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Results 11-20 of 31 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2021PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesGuimier, A.; Achleitner, M.T.; Moreau de Bellaing, A.; Edwards, M.; de Pontual, L.; Mittal, K.; Dunn, K.E.; Grove, M.E.; Tysoe, C.J.; Dimartino, C.; Cameron, J.; Kanthi, A.; Shukla, A.; van den Broek, F.; Chatterjee, D.; Alston, C.L.; Knowles, C.V.; Brett, L.; Till, J.A.; Homfray, T.; et al.
2013Identification Of KLHL41 mutations implicates BTB-Kelch-Mediated Ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathyGupta, V.; Ravenscroft, G.; Shaheen, R.; Todd, E.; Swanson, L.; Shiina, M.; Ogata, K.; Hsu, C.; Clarke, N.; Darras, B.; Farrar, M.; Hashem, A.; Manton, N.; Muntoni, F.; North, K.; Sandaradura, S.; Nishino, I.; Hayashi, Y.; Sewry, C.; Thompson, E.; et al.
2020Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancerWong, M.; Mayoh, C.; Lau, L.M.S.; Khuong-Quang, D.-A.; Pinese, M.; Kumar, A.; Barahona, P.; Wilkie, E.E.; Sullivan, P.; Bowen-James, R.; Syed, M.; Martincorena, I.; Abascal, F.; Sherstyuk, A.; Bolanos, N.A.; Baber, J.; Priestley, P.; Dolman, M.E.M.; Fleuren, E.D.G.; Gauthier, M.-E.; et al.
2022Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsBournazos, A.M.; Riley, L.G.; Bommireddipalli, S.; Ades, L.; Akesson, L.S.; Al-Shinnag, M.; Alexander, S.I.; Archibald, A.D.; Balasubramaniam, S.; Berman, Y.; Beshay, V.; Boggs, K.; Bojadzieva, J.; Brown, N.J.; Bryen, S.J.; Buckley, M.F.; Chong, B.; Davis, M.R.; Dawes, R.; Delatycki, M.; et al.
2013Rare variants in single-minded 1 (SIM1) are associated with severe obesityRamachandrappa, S.; Raimondo, A.; Cali, A.; Keogh, J.; Henning, E.; Saeed, S.; Thompson, A.; Garg, S.; Bochukova, E.; Brage, S.; Trowse, V.; Wheeler, E.; Sullivan, A.; Dattani, M.; Clayton, P.; Datta, V.; Bruning, J.; Wareham, N.; O'Rahilly, S.; Peet, D.; et al.
2019A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiencyVolpi, S.; Cicalese, M.P.; Tuijnenburg, P.; Tool, A.T.J.; Cuadrado, E.; Abu-Halaweh, M.; Ahanchian, H.; Alzyoud, R.; Akdemir, Z.C.; Barzaghi, F.; Blank, A.; Boisson, B.; Bottino, C.; Brigida, I.; Caorsi, R.; Casanova, J.L.; Chiesa, S.; Chinn, I.K.; Dückers, G.; Enders, A.; et al.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2012Death adder envenoming causes neurotoxicity not reversed by antivenom - Australian snakebite project (ASP-16)Johnston, C.; O'Leary, M.; Brown, S.; Currie, B.; Halkidis, L.; Whitaker, R.; Close, B.; Isbister, G.; Nagree, Y.; Ker, F.; Greene, S.; Taylor, M.; Macrokanis, C.; Wilke, G.; Coulson, A.; Barnes, C.; Bonni, R.; Whitake, R.; Halkidis, L.; Isbiste, G.; et al.; de Silva, J.
2010Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfataseHarmatz, P.; Yu, Z.; Giugliani, R.; Schwartz, I.; Guffon, N.; Teles, E.; Miranda, C.; Wraith, J.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; Hopwood, J.; Plecko, B.; Steiner, R.; Whitley, C.; Kaplan, P.; Swiedler, S.; Hardy, K.; Berger, K.; et al.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.

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