CTCF deletion syndrome: clinical features and epigenetic delineationIkumi Hori, Rie Kawamura, Kazuhiko Nakabayashi, Hidetaka Watanabe, Ken Higashimoto, Junko Tomikawa, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Yoshitsugu Sugio, Keiko Wakui, Kenichiro Hata, Hidenobu Soejima, Kenji KurosawaSee the full list of authors
28 August 2017
DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessmentAmanda Ewart Toland, Paul R Andreassen
2 September 2017
Pathology update to the Manchester Scoring System based on testing in over 4000 familiesD Gareth Evans, Elaine F Harkness, Inga Plaskocinska, Andrew J Wallace, Tara Clancy, Emma R Woodward, Tony A Howell, Marc Tischkowitz, Fiona Lalloo
10 May 2017
FOXP1-related intellectual disability syndrome: a recognisable entityIlse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A Rouleau, Fadi F Hamdan, Jacques L Michaud, Jenny Morton, Jessica Radley, Nicola Ragge, Sixto García-Miñaúr, Pablo Lapunzina, Maria Palomares Bralo, Maria Ángeles MoriSee the full list of authors
22 July 2017
Genetics implicate common mechanisms in autism and schizophrenia: synaptic activity and immunityXiaoming Liu, Zhengwei Li, Conghai Fan, Dongli Zhang, Jiao Chen
17 March 2017
Genetic causes of optic nerve hypoplasiaChun-An Chen, Jiani Yin, Richard Alan Lewis, Christian P Schaaf
13 May 2017
Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genesAnge-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thevenon, Laurence Jego, Estelle Lopez, Jean-François Deleuze, Diane Doummar, Rachel H Giles, Colin A Johnson, Martijn A Huynen, Véronique Chevrier, Lydie Burglen, Manuela Morleo, Isabelle DesguerresSee the full list of authors
13 March 2017
A genome-wide interaction analysis of tricyclic/tetracyclic antidepressants and RR and QT intervals: a pharmacogenomics study from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiumRaymond Noordam, Colleen M Sitlani, Christy L Avery, James D Stewart, Stephanie M Gogarten, Kerri L Wiggins, Stella Trompet, Helen R Warren, Fangui Sun, Daniel S Evans, Xiaohui Li, Jin Li, Albert V Smith, Joshua C Bis, Jennifer A BrodySee the full list of authors
30 December 2016
Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex allelesVito Terlizzi, Giuseppe Castaldo, Donatello Salvatore, Marco Lucarelli, Valeria Raia, Adriano Angioni, Vincenzo Carnovale, Natalia Cirilli, Rosaria Casciaro, Carla Colombo, Antonella Miriam Di Lullo, Ausilia Elce, Paola Iacotucci, Marika Comegna, Manuela ScorzaSee the full list of authors
13 October 2016
Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrumAi-Ling Ji, Xia Zhang, Wei-Wei Chen, Wen-Juan Huang
13 January 2017
