المؤلفون: Syeda, Safoora B, Lone, Museer A, Mohassel, Payam, Donkervoort, Sandra, Munot, Pinki, Franca, Marcondes C, Galarza-Brito, Juan Eli, Eckenweiler, Matthias, Asamoah, Alexander, Gable, Kenneth, Majumdar, Anirban, Schumann, Anke, Gupta, Sita D, Lakhotia, Arpita, Shieh, Perry B, Foley, A Reghan, Jackson, Kelly E, Chao, Katherine R, Winder, Thomas L, Catapano, Francesco, Feng, Lucy, Kirschner, Janbernd, Muntoni, Francesco, Dunn, Teresa M, Hornemann, Thorsten, Bönnemann, Carsten G

مصطلحات موضوعية: Neuromuscular

وصف الملف: text/html

العلاقة: http://jnnp.bmj.com/cgi/content/short/95/2/103Test; http://dx.doi.org/10.1136/jnnp-2023-332132Test

الإتاحة: https://doi.org/10.1136/jnnp-2023-332132Test
http://jnnp.bmj.com/cgi/content/short/95/2/103Test

المؤلفون: Marchant, Rhett G., Bryen, Samantha J., Bahlo, Melanie, Cairns, Anita, Chao, Katherine R., Corbett, Alastair, Davis, Mark R., Ganesh, Vijay S., Ghaoui, Roula, Jones, Kristi J., Kornberg, Andrew J., Lek, Monkol, Liang, Christina, MacArthur, Daniel G., Oates, Emily C., O'Donnell‐Luria, Anne, O'Grady, Gina L., Osei‐Owusu, Ikeoluwa A., Rafehi, Haloom, Reddel, Stephen W., Roxburgh, Richard H., Ryan, Monique M., Sandaradura, Sarah A., Scott, Liam W., Valkanas, Elise, Weisburd, Ben, Young, Helen, Evesson, Frances J., Waddell, Leigh B., Cooper, Sandra T.

المساهمون: National Human Genome Research Institute, National Health and Medical Research Council, National Eye Institute

المصدر: Annals of Clinical and Translational Neurology ; ISSN 2328-9503 2328-9503

الإتاحة: https://doi.org/10.1002/acn3.52041Test

المؤلفون: Jeffries, Lauren, Mis, Emily K., McWalter, Kirsty, Donkervoort, Sandra, Brodsky, Nina N., Carpier, Jean-Marie, Ji, Weizhen, Ionita, Cristian, Roy, Bhaskar, Morrow, Jon S., Darbinyan, Armine, Iyer, Krishna, Aul, Ritu B., Banka, Siddharth, Chao, Katherine R., Cobbold, Laura, Cohen, Stacey, Custodio, Helena M., Drummond-Borg, Margaret, Elmslie, Frances, Finanger, Erika, Hainline, Bryan E., Helbig, Ingo, Hewson, Stacy, Hu, Ying, Jackson, Adam, Josifova, Dragana, Konstantino, Monica, Leach, Meganne E., Mak, Bryan, McCormick, David, McGee, Elisabeth, Nelson, Stanley, Nguyen, Joanne, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Roeder, Elizabeth, Roy, Sani, Sapp, Katie, Saade, Dimah, Sisodiya, Sanjay M., Stals, Karen, Towner, Shelley, Wilson, William, Khokha, Mustafa K., Bönnemann, Carsten G., Lucas, Carrie L., Lakhani, Saquib A., Borras, Silvia

المساهمون: NIH, Hartwell Foundation, Wellcome Trust, Horizon 2020, National Institute for Health Research, Cancer Research UK, Epilepsy Society

المصدر: Genetics in Medicine ; volume 26, issue 2, page 101023 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2023.101023Test
https://api.elsevier.com/content/article/PII:S1098360023010390?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360023010390?httpAccept=text/plainTest

المؤلفون: Syeda, Safoora B, Lone, Museer A, Mohassel, Payam, Donkervoort, Sandra, Munot, Pinki, França, Marcondes C, Galarza-Brito, Juan Eli, Eckenweiler, Matthias, Asamoah, Alexander, Gable, Kenneth, Majumdar, Anirban, Schumann, Anke, Gupta, Sita D, Lakhotia, Arpita, Shieh, Perry B, Foley, A Reghan, Jackson, Kelly E, Chao, Katherine R, Winder, Thomas L, Catapano, Francesco, Feng, Lucy, Kirschner, Janbernd, Muntoni, Francesco, Dunn, Teresa M, Hornemann, Thorsten, Bönnemann, Carsten G

المصدر: Journal of Neurology, Neurosurgery and Psychiatry (2023) (In press).

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10183851/1/jnnp-2023-332132.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10183851Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10183851/1/jnnp-2023-332132.full.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10183851Test/

المؤلفون: Syeda, Safoora B, Lone, Museer A, Mohassel, Payam, Donkervoort, Sandra, Munot, Pinki, França, Marcondes C, Galarza-Brito, Juan Eli, Eckenweiler, Matthias, Asamoah, Alexander, Gable, Kenneth, Majumdar, Anirban, Schumann, Anke, Gupta, Sita D, Lakhotia, Arpita, Shieh, Perry B, Foley, A Reghan, Jackson, Kelly E, Chao, Katherine R, Winder, Thomas L, Catapano, Francesco, Feng, Lucy, Kirschner, Janbernd, Muntoni, Francesco, Dunn, Teresa M, Hornemann, Thorsten, Bönnemann, Carsten G

المساهمون: NINDS/NIH, Harvard Center for Mendelian Genomics, CDMRP, National Heart, Lung, and Blood Institute, National Eye Institute, National Human Genome Research Institute, Broad Institute of MIT, Fundação de Amparo à Pesquisa do Estado de São Paulo

المصدر: Journal of Neurology, Neurosurgery & Psychiatry ; volume 95, issue 2, page 103-113 ; ISSN 0022-3050 1468-330X

الإتاحة: https://doi.org/10.1136/jnnp-2023-332132Test

المؤلفون: Morales-Rosado, Joel A., Schwab, Tanya L., Macklin-Mantia, Sarah K., Foley, A. Reghan, Pinto e Vairo, Filippo, Pehlivan, Davut, Donkervoort, Sandra, Rosenfeld, Jill A., Boyum, Grace E., Hu, Ying, Cong, Anh T.Q., Lotze, Timothy E., Mohila, Carrie A., Saade, Dimah, Bharucha-Goebel, Diana, Chao, Katherine R., Grunseich, Christopher, Bruels, Christine C., Littel, Hannah R., Estrella, Elicia A., Pais, Lynn, Kang, Peter B., Zimmermann, Michael T., Lupski, James R., Lee, Brendan, Schellenberg, Matthew J., Clark, Karl J., Wierenga, Klaas J., Bönnemann, Carsten G., Klee, Eric W.

المصدر: The American Journal of Human Genetics ; volume 110, issue 6, page 989-997 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.04.006Test
https://api.elsevier.com/content/article/PII:S0002929723001301?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929723001301?httpAccept=text/plainTest

المؤلفون: Wojcik, Monica H, Lemire, Gabrielle, Berger, Eva, Zaki, Maha S, Wissmann, Mariel, Win, Wathone, White, Susan M, Weisburd, Ben, Wieczorek, Dagmar, Waddell, Leigh B, Verboon, Jeffrey M, VanNoy, Grace E, Töpf, Ana, Tan, Tiong Yang, Syrbe, Steffen, Strehlow, Vincent, Straub, Volker, Stenton, Sarah L, Snow, Hana, Singer-Berk, Moriel, Silver, Josh, Shril, Shirlee, Seaby, Eleanor G, Schneider, Ronen, Sankaran, Vijay G, Sanchis-Juan, Alba, Russell, Kathryn A, Reinson, Karit, Ravenscroft, Gianina, Radtke, Maximilian, Popp, Denny, Polster, Tilman, Platzer, Konrad, Pierce, Eric A, Place, Emily M, Pajusalu, Sander, Pais, Lynn, Õunap, Katrin, Osei-Owusu, Ikeoluwa, Opperman, Henry, Okur, Volkan, Oja, Kaisa Teele, O'Leary, Melanie, O'Heir, Emily, Morel, Chantal F, Merkenschlager, Andreas, Marchant, Rhett G, Mangilog, Brian E, Madden, Jill A, MacArthur, Daniel, Lovgren, Alysia, Lerner-Ellis, Jordan P, Lin, Jasmine, Laing, Nigel, Hildebrandt, Friedhelm, Hentschel, Julia, Groopman, Emily, Goodrich, Julia, Gleeson, Joseph G, Ghaoui, Roula, Genetti, Casie A, Gburek-Augustat, Janina, Gazda, Hanna T, Ganesh, Vijay S, Ganapathi, Mythily, Gallacher, Lyndon, Fu, Jack M, Evangelista, Emily, England, Eleina, Donkervoort, Sandra, DiTroia, Stephanie, Cooper, Sandra T, Chung, Wendy K, Christodoulou, John, Chao, Katherine R, Cato, Liam D, Bujakowska, Kinga M, Bryen, Samantha J, Brand, Harrison, Bönnemann, Carsten G, Beggs, Alan H, Baxter, Samantha M, Bartolomaeus, Tobias, Agrawal, Pankaj B, Talkowski, Michael, Austin-Tse, Christina, Abou Jamra, Rami, Rehm, Heidi L, O'Donnell-Luria, Anne

المصدر: N Engl J Med ; ISSN:1533-4406 ; Volume:390 ; Issue:21

العلاقة: https://doi.org/10.1056/NEJMoa2314761Test; https://pubmed.ncbi.nlm.nih.gov/38838312Test

الإتاحة: https://doi.org/10.1056/NEJMoa2314761Test
https://pubmed.ncbi.nlm.nih.gov/38838312Test

المؤلفون: Koenig, Zan, Yohannes, Mary T, Nkambule, Lethukuthula L, Zhao, Xuefang, Goodrich, Julia K, Kim, Heesu Ally, Wilson, Michael W, Tiao, Grace, Hao, Stephanie P, Sahakian, Nareh, Chao, Katherine R, Walker, Mark A, Lyu, Yunfei, Rehm, Heidi L, Neale, Benjamin M, Talkowski, Michael E, Daly, Mark J, Brand, Harrison, Karczewski, Konrad J, Atkinson, Elizabeth G, Martin, Alicia R

المصدر: Genome Res ; ISSN:1549-5469 ; Volume:34 ; Issue:5

العلاقة: https://doi.org/10.1101/gr.278378.123Test; https://pubmed.ncbi.nlm.nih.gov/38749656Test

الإتاحة: https://doi.org/10.1101/gr.278378.123Test
https://pubmed.ncbi.nlm.nih.gov/38749656Test

المؤلفون: Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine R, Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, O'Heir, Emily, Ganesh, Vijay S, Wojcik, Monica H, Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha L, Neil, Jennifer E, Shao, Diane D, Walsh, Christopher A, Argilli, Emanuela, Le, Carolyn, Sherr, Elliott H, Gleeson, Joseph G, Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay G, Madden, Jill A, Genetti, Casie A, Beggs, Alan H, Agrawal, Pankaj B, Bujakowska, Kinga M, Place, Emily, Pierce, Eric A, Donkervoort, Sandra, Bönnemann, Carsten G, Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong Yang, White, Susan M, Töpf, Ana, Straub, Volker, Fleming, Mark D, Pollak, Martin R, Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten A, Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel G, MacArthur, Daniel G, Rehm, Heidi L, Talkowski, Michael E, Brand, Harrison, O'Donnell-Luria, Anne

المصدر: Am J Hum Genet ; ISSN:1537-6605 ; Volume:111 ; Issue:5

مصطلحات موضوعية: CNV, GATK-gCNV, copy number variant, diagnostic yield, exome, variant classification

العلاقة: https://doi.org/10.1016/j.ajhg.2024.03.008Test; https://pubmed.ncbi.nlm.nih.gov/38565148Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11080278Test/

الإتاحة: https://doi.org/10.1016/j.ajhg.2024.03.008Test
https://pubmed.ncbi.nlm.nih.gov/38565148Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11080278Test/

المؤلفون: Syeda, Safoora B., Lone, Museer A., Mohassel, Payam, Donkervoort, Sandra, Munot, Pinki, França Jr., Marcondes C., Galarza-Brito, Juan Eli, Eckenweiler, Matthias, Asamoah, Alexander, Gable, Kenneth, Majumdar, Anirban, Schumann, Anke, Gupta, Sita D., Lakhotia, Arpita, Shieh, Perry B., Foley, A. Reghan, Jackson, Kelly E., Chao, Katherine R., Winder, Thomas L., Catapano, Francesco

المصدر: Journal of Neurology, Neurosurgery & Psychiatry; Feb2024, Vol. 95 Issue 2, p103-113, 11p

مصطلحات موضوعية: AMYOTROPHIC lateral sclerosis, SPASTICITY, FAMILIAL spastic paraplegia, LIQUID chromatography-mass spectrometry