SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Autor: Amélie Cordovado, Martina Schaettin, Médéric Jeanne, Veranika Panasenkava, Anne-Sophie Denommé-Pichon, Boris Keren, Cyril Mignot, Martine Doco-Fenzy, Lance Rodan, Keri Ramsey, Vinodh Narayanan, Julie R Jones, Eloise J Prijoles, Wendy G Mitchell, Jillian R Ozmore, Kali Juliette, Erin Torti, Elizabeth A Normand, Leslie Granger, Andrea K Petersen, Margaret G Au, Juliann P Matheny, Chanika Phornphutkul, Mary-Kathryn Chambers, Joaquín-Alejandro Fernández-Ramos, Eduardo López-Laso, Michael C Kruer, Somayeh Bakhtiari, Marcella Zollino, Manuela Morleo, Giuseppe Marangi, Davide Mei, Tiziana Pisano, Renzo Guerrini, Raymond J Louie, Anna Childers, David B Everman, Betrand Isidor, Séverine Audebert-Bellanger, Sylvie Odent, Dominique Bonneau, Brigitte Gilbert-Dussardier, Richard Redon, Stéphane Bézieau, Frédéric Laumonnier, Esther T Stoeckli, Annick Toutain, Marie-Laure Vuillaume

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, 2022, 31 (19), pp.3325-3340. ⟨10.1093/hmg/ddac114⟩
Hum Mol Genet

Intellectual disability (ID) is a neurodevelopmental disorder frequently caused by monogenic defects. In this study, we collected 14 SEMA6B heterozygous variants in 16 unrelated patients referred for ID to different centers. Whereas, until now, SEMA6

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d974822a75fd96597543ff49dc52620f
https://hdl.handle.net/10807/232271

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Autor: Nihr BioResource, F. Lucy Raymond, Shekeeb S. Mohammad, TD Graves, Susan J. Hayflick, Bert B.A. de Vries, Katy Barwick, Conor Fearon, Dora Steel, Mark Hallett, Asif Doja, Emilie Chan Seng, Camilo Toro, Fiona Stewart, Diane Demailly, Suh Young Jeong, Claudio M. de Gusmao, Frédérique Pavillard, Nutan Sharma, Fabienne Cyprien, Juan C Pallais, Brent L. Fogel, David R. FitzPatrick, Lucia Abela, Russell C. Dale, Bettina Balint, Natalie Trump, Michel Tchan, Sony Malhotra, Swasti Pal, Maya Topf, Manju A. Kurian, Michelle Sahagian, Julia Rankin, Laila Selim, Jeff L. Waugh, Sidney Krystal, Gustavo Polo, Caleb Rogers, Michel Mondain, Kailash P. Bhatia, Ishwar C. Verma, Marisela Dy-Hollins, Kelly A. Mills, Derek Wong, Laura Cif, William A. Gahl, Meredith W Allain, Sanaz Attaripour Isfahani, Agathe Roubertie, Jenny L. Wilson, Allison Gregory, Victoria Gonzalez, Carolyn D. Applegate, Nathalie Dorison, Jennifer A. Bassetti, Catherine Blanchet, Ada Hamosh, Deciphering Developmental Disorders Study, Hane Lee, Julien Baleine, Emma L. Baple, Gaetan Lesca, Anna Znaczko, Thomas Roujeau, Mario Sa, Laurence Lion François, Neil Mahant, Diane Doummar, Sandra Jansen, Marie Hully, Christine Coubes, Eva B. Forman, Victor S.C. Fung, Gaëtan Poulen, Raghda Zaitoun, Serena Galosi, Timothy Lynch, Xavier Vasques, Elise Schaefer, Richard Selway, Adeline Ngoh, Tuula Rinne, Philippe Coubes, Elizabeth L. Fieg, Rachel Fox, Jennifer Friedman, Andrea K. Petersen, Hugo Morales-Briceño, Rebecca Signer, Luis Rohena, Sandra Chantot Bastaraud, Chloé Laurencin, Kishore R. Kumar, Julian A. Martinez-Agosto, Ellyn Farrelly, Kathleen M. Gorman, Esther Meyer, Joel B. Krier, Ariane Soldatos, Lydie Burglen, Jean-Pierre Lin, Pierre-François Perrigault, Dolly Zhen, Harutomo Hasegawa, Mary D. King, Alba Sanchis-Juan, David A. Stevenson, Gilles Cambonie, Wui K. Chong, Christophe Milési, Vincent d'Hardemare, John R. Østergaard

Publikováno v: Cif, L, Demailly, D, Lin, J P, Barwick, K E, Sa, M, Abela, L, Malhotra, S, Chong, W K, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, M W, Applegate, C D, Attaripour Isfahani, S, Baleine, J, Balint, B, Bassetti, J A, Baple, E L, Bhatia, K P, Blanchet, C, Burglen, L, Cambonie, G, Seng, E C, Bastaraud, S C, Cyprien, F, Coubes, C, d'Hardemare, V, Deciphering Developmental Disorders Study, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, M E, Farrelly, E, Fitzpatrick, D R, Fearon, C, Fieg, E L, Fogel, B L, Forman, E B, Fox, R G, Genomics England Research Consortium, Gahl, W A, Galosi, S, Gonzalez, V, Graves, T D, Gregory, A, Hallett, M, Hasegawa, H, Hayflick, S J, Hamosh, A, Hully, M, Jansen, S, Jeong, S Y, Krier, J B, Krystal, S, Kumar, K R, Laurencin, C, Lee, H, Lesca, G, François, L L, Lynch, T, Mahant, N, Martinez-Agosto, J A, Milesi, C, Mills, K A, Mondain, M, Morales-Briceno, H, NIHR BioResource, Ostergaard, J R & Undiagnosed Diseases Network 2020, ' KMT2B-related disorders : expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation ', Brain : a journal of neurology, vol. 143, no. 11, pp. 3242-3261 . https://doi.org/10.1093/brain/awaa304
Brain
Brain, 143, 3242-3261
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, ⟨10.1093/brain/awaa304⟩
Brain, 143, 11, pp. 3242-3261
Cif, L, Demailly, D, Lin, J-P, Barwick, K E, Sa, M, Abela, L, Malhotra, S, Chong, W K, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, M W, Applegate, C D, Attaripour Isfahani, S, Baleine, J, Balint, B, Bassetti, J A, Baple, E L, Bhatia, K P, Blanchet, C, Burglen, L, Cambonie, G, Seng, E C, Bastaraud, S C, Cyprien, F, Coubes, C, d'Hardemare, V, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, M E, Farrelly, E, Fitzpatrick, D R, Fearon, C, Fieg, E L, Fogel, B L, Forman, E B, Fox, R G, Gahl, W A, Galosi, S, Gonzalez, V, Graves, T D, Gregory, A, Hallett, M, Hasegawa, H & Ostergaard, J R 2020, ' KMT2B-related disorders : expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation ', Brain : a journal of neurology, vol. 143, no. 11, pp. 3242-3261 . https://doi.org/10.1093/brain/awaa304

Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::454b73289249592eb28ef6cf30506835
https://doi.org/10.1093/brain/awaa304

Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory

Autor: Patricia A. Ward, Alicia Braxton, Ignatia B. Van den Veyver, Weimin Bi, Sandra Peacock, Janice L. Smith, Sau Wai Cheung, Amy M. Breman, Andrea K. Petersen

Publikováno v: American Journal of Obstetrics and Gynecology. 217:691.e1-691.e6

Background Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3506b6de48e4be5f219979a97ad6e50b
https://doi.org/10.1016/j.ajog.2017.10.005

Abstract 3301: Uncovering novel radiation sensitivity syndromes through exome sequencing

Autor: Deborah I. Ritter, David A. Wheeler, Andrea K. Petersen, Katherine Haines, Sharon E. Plon, Ryan C. Zabriskie

Publikováno v: Cancer Research. 75:3301-3301

INTRODUCTION: The study of genetic disorders resulting in heightened sensitivity to ionizing radiation provides important molecular insights to DNA damage checkpoint and repair mechanisms. Individuals with these disorders have an increased risk of ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5f0cada9bd18c08c6a2a99cc49d0452e
https://doi.org/10.1158/1538-7445.am2015-3301