المؤلفون: Kwon, Seulki, Safer, Jordan, Nguyen, Duyen T., HOKSZA, David, MAY, Patrick, Arbesfeld, Jeremy A., Rubin, Alan F., Campbell, Arthur J., Burgin, Alex, Iqbal, Sumaiya

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: Nature Methods (2024-09-18)

مصطلحات موضوعية: Computational platforms and environments, Data integration, Databases, Proteome informatics, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: https://doi.org/10.1038/s41592-024-02409-0; urn:issn:1548-7091; urn:issn:1548-7105; https://orbilu.uni.lu/handle/10993/62062; info:hdl:10993/62062; https://orbilu.uni.lu/bitstream/10993/62062/1/Kwon2024.NatMethods.pdf

الاتاحة: https://orbilu.uni.lu/handle/10993/62062
https://orbilu.uni.lu/bitstream/10993/62062/1/Kwon2024.NatMethods.pdf
https://doi.org/10.1038/s41592-024-02409-0

المؤلفون: Placzek, Michael S., Wilton, Daniel K., Weïwer, Michel, Manter, Mariah A., Reid, Sarah E., Meyer, Christopher J., Campbell, Arthur J., Bajrami, Besnik, Bigot, Antoine, Bricault, Sarah, Fayet, Agathe, Frouin, Arnaud, Gergits, Frederick, Gupta, Mehak, Jiang, Wei, Melanson, Michelle, Romano, Chiara D., Riley, Misha M., Wang, Jessica M., Wey, Hsiao-Ying, Wagner, Florence F., Stevens, Beth, Hooker, Jacob M.

المساهمون: National Institute of Neurological Disorders and Stroke, Huntington's Disease Society of America

المصدر: ACS Central Science ; volume 10, issue 5, page 1105-1114 ; ISSN 2374-7943 2374-7951

الاتاحة: http://dx.doi.org/10.1021/acscentsci.3c01564
https://pubs.acs.org/doi/pdf/10.1021/acscentsci.3c01564

المؤلفون: Sanders, Stephan J, Campbell, Arthur J, Cottrell, Jeffrey R, Moller, Rikke S, Wagner, Florence F, Auldridge, Angie L, Bernier, Raphael A, Catterall, William A, Chung, Wendy K, Empfield, James R, George, Alfred L, Hipp, Joerg F, Khwaja, Omar, Kiskinis, Evangelos, Lal, Dennis, Malhotra, Dheeraj, Millichap, John J, Otis, Thomas S, Petrou, Steven, Pitt, Geoffrey, Schust, Leah F, Taylor, Cora M, Tjernagel, Jennifer, Spiro, John E, Bender, Kevin J

المصدر: Trends in neurosciences. 41(7)

مصطلحات موضوعية: Animals, Humans, NAV1.2 Voltage-Gated Sodium Channel, Neurodevelopmental Disorders, Na(V)1.2, autism spectrum disorder, developmental delay, epilepsy, intellectual disability, neurodevelopment, neurodevelopmental disorder, sodium channel, Neurodegenerative, Brain Disorders, Neurosciences, Genetics, Mental Health, Intellectual and Developmental Disabilities (IDD), Autism, 2.1 Biological and endogenous factors, Aetiology, Neurological, Psychology, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1b1284bd

المؤلفون: Iqbal, Sumaiya, Pérez-Palma, Eduardo, Jespersen, Jakob B., May, Patrick, Hoksza, David, Heyne, Henrike O., Ahmed, Shehab S., Rifat, Zaara T., Rahman, M. Sohel, Lage, Kasper, Palotie, Aarno, Cottrell, Jeffrey R., Wagner, Florence F., Daly, Mark J., Campbell, Arthur J., Lal, Dennis

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2020 Nov 01. 117(45), 28201-28211.

URL الوصول: https://www.jstor.org/stable/26970720

المؤلفون: Iqbal, Sumaiya, Brünger, Tobias, Pérez-Palma, Eduardo, Macnee, Marie, Brunklaus, Andreas, Daly, Mark J., Campbell, Arthur J., Hoksza, David, MAY, Patrick, Lal, Dennis

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: Brain: a Journal of Neurology, 146 (2), 519-533 (2023-02)

مصطلحات موضوعية: Neurodevelopmental diseases, genetics, bioinformatics, Human health sciences, Neurology, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Neurologie, Sciences du vivant, Génétique & processus génétiques

Relation: https://doi.org/10.1093/brain/awac381; FNR16394868 - Epileptogenesis Of Genetic Epilepsies, 2021 (01/10/2021-.) - Alexander Skupin; urn:issn:0006-8950; urn:issn:1460-2156; https://orbilu.uni.lu/handle/10993/52517; info:hdl:10993/52517; https://orbilu.uni.lu/bitstream/10993/52517/1/awac381.pdf; info:pmid:36256779; wos:000914653300001

الاتاحة: https://orbilu.uni.lu/handle/10993/52517
https://orbilu.uni.lu/bitstream/10993/52517/1/awac381.pdf
https://doi.org/10.1093/brain/awac381

المؤلفون: Ahmed, Shehab S., Rifat, Zaara T., Lohia, Ruchi, Campbell, Arthur J., Dunker, A. Keith, Rahman, M. Sohel, Iqbal, Sumaiya

المساهمون: Biochemistry and Molecular Biology, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Amino acid sequence, Genetic variation, Intrinsically disordered proteins, Protein conformation, Proteome

وصف الملف: application/pdf

Relation: PLOS COMPUTATIONAL BIOLOGY; Ahmed SS, Rifat ZT, Lohia R, et al. Characterization of intrinsically disordered regions in proteins informed by human genetic diversity. PLoS Comput Biol. 2022;18(3):e1009911. Published 2022 Mar 11. doi:10.1371/journal.pcbi.1009911; https://hdl.handle.net/1805/33339

الاتاحة: https://hdl.handle.net/1805/33339

المؤلفون: Miller, Peter G., Sathappa, Murugappan, Moroco, Jamie A., Jiang, Wei, Qian, Yue, Iqbal, Sumaiya, Guo, Qi, Giacomelli, Andrew O., Shaw, Subrata, Vernier, Camille, Bajrami, Besnik, Yang, Xiaoping, Raffier, Cerise, Sperling, Adam S., Gibson, Christopher J., Kahn, Josephine, Jin, Cyrus, Ranaghan, Matthew, Caliman, Alisha, Brousseau, Merissa, Fischer, Eric S., Lintner, Robert, Piccioni, Federica, Campbell, Arthur J., Root, David E., Garvie, Colin W., Ebert, Benjamin L.

المساهمون: U.S. Department of Health & Human Services | NIH | National Cancer Institute

المصدر: Nature Communications ; volume 13, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-022-30463-9
https://www.nature.com/articles/s41467-022-30463-9.pdf
https://www.nature.com/articles/s41467-022-30463-9

المؤلفون: Johannesen, Katrine M., Iqbal, Sumaiya, Guazzi, Milena, Mohammadi, Nazanin A., Pérez-Palma, Eduardo, Schaefer, Elise, De Saint Martin, Anne, Abiwarde, Marie Therese, McTague, Amy, Pons, Roser, Piton, Amelie, Kurian, Manju A., Ambegaonkar, Gautam, Firth, Helen, Sanchis-Juan, Alba, Deprez, Marie, Jansen, Katrien, De Waele, Liesbeth, Briltra, Eva H., Verbeek, Nienke E., van Kempen, Marjan, Fazeli, Walid, Striano, Pasquale, Zara, Federico, Visser, Gerhard, Braakman, Hilde M.H., Haeusler, Martin, Elbracht, Miriam, Vaher, Ulvi, Smol, Thomas, Lemke, Johannes R., Platzer, Konrad, Kennedy, Joanna, Klein, Karl Martin, Au, Ping Yee Billie, Smyth, Kimberly, Kaplan, Julie, Thomas, Morgan, Dewenter, Malin K., Dinopoulos, Argirios, Campbell, Arthur J., Lal, Dennis, Lederer, Damien, Liao, Vivian W.Y., Ahring, Philip K., Møller, Rikke S., Gardella, Elena

المصدر: Genetics in Medicine ; volume 24, issue 3, page 681-693 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2021.11.004
https://api.elsevier.com/content/article/PII:S109836002105382X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109836002105382X?httpAccept=text/plain

المؤلفون: Madison, Jon M, Duong, Karen, Vieux, Ellen F, Udeshi, Namrata D, Iqbal, Sumaiya, Requadt, Elise, Fereshetian, Shaunt, Lewis, Michael C, Gomes, Antonio S, Pierce, Kerry A, Platt, Randall J, Zhang, Feng, Campbell, Arthur J, Lal, Dennis, Wagner, Florence F, Clish, Clary B, Carr, Steven A, Sheng, Morgan, Scolnick, Edward M, Cottrell, Jeffrey R

المساهمون: McGovern Institute for Brain Research at MIT, Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences

المصدر: Elsevier

وصف الملف: application/pdf

Relation: iScience; https://hdl.handle.net/1721.1/138323; Madison, Jon M, Duong, Karen, Vieux, Ellen F, Udeshi, Namrata D, Iqbal, Sumaiya et al. 2021. "Regulation of purine metabolism connects KCTD13 to a metabolic disorder with autistic features." iScience, 24 (1).

الاتاحة: https://hdl.handle.net/1721.1/138323

المؤلفون: Madison, Jon M., Duong, Karen, Vieux, Ellen F., Udeshi, Namrata D., Iqbal, Sumaiya, Requadt, Elise, Fereshetian, Shaunt, Lewis, Michael C., Gomes, Antonio S., Pierce, Kerry A., Platt, Randall, id_orcid:0 000-0002-2914-7052, Zhang, Feng, Campbell, Arthur J., Lal, Dennis, Wagner, Florence F., Clish, Clary B., Carr, Steven A., Sheng, Morgan, Cottrell, Jeffrey R.

المصدر: iScience, 24 (1)

وصف الملف: application/application/pdf

Relation: info:eu-repo/semantics/altIdentifier/wos/000612996900054; http://hdl.handle.net/20.500.11850/495232

الاتاحة: https://hdl.handle.net/20.500.11850/495232
https://doi.org/10.3929/ethz-b-000495232

المؤلفون: Iqbal, Sumaiya, Hoksza, David, Perez-Palma, Eduardo, May, Patrick, Jespersen, Jakob B., Ahmed, Shehab S., Rifat, Zaara T., Heyne, Henrike O., Rahman, M. Sohel, Cottrell, Jeffrey R., Wagner, Florence F., Daly, Mark J., Campbell, Arthur J., Lal, Dennis

المساهمون: Institute for Molecular Medicine Finland, University of Helsinki, HUS Helsinki and Uusimaa Hospital District

مصطلحات موضوعية: VISUALIZATION, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: P.M. was supported by the FNR NCER-PD grant; FNR MiRisk-PD [C17/BM/1167395]; BMBF Treat-ION grant [01GM1907]; DFG Research Unit FOR2715 [FNR INTER/DFG/17/11583046]. Funding for open access charge: Institutional funding.; Iqbal , S , Hoksza , D , Perez-Palma , E , May , P , Jespersen , J B , Ahmed , S S , Rifat , Z T , Heyne , H O , Rahman , M S , Cottrell , J R , Wagner , F F , Daly , M J , Campbell , A J & Lal , D 2020 , ' MISCAST : MIssense variant to protein StruCture Analysis web SuiTe ' , Nucleic Acids Research , vol. 48 , no. W1 , pp. W132-W139 . https://doi.org/10.1093/nar/gkaa361; http://hdl.handle.net/10138/319542; c626a270-eefe-4019-a26b-40abe5668f2c; 000562474100021

الاتاحة: http://hdl.handle.net/10138/319542

المؤلفون: Brunklaus, Andreas, Du, Juanjiangmeng, Steckler, Felix, Ghanty, Ismael, I, Johannesen, Katrine, M, Fenger, Christina, Dühring, Schorge, Stephanie, Baez‐nieto, David, Wang, Hao‐ran, Allen, Andrew, Pan, Jen, Q, Lerche, Holger, Heyne, Henrike, Symonds, Joseph, D, Zuberi, Sameer, M, Sanders, Stephan, Sheidley, Beth, R, Craiu, Dana, Olson, Heather, E, Weckhuysen, Sarah, Dejonge, Peter, Helbig, Ingo, van Esch, Hilde, Busa, Tiffany, Milh, Mathieu, Isidor, Bertrand, Depienne, Christel, Poduri, Annapurna, Campbell, Arthur, J, Dimidschstein, Jordane, Møller, Rikke, S, Lal, Dennis

المساهمون: University of Glasgow, University Hospital of Cologne Cologne, University of Southern Denmark (SDU), Danish Epilepsy Center Filadelfia, University College of London London (UCL), Massachusetts Institute of Technology (MIT), Harvard University, Eberhard Karls Universität Tübingen = University of Tübingen, University of California (UC), Boston Children's Hospital, Harvard Medical School Boston (HMS), University of Medicine and Pharmacy “Carol Davila” (UMPCD), Antwerp University Hospital Edegem (UZA), University of Pennsylvania, Christian-Albrechts-Universität zu Kiel = Christian-Albrechts University of Kiel = Université Christian-Albrechts de Kiel (CAU), University Hospitals Leuven Leuven, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), University Children's Hospital of Essen, University Hospital Essen (AöR), Universität zu Köln = University of Cologne

المصدر: ISSN: 0013-9580.

مصطلحات موضوعية: epilepsy, neurodevelopmental disorders, SCN1A, SCN2A, SCN3A, SCN8A, [SDV]Life Sciences [q-bio]

الاتاحة: https://amu.hal.science/hal-03215911
https://amu.hal.science/hal-03215911v1/document
https://amu.hal.science/hal-03215911v1/file/epi.16438.pdf
https://doi.org/10.1111/epi.16438

المؤلفون: Goodspeed, Kimberly, Pérez-Palma, Eduardo, Iqbal, Sumaiya, Cooper, Dominique, Scimemi, Annalisa, Johannesen, Katrine M, Stefanski, Arthur, Demarest, Scott, Helbig, Katherine L, Kang, Jingqiong, Shaffo, Frances C, Prentice, Brandon, Brownstein, Catherine A, Lim, Byungchan, Helbig, Ingo, De Los Reyes, Emily, McKnight, Dianalee, Crunelli, Vincenzo, Campbell, Arthur J, Møller, Rikke S, Freed, Amber, Lal, Dennis

المصدر: Goodspeed , K , Pérez-Palma , E , Iqbal , S , Cooper , D , Scimemi , A , Johannesen , K M , Stefanski , A , Demarest , S , Helbig , K L , Kang , J , Shaffo , F C , Prentice , B , Brownstein , C A , Lim , B , Helbig , I , De Los Reyes , E , McKnight , D , Crunelli , V , Campbell , A J , Møller , R S , Freed , A & Lal , D 2020 , ' Current ....

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/340d2f6a-0b1a-469f-a342-503339b49841
https://doi.org/10.1093/braincomms/fcaa170
https://findresearcher.sdu.dk/ws/files/179655413/fcaa170.pdf

المؤلفون: Iqbal, Sumaiya, Hoksza, David, Pérez-Palma, Eduardo, May, Patrick, Jespersen, Jakob Berg, Ahmed, Shehab S., Rifat, Zaara T., Heyne, Henrike O., Rahman, M. Sohel, Cottrell, Jeffrey R., Wagner, Florence F., Daly, Mark J., Campbell, Arthur J., Lal, Dennis

المصدر: Iqbal , S , Hoksza , D , Pérez-Palma , E , May , P , Jespersen , J B , Ahmed , S S , Rifat , Z T , Heyne , H O , Rahman , M S , Cottrell , J R , Wagner , F F , Daly , M J , Campbell , A J & Lal , D 2020 , ' MISCAST : MIssense variant to protein StruCture Analysis web SuiTe ' , Nucleic Acids Research , vol. 48 , no. 1 , pp. W132-W139 . https://doi.org/10.1093/nar/gkaa361

وصف الملف: application/pdf

Relation: https://orbit.dtu.dk/en/publications/f5053118-9531-49fe-83d9-8546292d6f65

الاتاحة: https://orbit.dtu.dk/en/publications/f5053118-9531-49fe-83d9-8546292d6f65
https://doi.org/10.1093/nar/gkaa361
https://backend.orbit.dtu.dk/ws/files/237765187/gkaa361.pdf

المؤلفون: Reidenbach, Andrew G., Mesleh, Michael F., Casalena, Dominick, Vallabh, Sonia M., Dahlin, Jayme L., Leed, Alison J., Chan, Alix I., Usanov, Dmitry L., Yehl, Jenna B., Lemke, Christopher T., Campbell, Arthur J., Shah, Rishi N., Shrestha, Om K., Sacher, Joshua R., Rangel, Victor L., Moroco, Jamie A., Sathappa, Murugappan, Nonato, Maria Cristina, Nguyen, Kong T., Wright, S. Kirk, Liu, David R., Wagner, Florence F., Kaushik, Virendar K., Auld, Douglas S., Schreiber, Stuart L., Minikel, Eric Vallabh

المساهمون: HHS | National Institutes of Health

المصدر: Journal of Biological Chemistry ; volume 295, issue 39, page 13516-13531 ; ISSN 0021-9258

الاتاحة: http://dx.doi.org/10.1074/jbc.ra120.014905
https://api.elsevier.com/content/article/PII:S0021925817500113?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0021925817500113?httpAccept=text/plain
https://syndication.highwire.org/content/doi/10.1074/jbc.RA120.014905

المؤلفون: Ahmed, Shehab, Rifat, Zaara, Campbell, Arthur J., Dunker, A. Keith, Rahman, Sohel, Iqbal, Sumaiya

المصدر: Biophysical Journal ; volume 118, issue 3, page 5a ; ISSN 0006-3495

الاتاحة: http://dx.doi.org/10.1016/j.bpj.2019.11.220
https://api.elsevier.com/content/article/PII:S000634951931149X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S000634951931149X?httpAccept=text/plain

المؤلفون: Rifat, Zaara, Ahmed, Shehab, Campbell, Arthur J., Dunker, A. Keith, Rahman, Sohel, Iqbal, Sumaiya

المصدر: Biophysical Journal ; volume 118, issue 3, page 537a ; ISSN 0006-3495

الاتاحة: http://dx.doi.org/10.1016/j.bpj.2019.11.2942
https://api.elsevier.com/content/article/PII:S0006349519338755?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0006349519338755?httpAccept=text/plain

المؤلفون: Iqbal, Sumaiya, Jespersen, Jakob Berg, Perez-Palma, Eduardo, Mayo, Patrick, Heyne, Henrike, Lage, Kasper, Moller, Rikke Steensbjerre, Wagner, Florence F., Daly, Mark, Campbell, Arthur J., Lal, Dennis

المصدر: Iqbal , S , Jespersen , J B , Perez-Palma , E , Mayo , P , Heyne , H , Lage , K , Moller , R S , Wagner , F F , Daly , M , Campbell , A J & Lal , D 2018 , ' Identification and Characterization of Variant Intolerant Sites across Human Protein 3-Dimensional Structures ' , Biophysical Journal , vol. 114 , no. 3, Suppl. 1 , pp. 664A . https://doi.org/10.1016/j.bpj.2017.11.3583

Relation: https://portal.findresearcher.sdu.dk/da/publications/46ad81f1-ddf7-4b39-83e0-127e61f0ab13

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/46ad81f1-ddf7-4b39-83e0-127e61f0ab13
https://doi.org/10.1016/j.bpj.2017.11.3583

المؤلفون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Fonds National de la Recherche - FnR [sponsor], DFG [sponsor], BMBF [sponsor], Iqbal, Sumaiya, Brünger, Tobias, Pérez-Palma, Eduardo, Macnee, Marie, Brunklaus, Andreas, Daly, Mark J., Campbell, Arthur J., Hoksza, David, May, Patrick, Lal, Dennis

مصطلحات الفهرس: Neurodevelopmental diseases, genetics, bioinformatics, info:eu-repo/semantics/article

URL: https://doi.org/10.1093/brain/awac381
http://orbilu.uni.lu/handle/10993/52517
http://orbilu.uni.lu/bitstream/10993/52517/1/awac381.pdf

المؤلفون: Iqbal, Sumaiya, Berg Jespersen, Jakob, Perez-Palma, Eduardo, May, Patrick, Palotie, Aarno, Cottrell, Jeffrey R., Wagner, Florence F., Daly, Mark J., Campbell, Arthur J., Lal, Dennis

المصدر: Biophysical Journal ; volume 116, issue 3, page 420a-421a ; ISSN 0006-3495

الاتاحة: http://dx.doi.org/10.1016/j.bpj.2018.11.2266
https://api.elsevier.com/content/article/PII:S0006349518335318?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0006349518335318?httpAccept=text/plain