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Page 1
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: amburgey k. Neuromuscul Disord. 2024 Jun;39:19-23. doi: 10.1016/j.nmd.2024.04.001. Epub 2024 Apr 5. Neuromuscul Disord. 2024. PMID: 38691940
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: amburgey k. 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.
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: amburgey k. Genet Med. 2024 Feb;26(2):101012. doi: 10.1016/j.gim.2023.101012. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924259
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: amburgey k. 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
CAMK4-related Case of Hyperkinetic Movement Disorder.
Alawneh I, Amburgey K, Gonorazky H, Gorodetsky C. Alawneh I, et al. Among authors: amburgey k. Mov Disord Clin Pract. 2023 Mar 3;10(4):707-709. doi: 10.1002/mdc3.13702. eCollection 2023 Apr. Mov Disord Clin Pract. 2023. PMID: 37070062 Free PMC article. No abstract available.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, C… See abstract for full author list ➔ Stephenson SEM, et al. Among authors: amburgey k. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort.
Alsowat D, Whitney R, Hewson S, Jain P, Chan V, Kabir N, Amburgey K, Noone D, Lemaire M, McCoy B, Zak M. Alsowat D, et al. Among authors: amburgey k. Child Neurol Open. 2021 May 4;8:2329048X211012817. doi: 10.1177/2329048X211012817. eCollection 2021 Jan-Dec. Child Neurol Open. 2021. PMID: 34017900 Free PMC article.
Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly.
Qashqari H, Ramani A, Gonorazky H, Amburgey K, Ghahramani Seno MM, Brudno M, Naumenko S, Das S, Dowling JJ. Qashqari H, et al. Among authors: amburgey k. Neurology. 2021 Sep 20;97(12):e1253-e1256. doi: 10.1212/WNL.0000000000012265. Neurology. 2021. PMID: 34016710 Free PMC article. No abstract available.
32 results