Dicaire MJ, Spurdens G, Matos-Rodrigues G, Stevanovski I, Scriba CK, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Agarwal A, Peter C, Hasson D, Tsankova NM, Dewar K, Lamont PJ, Laing NG, Renaud M, Houlden H, Synofzik M, Usdin K, Nussenzweig A, Napierala M, Chen Z, Jiang H, Deveson IW, Ravenscroft G, Akbarian S, Eberle MA, Boycott KM, Pastinen T; All of Us Research Program Long Read Working Group; Brais B, Zuchner S, Danzi MC. Pellerin D, et al. Among authors: dolzhenko e. Nat Genet. 2024 Jul;56(7):1366-1370. doi: 10.1038/s41588-024-01808-5. Epub 2024 Jun 27. Nat Genet. 2024. PMID: 38937606
Analysis and benchmarking of small and large genomic variants across tandem repeats.
English AC, Dolzhenko E, Ziaei Jam H, McKenzie SK, Olson ND, De Coster W, Park J, Gu B, Wagner J, Eberle MA, Gymrek M, Chaisson MJP, Zook JM, Sedlazeck FJ. English AC, et al. Among authors: dolzhenko e. Nat Biotechnol. 2024 Apr 26. doi: 10.1038/s41587-024-02225-z. Online ahead of print. Nat Biotechnol. 2024. PMID: 38671154
59 results