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Page 1
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX, Childers MC, Marvin CT, Marcello AJ, Gonorazky H, Hazrati LN, Dowling JJ, Al Amrani F, Alanay Y, Nieto Y, Gabriel MÁM, Aylsworth AS, Buckingham KJ, Shively KM, Sommers O, Anderson K; University of Washington Center for Mendelian Genomics; University of Washington Center for Rare Disease Research; Regnier M, Bamshad MJ. Chong JX, et al. Among authors: dowling jj. HGG Adv. 2023 Jun 15;4(3):100213. doi: 10.1016/j.xhgg.2023.100213. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37457373 Free PMC article.
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX, Childers MC, Marvin CT, Marcello AJ, Gonorazky H, Hazrati LN, Dowling JJ, Amrani FA, Alanay Y, Nieto Y, Gabriel MÁM, Aylsworth AS, Buckingham KJ, Shively KM, Sommers O, Anderson K; University of Washington Center for Mendelian Genomics, University of Washington Center for Rare Disease Research; Regnier M, Bamshad MJ. Chong JX, et al. Among authors: dowling jj. medRxiv [Preprint]. 2023 Mar 9:2023.03.07.23286862. doi: 10.1101/2023.03.07.23286862. medRxiv. 2023. Update in: HGG Adv. 2023 Jun 15;4(3):100213. doi: 10.1016/j.xhgg.2023.100213. PMID: 36945405 Free PMC article. Updated. Preprint.
Titin related myopathy with ophthalmoplegia. A novel phenotype.
Alawneh I, Yuki KE, Amburgey K, Yoon G, Dowling JJ, Hazrati LN, Gonorazky H. Alawneh I, et al. Among authors: dowling jj. Neuromuscul Disord. 2023 Jul;33(7):605-609. doi: 10.1016/j.nmd.2023.05.003. Epub 2023 May 13. Neuromuscul Disord. 2023. PMID: 37393749
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.
Oh RY, AlMail A, Cheerie D, Guirguis G, Hou H, Yuki KE, Haque B, Thiruvahindrapuram B, Marshall CR, Mendoza-Londono R, Shlien A, Kyriakopoulou LG, Walker S, Dowling JJ, Wilson MD, Costain G. Oh RY, et al. Among authors: dowling jj. HGG Adv. 2024 Jul 18;5(3):100299. doi: 10.1016/j.xhgg.2024.100299. Epub 2024 Apr 24. HGG Adv. 2024. PMID: 38659227 Free PMC article.
A novel deep intronic variant in LAMA2 identified by RNA sequencing.
Djordjevic D, Alawneh I, Amburgey K, Yuki KE, Kyriakopoulou LG, Navickiene V, Stavropoulos J, Yoon G, Dowling JJ, Gonorazky H. Djordjevic D, et al. Among authors: dowling jj. Neuromuscul Disord. 2024 Jun;39:19-23. doi: 10.1016/j.nmd.2024.04.001. Epub 2024 Apr 5. Neuromuscul Disord. 2024. PMID: 38691940
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Hartley T, Marshall D, Acker M, Fooks K, Gillespie MK, Price EM, Graham ID, White-Brown A, MacKay L, Macdonald SK, Brady L, Hui AY, Andrews JD, Chowdhury A, Wall E, Soubry É, Ediae GU, Rojas S, Assamad D, Dyment D, Tarnopolsky M, Sawyer SL, Chisholm C, Lemire G, Amburgey K, Lazier J, Mendoza-Londono R, Dowling JJ, Balci TB, Armour CM, Bhola PT, Costain G, Dupuis L, Carter M, Badalato L, Richer J, Boswell-Patterson C, Kannu P, Cordeiro D, Warman-Chardon J, Graham G, Siu VM, Cytrynbaum C, Rusnak A, Aul RB, Yoon G, Gonorazky H, McNiven V, Mercimek-Andrews S, Guerin A, Deshwar AR, Marwaha A, Weksberg R, Karp N, Campbell M, Al-Qattan S, Shuen AY, Inbar-Feigenberg M, Cohn R, Szuto A, Inglese C, Poirier M, Chad L, Potter B, Boycott KM, Hayeems R; Care4Rare Canada Consortium. Hartley T, et al. Among authors: dowling jj. Genet Med. 2024 Feb;26(2):101012. doi: 10.1016/j.gim.2023.101012. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924259
A pro-oxidant suppresses unrelated diseases.
Pannia E, Dowling JJ. Pannia E, et al. Among authors: dowling jj. Science. 2024 Oct 25;386(6720):380-381. doi: 10.1126/science.adt2538. Epub 2024 Oct 24. Science. 2024. PMID: 39446962
The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry.
Hodgkinson V, Lounsberry J, M'Dahoma S, Russell A, Jewett G, Benstead T, Brais B, Campbell C, Johnston W, Lochmüller H, McCormick A, Nguyen CT, O'Ferrall E, Oskoui M, Abrahao A, Briemberg H, Bourque PR, Botez S, Cashman N, Chapman K, Chrestian N, Crone M, Dobrowolski P, Dojeiji S, Dowling JJ, Dupré N, Genge A, Gonorazky H, Grant I, Hasal S, Izenberg A, Kalra S, Katzberg H, Krieger C, Leung E, Linassi G, Mackenzie A, Mah JK, Marrero A, Massie R, Matte G, McAdam L, McMillan H, Melanson M, Mezei MM, O'Connell C, Pfeffer G, Phan C, Plamondon S, Poulin C, Rodrigue X, Schellenberg K, Selby K, Sheriko J, Shoesmith C, Smith RG, Taillon M, Taylor S, Venance S, Warman-Chardon J, Worley S, Zinman L, Korngut L. Hodgkinson V, et al. Among authors: dowling jj. J Neuromuscul Dis. 2021;8(1):53-61. doi: 10.3233/JND-200538. J Neuromuscul Dis. 2021. PMID: 32925088 Free PMC article.
The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research.
Bullivant J, Sen A, Page J, Graham RJ, Jungbluth H, Schara-Schmidt U, Lynch O, Bönnemann C, Hollander AD, Lennox A, Moat D, Saegert C, Amburgey K, Buj-Bello A, Dowling JJ, Marini-Bettolo C. Bullivant J, et al. Among authors: dowling jj. Neuromuscul Disord. 2024 Feb;35:42-52. doi: 10.1016/j.nmd.2023.10.014. Epub 2023 Oct 30. Neuromuscul Disord. 2024. PMID: 38061948 Free article.
197 results