Neurosciences

Convergent lines of evidence support NOTCH4 as a schizophrenia risk gene
Yan Zhang, Shiwu Li, Xiaoyan Li, Yongfeng Yang, Wenqiang Li, Xiao Xiao, Ming Li, Luxian Lv, XiongJian Luo

Journal of Medical Genetics Oct 2021, 58 (10) 666-678; DOI: 10.1136/jmedgenet-2020-106830
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis
Emily P McCann, Lyndal Henden, Jennifer A Fifita, Katharine Y Zhang, Natalie Grima, Denis C Bauer, Sandrine Chan Moi Fat, Natalie A Twine, Roger Pamphlett, Matthew C Kiernan, Dominic B Rowe, Kelly L Williams, Ian P Blair

Journal of Medical Genetics Feb 2021, 58 (2) 87-95; DOI: 10.1136/jmedgenet-2020-106866
Defining the phenotypical spectrum associated with variants in TUBB2A
Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, Kathelijn Keymolen, Luc Régal, Romina Romaniello, Dagmar Wieczorek, Tim Matthias Storm, Karin Schaeferhoff, Ute Hehr, Alma Kuechler, Ingeborg Krägeloh-Mann, Tobias B Haack, Esmee Kasteleijn, Rachel Schot, Grazia Maria Simonetta Mancini, Richard Webster, Shekeeb Mohammad, Richard J Leventer, Ghayda Mirzaa, William B Dobyns, Nadia Bahi-Buisson, Marije Meuwissen, Anna C Jansen, Katrien Stouffs

Journal of Medical Genetics Jan 2021, 58 (1) 33-40; DOI: 10.1136/jmedgenet-2019-106740
Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank
Lucija Brcic, Jack FG Underwood, Kimberley M Kendall, Xavier Caseras, George Kirov, William Davies

Journal of Medical Genetics Oct 2020, 57 (10) 692-698; DOI: 10.1136/jmedgenet-2019-106676
Mutation of HERC2 causes developmental delay with Angelman-like features
Gaurav V Harlalka, Emma L Baple, Harold Cross, Simone Kühnle, Monica Cubillos-Rojas, Konstantin Matentzoglu, Michael A Patton, Karin Wagner, Roselyn Coblentz, Debra L Ford, Deborah J G Mackay, Barry A Chioza, Martin Scheffner, Jose Luis Rosa, Andrew H Crosby

Journal of Medical Genetics Feb 2013, 50 (2) 65-73; DOI: 10.1136/jmedgenet-2012-101367
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder
Stephen J Mosca, Lisa Marie Langevin, Deborah Dewey, A Micheil Innes, Anath C Lionel, Christian C Marshall, Stephen W Scherer, Jillian S Parboosingh, Francois P Bernier

Journal of Medical Genetics Dec 2016, 53 (12) 812-819; DOI: 10.1136/jmedgenet-2016-103818
Recent advances in the molecular genetics of epilepsy
Michael S Hildebrand, Hans-Henrik M Dahl, John Anthony Damiano, Richard J H Smith, Ingrid E Scheffer, Samuel F Berkovic

Journal of Medical Genetics May 2013, 50 (5) 271-279; DOI: 10.1136/jmedgenet-2012-101448
Evidence of mutations in RIC3 acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson's disease with non-motor phenotypes
Sumedha Sudhaman, Uday B Muthane, Madhuri Behari, Shyla T Govindappa, Ramesh C Juyal, B K Thelma

Journal of Medical Genetics Aug 2016, 53 (8) 559-566; DOI: 10.1136/jmedgenet-2015-103616
Too many numbers and complexity: time to update the classifications of neurogenetic disorders?
Jean-Michel Vallat, Cyril Goizet, Laurent Magy, Stéphane Mathis

Journal of Medical Genetics Oct 2016, 53 (10) 647-650; DOI: 10.1136/jmedgenet-2015-103477
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
Susanne Roosing, Marta Romani, Mala Isrie, Rasim Ozgur Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al-gazali, Umut Altunoglu, Eugen Boltshauser, Stefano D'Arrigo, Bart De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Puri, Hilde Van Esch, Joseph G Gleeson, Enza Maria Valente

Journal of Medical Genetics Sep 2016, 53 (9) 608-615; DOI: 10.1136/jmedgenet-2016-103832

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