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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Among authors: becker l. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
Two frameshift mutations in the cystic fibrosis gene.
Iannuzzi MC, Stern RC, Collins FS, Hon CT, Hidaka N, Strong T, Becker L, Drumm ML, White MB, Gerrard B, et al. Iannuzzi MC, et al. Among authors: becker l. Am J Hum Genet. 1991 Feb;48(2):227-31. Am J Hum Genet. 1991. PMID: 1990834 Free PMC article.
The Longitudinal Decline in Peak VO2 with Aging in Healthy Individuals is Associated with a Reduction in Peripheral Oxygen Utilization but not in Cardiac Output.
AlGhatrif M, Morrell CH, Fleg JL, Chantler PD, Najjar SS, Becker LC, Ferrucci L, Gerstenblith G, Lakatta EG. AlGhatrif M, et al. Among authors: becker lc. Am J Physiol Heart Circ Physiol. 2024 Jun 14. doi: 10.1152/ajpheart.00665.2023. Online ahead of print. Am J Physiol Heart Circ Physiol. 2024. PMID: 38874616
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Möller B, Becker LL, Saffari A, Afenjar A, Coci EG, Williamson R, Ward-Melver C, Gibaud M, Sedláčková L, Laššuthová P, Libá Z, Vlčková M, William N, Klee EW, Gavrilova RH, Lévy J, Capri Y, Scavina M, Körner RW, Valuvullah Z, Weiß C, Möller GM, Thiel M, Sinnema M, Kamsteeg EJ, Donkervoort S, Duboc V, Zaafrane-Khachnaoui K, Elkhateeb N, Selim L, Margot H, Marin V, Beneteau C, Isidor B, Cogne B, Keren B, Küsters B, Beggs AH, Genetti CA, Nicolai J, Dötsch J, Koy A, Bönnemann CG, von der Hagen M, von Kleist-Retzow JC, Voermans N, Jungbluth H, Dafsari HS. Möller B, et al. Among authors: becker ll. Brain. 2024 Jun 8:awae183. doi: 10.1093/brain/awae183. Online ahead of print. Brain. 2024. PMID: 38848546
2,171 results