المؤلفون: Khalaf-Nazzal, R., Fasham, J., Inskeep, K. A., Blizzard, L. E., Leslie, J. S., Wakeling, M. N., Ubeyratna, N., Mitani, T., Griffith, J. L., Baker, W., Al-Hijawi, F., Keough, K. C., Gezdirici, A., Pena, L., Spaeth, C. G., Turnpenny, P. D., Walsh, J. R., Ray, R., Neilson, A., Kouranova, E., Cui, X., Curiel, D. T., Pehlivan, D., Akdemir, Z. C., Posey, J. E., Lupski, J. R., Dobyns, W. B., Stottmann, R. W., Crosby, A. H., Baple, E. L.

مصطلحات موضوعية: Humans, Animals, Mice, Lissencephaly/genetics, Alleles, Tubulin/genetics, Phenotype, Nervous System Malformations/genetics, Classical Lissencephalies and Subcortical Band Heterotopias/genetics, Knockout, Microtubule-Associated Proteins/genetics, Mark2, agyria, autosomal recessive, lissencephaly, neurodevelopmental disorder, pachygyria, patronin, tubulinopathy

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(22)00415-3; Am J Hum Genet. 2022 Nov 3;109(11):2068-2079. doi:10.1016/j.ajhg.2022.09.012. Epub 2022 Oct 24.; https://rde.dspace-express.com/handle/11287/622694Test; American journal of human genetics; PMC9674946

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.09.012Test
https://rde.dspace-express.com/handle/11287/622694Test

المؤلفون: Dominik, Natalia, Magri, Stefania, Currò, Riccardo, Abati, Elena, Facchini, Stefano, Corbetta, Marinella, Macpherson, Hannah, Di Bella, Daniela, Sarto, Elisa, Stevanovski, Igor, Chintalaphani, Sanjog R, Akcimen, Fulya, Manini, Arianna, Vegezzi, Elisa, Quartesan, Ilaria, Montgomery, Kylie-Ann, Pirota, Valentina, Crespan, Emmanuele, Perini, Cecilia, Grupelli, Glenda Paola, Tomaselli, Pedro J, Marques, Wilson, Ambrose, J C, Arumugam, P, Baple, E L, Bleda, M, Boardman-Pretty, F, Boissiere, J M, Boustred, C R, Brittain, H, Caulfield, M J, Chan, G C, Craig, C E H, Daugherty, L C, de Burca, A, Devereau, A, Elgar, G, Foulger, R E, Fowler, T, Furió-Tarí, P, Gustavsson, E, Hackett, J M, Halai, D, Hamblin, A, Henderson, S, Holman, J E, Hubbard, T J P, Ibáñez, K, Jackson, R, Jones, L J

المساهمون: Medical Research Council, Fondazione Cariplo, Inherited Neuropathy Consortium, Fondazione Regionale per la Ricerca Biomedica, National Ministry of Health, Italian Ministry for Universities and Research, Medical Research Future Fund Genomics Health Futures Mission, NIH Intramural Research Program, US National Institute on Aging, Telethon Foundation, Rotary Club Milano Ovest

المصدر: Brain ; volume 146, issue 12, page 5060-5069 ; ISSN 0006-8950 1460-2156

الإتاحة: https://doi.org/10.1093/brain/awad240Test
https://academic.oup.com/brain/article-pdf/146/12/5060/53962945/awad240.pdfTest

المؤلفون: Robinson, H. K., Stals, K., Hill, S., Parrish, A., Baple, E. L.

مصطلحات موضوعية: Humans, Infant, Epilepsy/diagnosis/genetics, Spasms, Infantile, Mutation

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1474-4422Test(23)00429-5; Robinson HK, Stals K, Hill S, Parrish A, Baple EL. Rapid genome sequencing for infantile-onset epilepsy within a national health-care setting. The Lancet Neurology. 2024;23(2):139-40.; The Lancet. Neurology; https://hdl.handle.net/11287/623222Test

الإتاحة: https://doi.org/10.1016/s1474-4422Test(23)00429-5
https://hdl.handle.net/11287/623222Test

المؤلفون: McInnes-Dean, H., Mellis, R., Daniel, M., Walton, H., Baple, E. L., Bertoli, M., Fisher, J., Gajewska-Knapik, K., Holder-Espinasse, M., Lafarge, C., Leeson-Beevers, K., McEwan, A., Pandya, P., Parker, M., Peet, S., Roberts, L., Sankaran, S., Smith, A., Tapon, D., Wu, W. H., Wynn, S. L., Chitty, L. S., Hill, M., Peter, M.

العلاقة: https://doi.org/10.1002/pd.6537Test; McInnes-Dean H, Mellis R, Daniel M, Walton H, Baple EL, Bertoli M, et al. 'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service. Prenat Diagn. 2024.; Prenatal diagnosis; https://hdl.handle.net/11287/623214Test

الإتاحة: https://doi.org/10.1002/pd.6537Test
https://hdl.handle.net/11287/623214Test

المؤلفون: Levitin, M. O., Rawlins, L. E., Sanchez-Andrade, G., Arshad, O. A., Collins, S. C., Sawiak, S. J., Iffland, P. H., 2nd, Andersson, M. H. L., Bupp, C., Cambridge, E. L., Coomber, E. L., Ellis, I., Herkert, J. C., Ironfield, H., Jory, L., Kretz, P. F., Kant, S. G., Neaverson, A., Nibbeling, E., Rowley, C., Relton, E., Sanderson, M., Scott, E. M., Stewart, H., Shuen, A. Y., Schreiber, J., Tuck, L., Tonks, J., Terkelsen, T., van Ravenswaaij-Arts, C., Vasudevan, P., Wenger, O., Wright, M., Day, A., Hunter, A., Patel, M., Lelliott, C. J., Crino, P. B., Yalcin, B., Crosby, A. H., Baple, E. L., Logan, D. W., Hurles, M. E., Gerety, S. S.

مصطلحات موضوعية: Humans, Animals, Mice, Signal Transduction/genetics, TOR Serine-Threonine Kinases/metabolism, Brain/metabolism, Mechanistic Target of Rapamycin Complex 1/metabolism, Cognition, Microfilament Proteins/genetics, animal model, iPSC, mTOR, macrocephaly, neurodevelopmental disorders, recessive, advisor to Astra-Zeneca

العلاقة: Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, et al. Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes. Brain : a journal of neurology. 2023;146(11):4766-83.; Brain : a journal of neurology; PMC10629792; https://hdl.handle.net/11287/623085Test

الإتاحة: https://doi.org/10.1093/brain/awad231Test
https://hdl.handle.net/11287/623085Test

المؤلفون: Leslie, J. S., Hjeij, R., Vivante, A., Bearce, E. A., Dyer, L., Wang, J., Rawlins, L., Kennedy, J., Ubeyratna, N., Fasham, J., Irons, Z. H., Craig, S. B., Koenig, J., George, S., Pode-Shakked, B., Bolkier, Y., Barel, O., Mane, S., Frederiksen, K. K., Wenger, O., Scott, E., Cross, H. E., Lorentzen, E., Norris, D. P., Anikster, Y., Omran, H., Grimes, D. T., Crosby, A. H., Baple, E. L.

مصطلحات موضوعية: Daw1, Heterotaxy, Left-right asymmetry, Motile cilia, Primary ciliary dyskinesia

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(22)00870-X; Genet Med. 2022 Sep 7:S1098-3600(22)00870-X. doi:10.1016/j.gim.2022.07.019.; https://rde.dspace-express.com/handle/11287/622663Test; Genetics in medicine

الإتاحة: https://doi.org/10.1016/j.gim.2022.07.019Test
https://rde.dspace-express.com/handle/11287/622663Test

المؤلفون: Tábara, L. C., Al-Salmi, F., Maroofian, R., Al-Futaisi, A. M., Al-Murshedi, F., Kennedy, J., Day, J. O., Courtin, T., Al-Khayat, A., Galedari, H., Mazaheri, N., Protasoni, M., Johnson, M., Leslie, J. S., Salter, C. G., Rawlins, L. E., Fasham, J., Al-Maawali, A., Voutsina, N., Charles, P., Harrold, L., Keren, B., Kunji, E. R. S., Vona, B., Jelodar, G., Sedaghat, A., Shariati, G., Houlden, H., Crosby, A. H., Prudent, J., Baple, E. L.

مصطلحات موضوعية: Endoplasmic Reticulum/genetics/metabolism, Humans, Mitochondria/genetics, Mutation/genetics, Proteins/genetics, Spastic Paraplegia, Hereditary, Tmem63c, endoplasmic reticulum/ER, hereditary spastic paraplegia/HSP, mitochondria, mitochondria-ER contact sites/MERCs

العلاقة: Brain. 2022 Sep 14;145(9):3095-3107. doi:10.1093/brain/awac123.; https://rde.dspace-express.com/handle/11287/622553Test; Brain : a journal of neurology; PMC9473353

الإتاحة: https://doi.org/10.1093/brain/awac123Test
https://rde.dspace-express.com/handle/11287/622553Test

المؤلفون: Ma, Y., Wang, X., Shoshany, N., Jiao, X., Lee, A., Ku, G., Baple, E. L., Fasham, J., Nadeem, R., Naeem, M. A., Riazuddin, S., Riazuddin, S. A., Crosby, A. H., Hejtmancik, J. F.

مصطلحات موضوعية: Clcc1, Pakistan, founder mutation, haplotype analysis, mutation age estimate, retinitis pigmenstosa, commercial or financial relationships that could be construed as a potential, conflict of interest

العلاقة: https://doi.org/10.3389/fgene.2022.804924Test; Front Genet. 2022 Mar 22;13:804924. doi:10.3389/fgene.2022.804924. eCollection 2022.; https://rde.dspace-express.com/handle/11287/622654Test; Frontiers in genetics; PMC8980549

الإتاحة: https://doi.org/10.3389/fgene.2022.804924Test
https://rde.dspace-express.com/handle/11287/622654Test

المؤلفون: Lesurf, Robert, Said, Abdelrahman, Akinrinade, Oyediran, Breckpot, Jeroen, Delfosse, Kathleen, Liu, Ting, Yao, Roderick, Persad, Gabrielle, McKenna, Fintan, Noche, Ramil R., Oliveros, Winona, Mattioli, Kaia, Shah, Shreya, Miron, Anastasia, Yang, Qian, Meng, Guoliang, Yue, Michelle Chan Seng, Sung, Wilson W. L., Thiruvahindrapuram, Bhooma, Lougheed, Jane, Oechslin, Erwin, Mondal, Tapas, Bergin, Lynn, Smythe, John, Jayappa, Shashank, Rao, Vinay J., Shenthar, Jayaprakash, Dhandapany, Perundurai S., Semsarian, Christopher, Weintraub, Robert G., Bagnall, Richard D., Ingles, Jodie, Ambrose, J. C., Arumugam, P., Baple, E. L., Bleda, M., Boardman-Pretty, F., Boissiere, J. M., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furió-Tarí, P.

المصدر: npj Genomic Medicine ; volume 7, issue 1 ; ISSN 2056-7944

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1038/s41525-022-00288-yTest
https://www.nature.com/articles/s41525-022-00288-y.pdfTest
https://www.nature.com/articles/s41525-022-00288-yTest

المؤلفون: Moreno-Ruiz, Nerea, Ambrose, J. C., Arumugam, P., Baple, E. L., Bleda, M., Boardman-Pretty, F., Boissiere, J. M., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furió-Tarí, P., Giess, A., Hackett, J. M., Halai, D., Hamblin, A., Henderson, S., Holman, J. E., Hubbard, T. J. P., Ibáñez, K., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lawson, K., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mason, J., McDonagh, E. M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., Odhams, C. A., Orioli, A., Patch, C., Perez-Gil, D., Pereira, M. B., Polychronopoulos, D.

المصدر: European Journal of Human Genetics ; volume 30, issue 12, page 1439-1443 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-022-01191-xTest
https://www.nature.com/articles/s41431-022-01191-x.pdfTest
https://www.nature.com/articles/s41431-022-01191-xTest