المؤلفون: Hiz Kurul, S, Oktay, Y, Töpf, A, Szabó, NZ, Güngör, S, Yaramis, A, Sonmezler, E, Matalonga, L, Yis, U, Schon, K, Paramonov, I, Kalafatcilar, İP, Gao, F, Rieger, A, Arslan, N, Yilmaz, E, Ekinci, B, Edem, PP, Aslan, M, Özgör, B, Lochmüller, A, Nair, A, O'Heir, E, Lovgren, AK, Broad Center for Mendelian Genomics, Maroofian, R, Houlden, H, Polavarapu, K, Roos, A, Müller, JS, Hathazi, D, Chinnery, PF, Laurie, S, Beltran, S, Lochmüller, H, Horvath, R

وصف الملف: application/pdf; application/zip

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114579/1/awab395.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114579/2/awab395_supplementary_data.zipTest; Hiz Kurul, S; Oktay, Y; Töpf, A; Szabó, NZ; Güngör, S; Yaramis, A; Sonmezler, E; Matalonga, L; Yis, U; Schon, K; et al. Hiz Kurul, S; Oktay, Y; Töpf, A; Szabó, NZ; Güngör, S; Yaramis, A; Sonmezler, E; Matalonga, L; Yis, U; Schon, K; Paramonov, I; Kalafatcilar, İP; Gao, F; Rieger, A; Arslan, N; Yilmaz, E; Ekinci, B; Edem, PP; Aslan, M; Özgör, B; Lochmüller, A; Nair, A; O'Heir, E; Lovgren, AK; Broad Center for Mendelian Genomics; Maroofian, R; Houlden, H; Polavarapu, K; Roos, A; Müller, JS; Hathazi, D; Chinnery, PF; Laurie, S; Beltran, S; Lochmüller, H; Horvath, R (2022) High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases. Brain, 145 (4). pp. 1507-1518. ISSN 1460-2156 https://doi.org/10.1093/brain/awab395Test SGUL Authors: Maroofian, Reza

الإتاحة: https://doi.org/10.1093/brain/awab395Test
https://openaccess.sgul.ac.uk/id/eprint/114579Test/
https://openaccess.sgul.ac.uk/id/eprint/114579/1/awab395.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114579/2/awab395_supplementary_data.zipTest

المؤلفون: TUDP Study Group, Broad Center for Mendelian Genomics

المساهمون: Faculty of Medicine, Clinical Laboratory Services, Diagnostics and Blood Bank, Landspitali - The National University Hospital of Iceland

مصطلحات موضوعية: Lífefna- og sameindalíffræði, brain malformation, epilepsy, F-box protein, FBXW7, gastrointestinal issues, global developmental delay, hypotonia, intellectual disability, macrocephaly, Neurodevelopment, Proteasome Endopeptidase Complex/metabolism, Humans, Germ Cells, Ubiquitination, Germ-Line Mutation, F-Box-WD Repeat-Containing Protein 7/chemistry, Ubiquitin-Protein Ligases/genetics, Neurodevelopmental Disorders/genetics, Genetics (clinical), Genetics

وصف الملف: 601-617

العلاقة: American Journal of Human Genetics; 109(4); http://www.scopus.com/inward/record.url?scp=85127470624&partnerID=8YFLogxKTest; TUDP Study Group & Broad Center for Mendelian Genomics 2022 , ' Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome ' , American Journal of Human Genetics , vol. 109 , no. 4 , pp. 601-617 . https://doi.org/10.1016/j.ajhg.2022.03.002Test; de8a2159-1661-44de-bd54-a0566a5aaa4f; 85127470624; unpaywall: 10.1016/j.ajhg.2022.03.002; https://hdl.handle.net/20.500.11815/4105Test

الإتاحة: https://doi.org/20.500.11815/4105Test
https://doi.org/10.1016/j.ajhg.2022.03.002Test
https://hdl.handle.net/20.500.11815/4105Test

المؤلفون: Kurul, SH, Oktay, Y, Töpf, A, Szabó, NZ, Güngör, S, Yaramis, A, Sonmezler, E, Matalonga, L, Yis, U, Schon, K, Paramonov, I, Kalafatcilar, İP, Gao, F, Rieger, A, Arslan, N, Yilmaz, E, Ekinci, B, Edem, PP, Aslan, M, Özgör, B, Lochmüller, A, Nair, A, O'Heir, E, Lovgren, AK, Broad Center for Mendelian Genomics, Maroofian, R, Houlden, H, Polavarapu, K, Roos, A, Müller, JS, Hathazi, D, Chinnery, PF, Laurie, S, Beltran, S, Lochmüller, H, Horvath, R

المصدر: Brain , Article wab395. (2021) (In press).

مصطلحات موضوعية: Consanguineous families, neurogenetic disease burden, rate of consanguinity, whole exome sequencing

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10139421/1/awab395.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10139421Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10139421/1/awab395.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10139421Test/

المؤلفون: Baker, Kate, Gordon, Sarah L, Melland, Holly, Bumbak, Fabian, Scott, Daniel J, Jiang, Tess J, Owen, David, Turner, Bradley J, Boyd, Stewart G, Rossi, Mari, Al-Raqad, Mohammed, Elpeleg, Orly, Peck, Dawn, Mancini, Grazia MS, Wilke, Martina, Zollino, Marcella, Marangi, Giuseppe, Weigand, Heike, Borggraefe, Ingo, Haack, Tobias, Stark, Zornitza, Sadedin, Simon, Broad Center for Mendelian Genomics, Tan, Tiong Yang, Jiang, Yunyun, Gibbs, Richard A, Ellingwood, Sara, Amaral, Michelle, Kelley, Whitley, Kurian, Manju A, Cousin, Michael A, Raymond, F Lucy

مصطلحات موضوعية: Action Potentials, Adolescent, Animals, Calcium, Child, Preschool, Electrophysiological Phenomena, Endocytosis, Female, Humans, Intellectual Disability, Male, Mice, Inbred C57BL, Movement Disorders, Mutation, Missense, Neurodevelopmental Disorders, Neurons, Rats, Synaptic Transmission, Synaptic Vesicles, Synaptotagmin I, Young Adult

وصف الملف: Print; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/285739Test

الإتاحة: https://doi.org/10.17863/CAM.33083Test
https://www.repository.cam.ac.uk/handle/1810/285739Test

المؤلفون: Baker, K, Gordon, SL, Melland, H, Bumbak, F, Scott, DJ, Jiang, TJ, Owen, D, Turner, BJ, Boyd, SG, Rossi, M, Al-Raqad, M, Elpeleg, O, Peck, D, Mancini, GMS, Wilke, M, Zollino, M, Marangi, G, Weigand, H, Borggraefe, I, Haack, T, Stark, Z, Sadedin, S, Broad Center for Mendelian Genomics, ., Tan, TY, Jiang, Y, Gibbs, RA, Ellingwood, S, Amaral, M, Kelley, W, Kurian, MA, Cousin, MA, Raymond, FL

المصدر: Brain , 141 (9) pp. 2576-2591. (2018)

مصطلحات موضوعية: SYT1, synaptotagmin 1, movement disorder, intellectual disability, synaptic vesicle

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10055153/1/awy209.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10055153Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10055153/1/awy209.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10055153Test/

المؤلفون: Hiz Kurul, Semra, Oktay, Yavuz, Töpf, Ana, Szabó, Nóra Zs, Güngör, Serdal, Yaramis, Ahmet, Sonmezler, Ece, Matalonga, Leslie, Yis, Uluc, Schon, Katherine, Paramonov, Ida, Kalafatcilar, İpek Polat, Gao, Fei, Rieger, Aliz, Arslan, Nur, Yilmaz, Elmasnur, Ekinci, Burcu, Edem, Pinar Pulat, Aslan, Mahmut, Özgör, Bilge, Lochmüller, Angela, Nair, Ashwati, O'Heir, Emily, Lovgren, Alysia K, Broad Center for Mendelian Genomics, Maroofian, Reza, Houlden, Henry, Polavarapu, Kiran, Roos, Andreas, Müller, Juliane S, Hathazi, Denisa, Chinnery, Patrick F, Laurie, Steven, Beltran, Sergi, Lochmüller, Hanns, Horvath, Rita

مصطلحات موضوعية: consanguineous families, neurogenetic disease burden, rate of consanguinity, whole exome sequencing, Consanguinity, Exome, Homozygote, Humans, Mutation, Pedigree, Phenotype, Exome Sequencing

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/329391Test

الإتاحة: https://doi.org/10.17863/CAM.76839Test
https://www.repository.cam.ac.uk/handle/1810/329391Test

المؤلفون: Stephenson, Sarah E.M., Costain, Gregory, Blok, Laura E.R., Silk, Michael A., Nguyen, Thanh Binh, Dong, Xiaomin, Alhuzaimi, Dana E., Dowling, James J., Walker, Susan, Amburgey, Kimberly, Hayeems, Robin Z., Rodan, Lance H., Schwartz, Marc A., Picker, Jonathan, Lynch, Sally A., Gupta, Aditi, Rasmussen, Kristen J., Schimmenti, Lisa A., Klee, Eric W., Niu, Zhiyv, Agre, Katherine E., Chilton, Ilana, Chung, Wendy K., Revah-Politi, Anya, Au, P.Y. Billie, Griffith, Christopher, Racobaldo, Melissa, Raas-Rothschild, Annick, Zeev, Bruria Ben, Barel, Ortal, Moutton, Sebastien, Morice-Picard, Fanny, Carmignac, Virginie, Cornaton, Jenny, Marle, Nathalie, Devinsky, Orrin, Stimach, Chandler, Burns Wechsler, Stephanie, Hainline, Bryan E., Sapp, Katie, Willems, Marjolaine, Bruel, Ange-Line, Dias, Kerith-Rae, Evans, Carey-Anne, Roscioli, Tony, Sachdev, Rani, Temple, Suzanna E.L., Zhu, Ying, Baker, Joshua J., Scheffer, Ingrid E., Gardiner, Fiona J., Schneider, Amy L., Muir, Alison M., Mefford, Heather C., Crunk, Amy, Heise, Elizabeth M., Millan, Francisca, Monaghan, Kristin G., Person, Richard, Rhodes, Lindsay, Richards, Sarah, Wentzensen, Ingrid M., Cogné, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Vincent, Marie, Besnard, Thomas, Piton, Amelie, Marcelis, Carlo, Kato, Kohji, Koyama, Norihisa, Ogi, Tomoo, Suk-Ying Goh, Elaine, Richmond, Christopher, Amor, David J., Boyce, Jessica O., Morgan, Angela T., Hildebrand, Michael S., Kaspi, Antony, Bahlo, Melanie, Friðriksdóttir, Rún, Katrínardóttir, Hildigunnur, Sulem, Patrick, Stefánsson, Kári, Björnsson, Hans Tómas, Mandelstam, Simone, Morleo, Manuela, Mariani, Milena, TUDP Study Group, Scala, Marcello, Accogli, Andrea, Torella, Annalaura, Capra, Valeria, Wallis, Mathew, Jansen, Sandra, Weisfisz, Quinten, de Haan, Hugoline, Sadedin, Simon, Broad Center for Mendelian Genomics, Lim, Sze Chern, White, Susan M., Ascher, David B., Schenck, Annette, Lockhart, Paul J., Christodoulou, John, Tan, Tiong Yang

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Neurodevelopment, Global developmental delay, Brain malformation, Epilepsy, Macrocephaly, Intellectual disability, Hypotonia, Gastrointestinal issues, FBXW7, F-box protein

وصف الملف: application/pdf

العلاقة: American Journal of Human Genetics; Stephenson SEM, Costain G, Blok LER, et al. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. Am J Hum Genet. 2022;109(4):601-617. doi:10.1016/j.ajhg.2022.03.002; https://hdl.handle.net/1805/35407Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.03.002Test
https://hdl.handle.net/1805/35407Test

المؤلفون: Yates, TM, Vasudevan, PC, Chandler, KE, Donnelly, DE, Stark, Z, Sadedin, S, Willoughby, J, Broad Center for Mendelian Genomics, DDD study, Balasubramanian, M

العلاقة: Yates, T. M., Vasudevan, P. C., Chandler, K. E., Donnelly, D. E., Stark, Z., Sadedin, S., Willoughby, J., Broad Center for Mendelian Genomics, , DDD study, & Balasubramanian, M. (2017). De novo mutations in HNRNPU result in a neurodevelopmental syndrome. Am J Med Genet A, 173 (11), pp.3003-3012. https://doi.org/10.1002/ajmg.a.38492Test.; http://hdl.handle.net/11343/293503Test

الإتاحة: https://doi.org/10.1002/ajmg.a.38492Test
http://hdl.handle.net/11343/293503Test

المؤلفون: Woldegebriel, Rosa, Kvist, Jouni, Andersson, Noora, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H, Bijlsma, Emilia K, Hoffer, Mariëtte J V, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Cuppen, Inge, van den Boogaard, Marie-Jose´ H, Bharucha-Goebel, Diana, Donkervoort, Sandra, Winchester, Sara, Zori, Roberto, Bönnemann, Carsten G, Maroofian, Reza, O’Connor, Emer, Houlden, Henry, Zhao, Fang, Carpén, Olli, White, Matthew, Sreedharan, Jemeen, Stewart, Murray, Ylikallio, Emil, Tyynismaa, Henna

المساهمون: Doctoral Programme Brain & Mind, University of Helsinki, Academy of Finland, Instrumentarium Science Foundation, Estonian Research Council, Broad Center for Mendelian Genomics, National Human Genome Research Institute, MHW, MRC, National Institute of Neurological Disorders and Stroke, National Institutes of Health

المصدر: Human Molecular Genetics ; volume 29, issue 9, page 1426-1439 ; ISSN 0964-6906 1460-2083

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

الإتاحة: https://doi.org/10.1093/hmg/ddaa051Test
http://academic.oup.com/hmg/article-pdf/29/9/1426/33394117/ddaa051.pdfTest

المؤلفون: Donkervoort, S., Sabouny, R., Yun, P., Gauquelin, L., Chao, K. R., Hu, Y., Al Khatib, I., Töpf, A., Mohassel, P., Cummings, B. B., Kaur, R., Saade, D., Moore, S. A., Waddell, L. B., Farrar, M. A., Goodrich, J. K., Uapinyoying, P., Chan, S.H. S., Javed, A., Leach, M. E., Karachunski, P., Dalton, J., Medne, L., Harper, A., Thompson, C., Thiffault, I., Specht, S., Lamont, R. E., Saunders, C., Racher, H., Bernier, F. P., Mowat, D., Witting, N., Vissing, J., Hanson, R., Coffman, K. A., Hainlen, M., Parboosingh, J. S., Carnevale, A., Yoon, G., Schnur, R. E., Boycott, K. M., Mah, J. K., Straub, V., Foley, A. Reghan, Innes, A. M., Bönnemann, C. G., Shutt, T. E.

المساهمون: Alberta Children's Hospital Research Institute, Alberta Children’s Hospital Foundation, NINDS, NHGRI, NIH Deputy Director for Intramural Research, NIH Clinical Center, Broad Center for Mendelian Genomics, National Heart, Lung and Blood Institute, National Eye Institute, Genome Canada, Ontario Genomics Institute, Canadian Institutes of Health Research, Ontario Research Fund, Genome Alberta, Genome British Columbia, Genome Quebec, owa Wellstone Muscular Dystrophy Cooperative Research Center, Children's Hospital of Eastern Ontario Foundation, Queen Elizabeth II Graduate Scholarship, Alberta Children’s Hospital Research Institute Graduate Studentship, Natural Sciences and Engineering Research Council of Canada

المصدر: Acta Neuropathologica ; volume 138, issue 6, page 1013-1031 ; ISSN 0001-6322 1432-0533

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology (clinical), Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1007/s00401-019-02059-zTest