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Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.
Boczonadi V, Meyer K, Gonczarowska-Jorge H, Griffin H, Roos A, Bartsakoulia M, Bansagi B, Ricci G, Palinkas F, Zahedi RP, Bruni F, Kaspar B, Lochmüller H, Boycott KM, Müller JS, Horvath R. Boczonadi V, et al. Among authors: boycott km. Hum Mol Genet. 2018 Jun 15;27(12):2187-2204. doi: 10.1093/hmg/ddy127. Hum Mol Genet. 2018. PMID: 29648643 Free PMC article.
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H. Boycott KM, et al. Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003. Am J Hum Genet. 2017. PMID: 28475856 Free PMC article.
The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.
Lochmüller H, Torrent I Farnell J, Le Cam Y, Jonker AH, Lau LP, Baynam G, Kaufmann P, Dawkins HJ, Lasko P, Austin CP, Boycott KM; IRDiRC Consortium Assembly. Lochmüller H, et al. Among authors: boycott km. Eur J Hum Genet. 2017 Dec;25(12):1293-1302. doi: 10.1038/s41431-017-0008-z. Epub 2017 Nov 20. Eur J Hum Genet. 2017. PMID: 29158551 Free PMC article.
Mutations in PIK3R1 cause SHORT syndrome.
Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL; FORGE Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM. Dyment DA, et al. Among authors: boycott km. Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005. Epub 2013 Jun 27. Am J Hum Genet. 2013. PMID: 23810382 Free PMC article.
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nürnberg G, McLeod DR, Thiele H, Waggoner D, Altmüller J, Boycott KM, Schoser B, Nürnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE. Bögershausen N, et al. Among authors: boycott km. Am J Hum Genet. 2013 Jul 11;93(1):181-90. doi: 10.1016/j.ajhg.2013.05.028. Epub 2013 Jul 3. Am J Hum Genet. 2013. PMID: 23830518 Free PMC article.
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.
Bonnefoy S, Watson CM, Kernohan KD, Lemos M, Hutchinson S, Poulter JA, Crinnion LA, Berry I, Simmonds J, Vasudevan P, O'Callaghan C, Hirst RA, Rutman A, Huang L, Hartley T, Grynspan D, Moya E, Li C, Carr IM, Bonthron DT, Leroux M; Care4Rare Canada Consortium; Boycott KM, Bastin P, Sheridan EG. Bonnefoy S, et al. Among authors: boycott km. Am J Hum Genet. 2018 Nov 1;103(5):727-739. doi: 10.1016/j.ajhg.2018.10.003. Am J Hum Genet. 2018. PMID: 30388400 Free PMC article.
278 results