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1دورية أكاديمية
المؤلفون: He, Dandan, Jiang, Yingjun, Peng, Yuandong, Wen, Yaran, Yang, Jun, Zhou, Ying, Lattier, John, Meng, Linyan, Luo, Xi
المصدر: Genetics in Medicine Open ; volume 2, page 101634 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101634Test
https://api.elsevier.com/content/article/PII:S2949774424007805?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424007805?httpAccept=text/plainTest -
2دورية أكاديمية
المؤلفون: Yang, Jun, Chen, Tiansheng, Kao, Eric, Dong, Jie, Lattier, John, Dai, Hongzheng, Meng, Linyan, Xia, Fan, Schmitt, Eric, Peacock, Sandra, Craigen, William, Rigobello, Robert, Wong, Lee-Jun, Eng, Christine, Wang, Yue
المصدر: Genetics in Medicine Open ; volume 2, page 101626 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101626Test
https://api.elsevier.com/content/article/PII:S2949774424007726?httpAccept=text/xmlTest
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3دورية أكاديمية
المؤلفون: Souter, Vivienne, Armentti, Erin, Armer-Cabral, Madeleine, Becraft, Emily, Saucier, Jennifer, Repass, Elizabeth, Meng, Linyan, Benn, Peter, Wang, Yang
المصدر: Genetics in Medicine Open ; volume 2, page 101585 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101585Test
https://api.elsevier.com/content/article/PII:S2949774424007313?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424007313?httpAccept=text/plainTest -
4دورية أكاديمية
المؤلفون: Saeidian, Amir Hossein, Vossaert, Liesbeth, Mizerik, Elizabeth, Wu, Wilson CW., Dai, Hongzheng, Owen, Nichole, Smith, Janice, Meng, Linyan, Eng, Christine, Xia, Fan, Bi, Weimin, Zhao, Xiaonan
المصدر: Genetics in Medicine Open ; volume 2, page 101586 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101586Test
https://api.elsevier.com/content/article/PII:S2949774424007325?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424007325?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Gu, Shen, Ho, Nicolas, Ding, Lipeng, Lin, Yijyun, Meng, Linyan
المصدر: Genetics in Medicine Open ; volume 2, page 101011 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101011Test
https://api.elsevier.com/content/article/PII:S2949774424001572?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424001572?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Genomics England Research Consortium, Rots, Dmitrijs, Jakub, Taryn E., Keung, Crystal, Jackson, Adam, Banka, Siddharth, Pfundt, Rolph, de Vries, Bert B.A., van Jaarsveld, Richard H., Hopman, Saskia M.J., van Binsbergen, Ellen, Valenzuela, Irene, Hempel, Maja, Bierhals, Tatjana, Kortüm, Fanny, Lecoquierre, Francois, Goldenberg, Alice, Hertz, Jens Michael, Andersen, Charlotte Brasch, Kibæk, Maria, Prijoles, Eloise J., Stevenson, Roger E., Everman, David B., Patterson, Wesley G., Meng, Linyan, Gijavanekar, Charul, De Dios, Karl, Lakhani, Shenela, Levy, Tess, Wagner, Matias, Wieczorek, Dagmar, Benke, Paul J., Lopez Garcia, María Soledad, Perrier, Renee, Sousa, Sergio B., Almeida, Pedro M., Simões, Maria José, Isidor, Bertrand, Deb, Wallid, Schmanski, Andrew A., Abdul-Rahman, Omar, Philippe, Christophe, Bruel, Ange Line, Faivre, Laurence, Vitobello, Antonio, Thauvin, Christel, Smits, Jeroen J., Garavelli, Livia, Caraffi, Stefano G., Peluso, Francesca, Puura, Kaija
المساهمون: Tampere University, Clinical Medicine, LAPS, Child psychiatry
مصطلحات موضوعية: 3124 Neurology and psychiatry, 3123 Gynaecology and paediatrics
وصف الملف: fulltext
العلاقة: 110; https://trepo.tuni.fi/handle/10024/153083Test; URN:NBN:fi:tuni-202307057079
الإتاحة: https://doi.org/10.1016/j.ajhg.2023.04.008Test
https://trepo.tuni.fi/handle/10024/153083Test -
7دورية أكاديمية
المؤلفون: Rots, Dmitrijs, Jakub, Taryn E., Keung, Crystal, Jackson, Adam, Banka, Siddharth, Pfundt, Rolph, de Vries, Bert B.A., van Jaarsveld, Richard H., Hopman, Saskia M.J., van Binsbergen, Ellen, Valenzuela, Irene, Hempel, Maja, Bierhals, Tatjana, Kortüm, Fanny, Lecoquierre, Francois, Goldenberg, Alice, Hertz, Jens Michael, Andersen, Charlotte Brasch, Kibæk, Maria, Prijoles, Eloise J., Stevenson, Roger E., Everman, David B., Patterson, Wesley G., Meng, Linyan, Gijavanekar, Charul, De Dios, Karl, Lakhani, Shenela, Levy, Tess, Wagner, Matias, Wieczorek, Dagmar, Benke, Paul J., Lopez Garcia, María Soledad, Perrier, Renee, Sousa, Sergio B., Almeida, Pedro M., Simões, Maria José, Isidor, Bertrand, Deb, Wallid, Schmanski, Andrew A., Abdul-Rahman, Omar, Philippe, Christophe, Bruel, Ange Line, Faivre, Laurence, Vitobello, Antonio, Thauvin, Christel, Smits, Jeroen J., Garavelli, Livia, Caraffi, Stefano G., Leeuwen, Lisette, Bosch, Daniëlle G.M.
المصدر: Rots , D , Jakub , T E , Genomics England Research Consortium , Keung , C , Jackson , A , Banka , S , Pfundt , R , de Vries , B B A , van Jaarsveld , R H , Hopman , S M J , van Binsbergen , E , Valenzuela , I , Hempel , M , Bierhals , T , Kortüm , F , Lecoquierre , F , Goldenberg , A , Hertz , J M , Andersen , C B , Kibæk , M , Prijoles , E J , Stevenson , ....
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
الإتاحة: https://doi.org/10.1016/j.ajhg.2023.04.008Test
https://pure.eur.nl/en/publications/6596bf6e-36db-4d2c-abc0-82dda68046f0Test
http://www.scopus.com/inward/record.url?scp=85160282099&partnerID=8YFLogxKTest -
8دورية أكاديمية
المؤلفون: Maroofian, Reza, Kaiyrzhanov, Rauan, Cali, Elisa, Zamani, Mina, Zaki, Maha S., Ferla, Matteo, Tortora, Domenico, Sadeghian, Saeid, Saadi, Saadia Maryam, Abdullah, Uzma, Karimiani, Ehsan Ghayoor, Efthymiou, Stephanie, Yeşil, Gözde, Alavi, Shahryar, Al Shamsi, Aisha M., Tajsharghi, Homa, Abdel-Hamid, Mohamed S., Saadi, Nebal Waill, Al Mutairi, Fuad, Alabdi, Lama, Beetz, Christian, Ali, Zafar, Toosi, Mehran Beiraghi, Rudnik-Schöneborn, Sabine, Babaei, Meisam, Isohanni, Pirjo, Muhammad, Jameel, Khan, Sheraz, Al Shalan, Maha, Hickey, Scott E., Marom, Daphna, Elhanan, Emil, Kurian, Manju A., Marafi, Dana, Saberi, Alihossein, Hamid, Mohammad, Spaull, Robert, Meng, Linyan, Lalani, Seema, Maqbool, Shazia, Rahman, Fatima, Seeger, Jürgen, Palculict, Timothy Blake, Lau, Tracy, Murphy, David, Mencacci, Niccolo Emanuele, Steindl, Katharina, Begemann, Anais, Rauch, Anita, Akbas, Sinan, Aslanger, Ayça Dilruba, Salpietro, Vincenzo, Yousaf, Hammad, Ben-Shachar, Shay, Ejeskär, Katarina, Al Aqeel, Aida I., High, Frances A., Armstrong-Javors, Amy E., Zahraei, Seyed Mohammadsaleh, Seifi, Tahereh, Zeighami, Jawaher, Shariati, Gholamreza, Sedaghat, Alireza, Asl, Samaneh Noroozi, Shahrooei, Mohmmad, Zifarelli, Giovanni, Burglen, Lydie, Ravelli, Claudia, Zschocke, Johannes, Schatz, Ulrich A., Ghavideldarestani, Maryam, Kamel, Walaa A., Van Esch, Hilde, Hackenberg, Annette, Taylor, Jenny C., Al-Gazali, Lihadh, Bauer, Peter, Gleeson, Joseph J., Alkuraya, Fowzan Sami, Lupski, James R., Galehdari, Hamid, Azizimalamiri, Reza, Chung, Wendy K., Baig, Shahid Mahmood, Houlden, Henry, Severino, Mariasavina
المساهمون: HUS Children and Adolescents, Research Programs Unit, Anu Wartiovaara / Principal Investigator, Children's Hospital, Clinicum, STEMM - Stem Cells and Metabolism Research Program, Lastenneurologian yksikkö
مصطلحات موضوعية: gene transcription, dystonia, cerebello-lental degeneration, mediator complex, cerebellar atrophy, neurodevelopmental disorders, Neurosciences, Neurology and psychiatry
وصف الملف: application/pdf
العلاقة: Part of this research was possible thanks to the Deciphering Developmental Disorders (DDD) study. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003). R.K. was supported by the European Academy of Neurology Research Training Fellowship and Rosetrees Trust PhD Plus award (PhD2022\100042). J.R.L. was supported by the National Institute for Neurological Disorders and Stroke Research Program Award R35 NS105078 and the Baylor College of Medicine-GREGoR Program (NHGRI U01 HG001758). H.T. was supported by the European Union's Seventh Framework Programme for research, technological development and demonstration under grant agreement no. 608473. M.A.K. and R.S. were supported by a National Institute for Health Research professorship, Sir Jules Thorn Charitable Trust Award for Biomedical Research and the Rosetrees Trust. This study was also supported by the Wellcome Trust (WT093205MA and WT104033AIA), the Medical Research Council (H.H.), European Union's Seventh Framework Programme (FP7/2007-2013, under grant agreement no. 2012-305121), the National Institute for Health Research (NIHR), University College London Hospitals (UCLH) and UCLH Biomedical Research Centre (BRC). For the purpose of Open Access, the author has applied a CC BY public copyright license to any Author Accepted Manuscript version arising from this submission. The NIHR Oxford Biomedical Research Centre Programme and a Wellcome Trust Core Award (203141/Z/16/Z). P.I. was supported by Foundation for Pediatric Research.; Maroofian , R , Kaiyrzhanov , R , Cali , E , Zamani , M , Zaki , M S , Ferla , M , Tortora , D , Sadeghian , S , Saadi , S M , Abdullah , U , Karimiani , E G , Efthymiou , S , Yeşil , G , Alavi , S , Al Shamsi , A M , Tajsharghi , H , Abdel-Hamid , M S , Saadi , N W , Al Mutairi , F , Alabdi , L , Beetz , C , Ali , Z , Toosi , M B , Rudnik-Schöneborn , S , Babaei , M , Isohanni , P , Muhammad , J , Khan , S , Al Shalan , M , Hickey , S E , Marom , D , Elhanan , E , Kurian , M A , Marafi , D , Saberi , A , Hamid , M , Spaull , R , Meng , L , Lalani , S , Maqbool , S , Rahman , F , Seeger , J , Palculict , T B , Lau , T , Murphy , D , Mencacci , N E , Steindl , K , Begemann , A , Rauch , A , Akbas , S , Aslanger , A D , Salpietro , V , Yousaf , H , Ben-Shachar , S , Ejeskär , K , Al Aqeel , A I , High , F A , Armstrong-Javors , A E , Zahraei , S M , Seifi , T , Zeighami , J , Shariati , G , Sedaghat , A , Asl , S N , Shahrooei , M , Zifarelli , G , Burglen , L , Ravelli , C , Zschocke , J , Schatz , U A , Ghavideldarestani , M , Kamel , W A , Van Esch , H , Hackenberg , A , Taylor , J C , Al-Gazali , L , Bauer , P , Gleeson , J J , Alkuraya , F S , Lupski , J R , Galehdari , H , Azizimalamiri , R , Chung , W K , Baig , S M , Houlden , H & Severino , M 2023 , ' Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders ' , Brain : a journal of neurology , vol. 146 , no. 12 , pp. 5031-5043 . https://doi.org/10.1093/brain/awad257Test; http://hdl.handle.net/10138/568412Test; cef0036f-74a3-459b-a724-99441128fe19; 85178648913; 001106767600001
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9دورية أكاديمية
المؤلفون: Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Bearden, David R, Stray-Pedersen, Asbjorg, Busk, Oyvind L, Stong, Nicholas, Liston, Eriskay, Cohn, Ronald D, Scaglia, Fernando, Rosenfeld, Jill A, Tarpinian, Jennifer, Skraban, Cara M, Deardorff, Matthew A, Friedman, Jeremy N, Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A, Kranz, Peter G, Jasien, Joan, McConkie-Rosell, Allyn, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Nelson, Stanley F, Lee, Hane, Dorrani, Naghmeh, Goldstein, David B, Xiao, Rui, Yang, Yaping, Posey, Jennifer E, Martinez-Agosto, Julian A, Lupski, James R, Wangler, Michael F, Shashi, Vandana, Grody, Wayne W, Strom, Samuel P, Vilain, Eric, Deignan, Joshua, Quintero-Rivera, Fabiola, Kantarci, Sibel, Mullegama, Sureni, Kang, Sung-Hae, Alejandro, Mercedes E, Bacino, Carlos A, Balasubramanyam, Ashok, Burrage, Lindsay C, Clark, Gary D, Craigen, William J, Dhar, Shweta U, Emrick, Lisa T, Graham, Brett H, Hanchard, Neil A, Jain, Mahim, Lalani, Seema R, Lee, Brendan H, Lewis, Richard A, Mashid, Azamian S, Moretti, Paolo M, Nicholas, Sarah K, Orange, Jordan S, Potocki, Lorraine, Scott, Daryl A, Tran, Alyssa A, Bellen, Hugo J, Yamamoto, Shinya, Eng, Christine M, Muzny, Donna M, Ward, Patricia A, Gropman, Andrea L, Jiang, Yong-hui, Pena, Loren DM, Spillmann, Rebecca C, Sullivan, Jennifer A, Walley, Nicole M, Beggs, Alan H, Briere, Lauren C, Cooper, Cynthia M, Donnell-Fink, Laurel A, Krieg, Elizabeth L, Krier, Joel B, Lincoln, Sharyn A
المصدر: American Journal of Human Genetics. 100(2)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Neurosciences, Pediatric, Brain Disorders, Neurodegenerative, Epilepsy, Intellectual and Developmental Disabilities (IDD), Human Genome, 2.1 Biological and endogenous factors, Aetiology, Neurological, Alleles, Amino Acid Sequence, Brain, Cataract, Child, Child, Preschool, Female, Genetic Variation, Genome-Wide Association Study, Humans, Infant, Intellectual Disability, Magnetic Resonance Imaging, Male, Microcephaly, Mutation, Missense, Neoplasm Proteins, Pedigree, Phenotype, Repressor Proteins, Spasms, Infantile, UCLA Clinical Genomics Center, Undiagnosed Diseases Network, NACC1, cataracts, developmental/intellectual disabilities, epilepsy, irritability, microcephaly, stereotypy, whole-exome sequencing, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7290n3b3Test
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10دورية أكاديمية
المؤلفون: Meng, Linyan, Isohanni, Pirjo, Shao, Yunru, Graham, Brett H., Hickey, Scott E., Brooks, Stephanie, Suomalainen, Anu, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Hackenberg, Annette, High, Frances A., Armstrong-Javors, Amy, Mencacci, Niccolo E., Gonzalez-Latapi, Paulina, Kamel, Walaa A., Al-Hashel, Jasem Y., Bustos, Bernabe, Hernandez, Alejandro, Krainc, Dimitri, Lubbe, Steven J., Van Esch, Hilde, De Luca, Chiara, Ballon, Katleen, Ravelli, Claudia, Burglen, Lydie, Qebibo, Leila, Calame, Daniel G., Mitani, Tadahiro, Marafi, Dana, Pehlivan, Davut, Saadi, Nebal W., Sahin, Yavuz, Maroofian, Reza, Efthymiou, Stephanie, Houlden, Henry, Maqbool, Shazia, Rahman, Fatima, Gu, Shen, Posey, Jennifer E., Lupski, James R., Hunter, Jill, Wangler, Michael F., Carroll, Christopher J., Yang, Yaping
المساهمون: HUS Children and Adolescents, Research Programs Unit, Anu Wartiovaara / Principal Investigator, Children's Hospital, Clinicum, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Lastenneurologian yksikkö, Helsinki University Hospital Area, HUS Helsinki and Uusimaa Hospital District, FinMIT Centre of Excellence (Wartiovaara Anu)
مصطلحات موضوعية: 3112 Neurosciences, 3124 Neurology and psychiatry
وصف الملف: application/pdf
العلاقة: N.E.M. is supported by a Parkinson's Foundation grant. P.I. is supported by the Foundation for Pediatric Research. D.K. is supported by the Simpson Querrey Center for Neurogenetics. Biospecimens used in the analyses presented in this article were obtained from the Northwestern University Movement Disorders Center (MDC) Biorepository. As such, the investigators within MDC Biorepository contributed to the design and implementation of the MDC Biorepository and/or provided data and collected biospecimens but did not participate in the analysis or writing of this report. MDC Biorepository investigators include Tanya Simuni, MD; Dimitri Krainc, MD, PhD; Opal Puneet, MD, PhD; Cindy Zadikoff, MD; Onur Melen, MD; Danny Bega, MD; Roneil G. Malkani, MD; Steven Lubbe, PhD; Niccolo E. Mencacci, MD, PhD; Christina Zelano, PhD; Joanna Blackburn, MD; Firas Wehbe, MD, PhD; Lisa Kinsley, MS, CGC; and Tina Ward, MS. A gift from the Malkin family generously supported the work of the MDC Biorepository. J.R.L. is supported by a grant from the National Human Genome Research Institute (NHGRI) and National Heart, Lung, and Blood Institute (NHLBI) to the Baylor-Hopkins Center for Mendelian Genomics (UM1 HG006542); a National Institute of Neurological Disorders and Stroke grant (R35NS105078); and an Muscular Dystrophy Association grant (512848). T.M. is supported by the Uehara Memorial Foundation. D.M. is supported by a Medical Genetics Research Fellowship Program through the National Institute of General Medical Sciences (NIGMS) at US NIH (T32 GM007526-42). D.P. is supported by a Clinical Research Training Scholarship in Neuromuscular Disease partnered by the American Brain Foundation and Muscle Study Group, and the International Rett Syndrome Foundation (grant #3701-1). J.E.P. was supported by NHGRI K08 HG008986.; Meng , L , Isohanni , P , Shao , Y , Graham , B H , Hickey , S E , Brooks , S , Suomalainen , A , Joset , P , Steindl , K , Rauch , A , Hackenberg , A , High , F A , Armstrong-Javors , A , Mencacci , N E , Gonzalez-Latapi , P , Kamel , W A , Al-Hashel , J Y , Bustos , B , Hernandez , A , Krainc , D , Lubbe , S J , Van Esch , H , De Luca , C , Ballon , K , Ravelli , C , Burglen , L , Qebibo , L , Calame , D G , Mitani , T , Marafi , D , Pehlivan , D , Saadi , N W , Sahin , Y , Maroofian , R , Efthymiou , S , Houlden , H , Maqbool , S , Rahman , F , Gu , S , Posey , J E , Lupski , J R , Hunter , J , Wangler , M F , Carroll , C J & Yang , Y 2021 , ' MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia ' , Annals of Neurology , vol. 89 , no. 4 , pp. 828-833 . https://doi.org/10.1002/ana.26019Test; e43a87eb-1dd1-4a12-b9f7-3133b8f49cdc; http://hdl.handle.net/10138/340557Test; 000615954700001