Journal of Medical Genetics: 55 (8)

Neurogenetics

Review: Genetics of neuromuscular fetal akinesia in the genomics era (29 June, 2018) Free
Sarah Jane Beecroft, Marcus Lombard, David Mowat, Catriona McLean, Anita Cairns, Mark Davis, Nigel G Laing, Gianina Ravenscroft

Original article: Retrospective natural history of thymidine kinase 2 deficiency (30 March, 2018)
Caterina Garone, Robert W Taylor, Andrés Nascimento, Joanna Poulton, Carl Fratter, Cristina Domínguez-González, Julie C Evans, Mariana Loos, Pirjo Isohanni, Anu Suomalainen, Dipak Ram, M Imelda Hughes, Robert McFarland, Emanuele Barca, Carlos Lopez Gomez, Sandeep Jayawant, Neil D Thomas, Adnan Y Manzur, Karin Kleinsteuber, Miguel A Martin, Timothy Kerr, Grainne S Gorman, Ewen W Sommerville, Patrick F Chinnery, Monika Hofer, Christoph Karch, Jeffrey Ralph, Yolanda Cámara, Marcos Madruga-Garrido, Jana Domínguez-Carral, Carlos Ortez, Sonia Emperador, Julio Montoya, Anupam Chakrapani, Joshua F Kriger, Robert Schoenaker, Bruce Levin, John L P Thompson, Yuelin Long, Shamima Rahman, Maria Alice Donati, Salvatore DiMauro, Michio Hirano

Original article:
In vivo bioassay to test the pathogenicity of missense human AIP variants
(9 April, 2018)
Elena Daniela Aflorei, Benjamin Klapholz, Chenghao Chen, Serban Radian, Anca Neluta Dragu, Nina Moderau, Chrisostomos Prodromou, Paulo S Ribeiro, Ralf Stanewsky, Márta Korbonits
Original article: New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID) (29 March, 2018)
Marielle E Van Gijn, Isabella Ceccherini, Yael Shinar, Ellen C Carbo, Mariska Slofstra, Juan I Arostegui, Guillaume Sarrabay, Dorota Rowczenio, Ebun Omoyımnı, Banu Balci-Peynircioglu, Hal M Hoffman, Florian Milhavet, Morris A Swertz, Isabelle Touitou

Original article:
Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population
(5 April, 2018)
Ranjit Manchanda, Oleg Blyuss, Faiza Gaba, Vladimir Sergeevich Gordeev, Chris Jacobs, Matthew Burnell, Carmen Gan, Rohan Taylor, Clare Turnbull, Rosa Legood, Alexey Zaikin, Antonis C Antoniou, Usha Menon, Ian Jacobs
Original article: Evaluation of polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study (5 May, 2018)
Xin Yang, Goska Leslie, Aleksandra Gentry-Maharaj, Andy Ryan, Maria Intermaggio, Andrew Lee, Jatinderpal K Kalsi, Jonathan Tyrer, Faiza Gaba, Ranjit Manchanda, Paul D P Pharoah, Simon A Gayther, Susan J Ramus, Ian Jacobs, Usha Menon, Antonis C Antoniou

Short report:
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability
(2 September, 2017)
Genay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, Leandros Boukas, Megan T Cho, Christina A Gurnett, Paul J Benke, Erin Beaver, Jennifer M Heeley, Livija Medne, Ian D Krantz, Meron Azage, Dmitriy Niyazov, Lindsay B Henderson, Ingrid M Wentzensen, Berivan Baskin, Maria J Guillen Sacoto, Gregory D Bowman, Hans T Bjornsson

Short report: A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth (17 February, 2018)
Akie Nakamura, Koji Muroya, Hiroko Ogata-Kawata, Kazuhiko Nakabayashi, Keiko Matsubara, Tsutomu Ogata, Kenji Kurosawa, Maki Fukami, Masayo Kagami