Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Autor: Ansari, Morad, Faour, Kamli N.W., Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M., Denhoff, Erica R., Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M., Firth, Helen, Breman, Amy M., Bijlsma, Emilia K., Iwata-Otsubo, Aiko, de Ravel, Thomy J.L., Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G., Haack, Tobias B., Korenke, G. Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M., Low, Karen J., Place, Emily, Humberson, Jennifer, Napier, Melanie P., Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A., Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Dortenzio, Victoria, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald F., O’Donnell-Luria, Anne, Talkowski, Michael E., FitzPatrick, David R., Boone, Philip M.

Publikováno v: In Human Genetics and Genomics Advances 11 April 2024 5(2)

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Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland

Autor: Leighton, Danielle J, Ansari, Morad, Newton, Judith, Parry, David, Cleary, Elaine, Colville, Shuna, Stephenson, Laura, Larraz, Juan, Johnson, Micheala, Beswick, Emily, Wong, Michael, Gregory, Jenna, Carod Artal, Javier, Davenport, Richard, Duncan, Callum, Morrison, Ian, Smith, Colin, Swingler, Robert, Deary, Ian J, Porteous, Mary, Aitman, Timothy J, Chandran, Siddharthan, Gorrie, George H, Pal, Suvankar

Publikováno v: Leighton, D J, Ansari, M, Newton, J, Parry, D, Cleary, E, Colville, S, Stephenson, L, Larraz, J, Johnson, M, Beswick, E, Wong, M, Gregory, J, Carod Artal, J, Davenport, R, Duncan, C, Morrison, I, Smith, C, Swingler, R, Deary, I J, Porteous, M, Aitman, T J, Chandran, S & Gorrie, G H & Pal, S 2022, ' Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland ', Journal of Neurology . https://doi.org/10.1007/s00415-022-11505-0

Background We investigated the phenotypes and genotypes of a cohort of ‘long-surviving’ individuals with motor neuron disease (MND) to identify potential targets for prognostication. Methods Patients were recruited via the Clinical Audit Research

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a84769db0c6f1cc128f8e988e80bc4
https://hdl.handle.net/20.500.11820/6c86a54e-bfee-4f15-b732-c56efa9cfafd

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