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Congenital tremor and myopathy secondary to novel MYBPC1 variant.
Leduc-Pessah H, Smith IC, Kernohan KD, Sampaio M, Melkus G, Strasser L, Chisholm C, Huang L, Hanes I, Tran MA, Venkateswaran S, Muir K, Charlesworth L, Warman-Chardon J. Leduc-Pessah H, et al. Among authors: kernohan kd. J Neurol Sci. 2024 Feb 15;457:122864. doi: 10.1016/j.jns.2023.122864. Epub 2024 Jan 4. J Neurol Sci. 2024. PMID: 38185014
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Del Gobbo GF, Wang X, Couse M, Mackay L, Goldsmith C, Marshall AE, Liang Y, Lambert C, Zhang S, Dhillon H, Fanslow C, Rowell WJ; Care4Rare Canada Consortium; Marshall CR, Kernohan KD, Boycott KM. Del Gobbo GF, et al. Among authors: kernohan kd. Am J Med Genet A. 2024 May;194(5):e63522. doi: 10.1002/ajmg.a.63522. Epub 2023 Dec 22. Am J Med Genet A. 2024. PMID: 38131126
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
de Kock L, Cuillerier A, Gillespie M, Couse M, Hartley T, Mears W, Bernier FP, Chudley AE, Frosk P, Nikkel SM, Innes AM, Lauzon J, Thomas M, Guerin A, Armour CM, Weksberg R, Scott JN, Watkins D, Harvey S, Cytrynbaum C; Care4Rare Canada Consortium; Kernohan KD, Boycott KM. de Kock L, et al. Among authors: kernohan kd. Am J Med Genet A. 2024 Mar;194(3):e63466. doi: 10.1002/ajmg.a.63466. Epub 2023 Nov 10. Am J Med Genet A. 2024. PMID: 37949664
72 results