المؤلفون: Acharya, Anushree, Kavus, Haluk, Dunn, Patrick, Nasir, Abdul, Folk, Leandra, Withrow, Kara, Wentzensen, Ingrid M., Ruzhnikov, Maura R. Z., Fallot, Camille, Smol, Thomas, Rama, Melanie, Brown, Kathleen, Whalen, Sandra, Ziegler, Alban, Barth, Magali, Chassevent, Anna, Smith-Hicks, Constance, Afenjar, Alexandra, Courtin, Thomas, Heide, Solveig, Font-Montgomery, Esperanza, Heid, Caleb, Hamm, J. Austin, Love, Donald R., Thabet, Farouq, Misra, Vinod K., Cunningham, Mitch, Leal, Suzanne M., Järvelä, Irma, Normand, Elizabeth A., Zou, Fanggeng, Helal, Mayada, Keren, Boris, Torti, Erin, Chung, Wendy K., Schrauwen, Isabelle

المساهمون: Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics

مصطلحات موضوعية: neurology, genetic variation, phenotype, human genetics, INTELLECTUAL DISABILITY, UBIQUITIN LIGASE, VARIANTS, HECW2, MUTATIONS, NEDL2, GENETICS, GENES, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: WKC is funded by grants from the JPB Foundation and Simons Foundation. IS is supported by a pilot grant from the Columbia University Sergievsky Center.; Acharya , A , Kavus , H , Dunn , P , Nasir , A , Folk , L , Withrow , K , Wentzensen , I M , Ruzhnikov , M R Z , Fallot , C , Smol , T , Rama , M , Brown , K , Whalen , S , Ziegler , A , Barth , M , Chassevent , A , Smith-Hicks , C , Afenjar , A , Courtin , T , Heide , S , Font-Montgomery , E , Heid , C , Hamm , J A , Love , D R , Thabet , F , Misra , V K , Cunningham , M , Leal , S M , Järvelä , I , Normand , E A , Zou , F , Helal , M , Keren , B , Torti , E , Chung , W K & Schrauwen , I 2022 , ' Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders ' , Journal of Medical Genetics , vol. 59 , pp. 669–677 . https://doi.org/10.1136/jmedgenet-2021-107871Test; ORCID: /0000-0002-1770-6187/work/127003138; e3ee1496-7280-490f-9cbe-b4337608689c; http://hdl.handle.net/10138/353339Test; 000728118500001

الإتاحة: http://hdl.handle.net/10138/353339Test

المؤلفون: Brimble, Elise, Reyes, Kathryn G., Kuhathaas, Kopika, Devinsky, Orrin, Ruzhnikov, Maura R. Z., Ortiz-Gonzalez, Xilma R., Scheffer, Ingrid, Bahi-Buisson, Nadia, Olson, Heather

المساهمون: FOXG1 Research Foundation

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-023-02745-yTest

المؤلفون: Dahimene, Shehrazade, von Elsner, Leonie, Holling, Tess, Mattas, Lauren S, Pickard, Jess, Lessel, Davor, Pilch, Kjara S, Kadurin, Ivan, Pratt, Wendy S, Zhulin, Igor B, Dai, Hongzheng, Hempel, Maja, Ruzhnikov, Maura R Z, Kutsche, Kerstin, Dolphin, Annette C

المساهمون: Wellcome Trust, National Institutes of Health, Deutsche Forschungsgemeinschaft

المصدر: Brain ; volume 145, issue 8, page 2721-2729 ; ISSN 0006-8950 1460-2156

الإتاحة: https://doi.org/10.1093/brain/awac081Test
https://academic.oup.com/brain/article-pdf/145/8/2721/45599830/awac081.pdfTest

المؤلفون: Gates, Ryan W., Webb, Bryn D., Stevenson, David A., Jabs, Ethylin Wang, DeFilippo, Colette, Ruzhnikov, Maura R. Z., Tise, Christina G.

المصدر: American Journal of Medical Genetics. Part A; Nov2023, Vol. 191 Issue 11, p2743-2748, 6p

المؤلفون: Acharya, Anushree, Kavus, Haluk, Dunn, Patrick, Nasir, Abdul, Folk, Leandra, Withrow, Kara, Wentzensen, Ingrid, M, Ruzhnikov, Maura, R Z, Fallot, Camille, Smol, Thomas, Rama, Mélanie, Brown, Kathleen, Whalen, Sandra, Ziegler, Alban, Barth, Magali, Chassevent, Anna, Smith-Hicks, Constance, Afenjar, Alexandra, Courtin, Thomas, Heide, Solveig, Font-Montgomery, Esperanza, Heid, Caleb, Hamm, J. Austin, Love, Donald, R, Thabet, Farouq, Misra, Vinod, K, Cunningham, Mitch, Leal, Suzanne, M, Jarvela, Irma, Normand, Elizabeth, A, Zou, Fanggeng, Helal, Mayada, Keren, Boris, Torti, Erin, Chung, Wendy, K, Schrauwen, Isabelle

المساهمون: Columbia University Medical Center (CUMC), Columbia University New York, The George Washington University (GW), University of Agriculture Faisalabad - UAF (PAKISTAN), GeneDx Gaithersburg, MD, USA, Stanford University, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Institut de génétique médicale, University of Colorado Anschutz Aurora, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Kennedy Krieger Institute Baltimore, Johns Hopkins University School of Medicine Baltimore, CHU Pitié-Salpêtrière AP-HP, University of Missouri Columbia (Mizzou), University of Missouri System, Sidra Medicine Doha, Qatar, Children's Hospital of Michigan, Central Michigan University (CMU), Helsingin yliopisto = Helsingfors universitet = University of Helsinki

المصدر: ISSN: 0022-2593.

مصطلحات موضوعية: genetic variation, human genetics, neurology, phenotype, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34321324; hal-03998194; https://hal.science/hal-03998194Test; https://hal.science/hal-03998194/documentTest; https://hal.science/hal-03998194/file/HECW2_main_Tables_updated.pdfTest; PUBMED: 34321324

الإتاحة: https://doi.org/10.1136/jmedgenet-2021-107871Test
https://hal.science/hal-03998194Test
https://hal.science/hal-03998194/documentTest
https://hal.science/hal-03998194/file/HECW2_main_Tables_updated.pdfTest

المؤلفون: Weerts, Marjolein J A, Lanko, Kristina, Guzmán-Vega, Francisco J., Jackson, Adam, Ramakrishnan, Reshmi, Cardona-Londoño, Kelly J, Peña-Guerra, Karla A, van Bever, Yolande, van Paassen, Barbara W, Kievit, Anneke, van Slegtenhorst, Marjon, Allen, Nicholas M, Kehoe, Caroline M, Robinson, Hannah K, Pang, Lewis, Banu, Selina H, Zaman, Mashaya, Efthymiou, Stephanie, Houlden, Henry, Järvelä, Irma, Lauronen, Leena, Määttä, Tuomo, Schrauwen, Isabelle, Leal, Suzanne M, Ruivenkamp, Claudia A L, Barge-Schaapveld, Daniela Q C M, Peeters-Scholte, Cacha M P C D, Galehdari, Hamid, Mazaheri, Neda, Sisodiya, Sanjay M, Harrison, Victoria, Sun, Angela, Thies, Jenny, Pedroza, Luis Alberto, Lara-Taranchenko, Yana, Chinn, Ivan K, Lupski, James R, Garza-Flores, Alexandra, McGlothlin, Jeffery, Yang, Lin, Huang, Shaoping, Wang, Xiaodong, Jewett, Tamison, Rosso, Gretchen, Lin, Xi, Mohammed, Shehla, Merritt, J Lawrence, Mirzaa, Ghayda M, Timms, Andrew E, Scheck, Joshua, Elting, Mariet W, Polstra, Abeltje M, Schenck, Lauren, Ruzhnikov, Maura R Z, Vetro, Annalisa, Montomoli, Martino, Guerrini, Renzo, Koboldt, Daniel C, Mosher, Theresa Mihalic, Pastore, Matthew T, McBride, Kim L, Peng, Jing, Pan, Zou, Willemsen, Marjolein, Koning, Susanne, Turnpenny, Peter D, de Vries, Bert B A, Gilissen, Christian, Pfundt, Rolph, Lees, Melissa, Braddock, Stephen R, Klemp, Kara C, Vansenne, Fleur, van Gijn, Marielle E, Quindipan, Catherine, Deardorff, Matthew A, Hamm, J Austin, Putnam, Abbey M, Baud, Rebecca, Walsh, Laurence, Lynch, Sally A, Baptista, Julia, Person, Richard E, Monaghan, Kristin G, Crunk, Amy, Keller-Ramey, Jennifer, Reich, Adi, Elloumi, Houda Zghal, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Haghshenas, Sadegheh, Genomics England Research Consortium, Maroofian, Reza, Sadikovic, Bekim, Banka, Siddharth, Barakat, Tahsin Stefan

المساهمون: Bioengineering, Biological and Environmental Science and Engineering (BESE) Division, Bioscience Program, Computational Bioscience Research Center (CBRC), Structural Biology and Engineering

وصف الملف: application/pdf

العلاقة: https://www.nature.com/articles/s41436-021-01246-2Test; Weerts, M. J. A., Lanko, K., Guzmán-Vega, F. J., Jackson, A., Ramakrishnan, R., Cardona-Londoño, K. J., … Kievit, A. (2021). Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genetics in Medicine. doi:10.1038/s41436-021-01246-2; Genetics in Medicine; http://hdl.handle.net/10754/667662Test

الإتاحة: https://doi.org/10.1038/s41436-021-01246-2Test
http://hdl.handle.net/10754/667662Test

المؤلفون: Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M. H. F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M. P. C. D., Terhal, Paulien A., van Gassen, Koen L., Verbeek, Nienke, Henry, Sonja, Schwoerer, Jessica Scott, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R., Macnamara, Ellen, Braakman, Hilde M. H., Brimble, Elise, Ruzhnikov, Maura R. Z., Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B. A., Gordon, Christopher T., Janssens, Veerle, Vissers, Lisenka E. L. M.

المصدر: Reynhout , S , Jansen , S , Haesen , D , van Belle , S , de Munnik , S A , Bongers , E M H F , Schieving , J H , Marcelis , C , Amiel , J , Rio , M , Mclaughlin , H , Ladda , R , Sell , S , Kriek , M , Peeters-Scholte , C M P C D , Terhal , P A , van Gassen , K L , Verbeek , N , Henry , S , Schwoerer , J S , Malik , S , ....

العلاقة: https://research.vumc.nl/en/publications/3e5e41f5-4f10-4716-935f-83bcc88c631bTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.01.003Test
https://doi.org/10.1016/j.ajhg.2018.12.002Test
https://research.vumc.nl/en/publications/3e5e41f5-4f10-4716-935f-83bcc88c631bTest
http://www.scopus.com/inward/record.url?scp=85059846107&partnerID=8YFLogxKTest

المؤلفون: Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A, Bongers, Ernie M H F, Schieving, Jolanda H, Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M P C D, Terhal, Paulien A, van Gassen, Koen L, Verbeek, Nienke, Henry, Sonja, Scott Schwoerer, Jessica, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R, Macnamara, Ellen, Braakman, Hilde M H, Brimble, Elise, Ruzhnikov, Maura R Z, Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B A, Gordon, Christopher T, Janssens, Veerle, Vissers, Lisenka E L M

المساهمون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - SSS/IREC/SLUC - Pôle St.-Luc

المصدر: American journal of human genetics, Vol. 104, no. 1, p. 139-156 (2019)

مصطلحات موضوعية: Adolescent, Child, Preschool, DNA Mutational Analysis, Female, HEK293 Cells, Haploinsufficiency, Humans, Intellectual Disability, Male, Mutation, Protein Binding, Protein Phosphatase 2, Protein Subunits, Syndrome, PP2A, PP2A-related neurodevelopmental disorders, PPP2CA, de novo mutation, epilepsy

العلاقة: boreal:222165; http://hdl.handle.net/2078.1/222165Test; info:pmid/30595372; urn:ISSN:0002-9297; urn:EISSN:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.12.002Test
http://hdl.handle.net/2078.1/222165Test

المؤلفون: Brimble, Elise, Reyes, Kathryn G., Kuhathaas, Kopika, Devinsky, Orrin, Ruzhnikov, Maura R. Z., Ortiz-Gonzalez, Xilma R., Scheffer, Ingrid, Bahi-Buisson, Nadia, Olson, Heather

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28ccdc238fdeb0b03198030eb5ed9818Test

المؤلفون: Schymick, Jennifer, Leahy, Peter, Cowan, Tina, Ruzhnikov, Maura R. Z., Gates, Ryan, Fernandez, Liliana, Pramanik, Gopal, Yarlagadda, Vamsi, Wheeler, Matthew, Bernstein, Jonathan A., Enns, Gregory M., Lee, Chung

المساهمون: National Institutes of Health, NIH Office of the Director, Office of Strategic Coordination

المصدر: American Journal of Medical Genetics Part A ; volume 188, issue 2, page 473-487 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.62543Test