Molecular genetics

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
Susanna Tulli, Andrea Del Bondio, Valentina Baderna, Davide Mazza, Franca Codazzi, Tyler Mark Pierson, Alessandro Ambrosi, Dagmar Nolte, Cyril Goizet, Camilo Toro, Jonathan Baets, Tine Deconinck, Peter DeJonghe, Paola Mandich, Giorgio Casari, Francesca Maltecca

Journal of Medical Genetics Mar 2019, jmedgenet-2018-105766; DOI: 10.1136/jmedgenet-2018-105766
Promising member of the short interspersed nuclear elements (Alu elements): mechanisms and clinical applications in human cancers
Yun Jiang, Wei Zong, Shaoqing Ju, Rongrong Jing, Ming Cui

Journal of Medical Genetics Mar 2019, jmedgenet-2018-105761; DOI: 10.1136/jmedgenet-2018-105761
Integrative network and brain expression analysis reveals mechanistic modules in ataxia
Ilse Eidhof, Bart P van de Warrenburg, Annette Schenck

Journal of Medical Genetics Dec 2018, jmedgenet-2018-105703; DOI: 10.1136/jmedgenet-2018-105703
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia
Whitney L. Wooderchak-Donahue, Jamie McDonald, Andrew Farrell, Gulsen Akay, Matt Velinder, Peter Johnson, Chad VanSant-Webb, Rebecca Margraf, Eric Briggs, Kevin J Whitehead, Jennifer Thomson, Angela E Lin, Reed E Pyeritz, Gabor Marth, Pinar Bayrak-Toydemir

Journal of Medical Genetics Dec 2018, 55 (12) 824-830; DOI: 10.1136/jmedgenet-2018-105561
10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly
Danyllo Oliveira, Gabriela Ferraz Leal, Andréa L Sertié, Luiz Carlos Caires Jr, Ernesto Goulart, Camila Manso Musso, João Ricardo Mendes de Oliveira, Ana Cristina Victorino Krepischi, Angela Maria Vianna-Morgante, Mayana Zatz

Journal of Medical Genetics Oct 2018, jmedgenet-2018-105471; DOI: 10.1136/jmedgenet-2018-105471
Leveraging the power of new molecular technologies in the clinical setting requires unprecedented awareness of limitations and drawbacks: experience of one diagnostic laboratory
Landry Nfonsam, Shelley Ordorica, Mahdi Ghani, Ryan Potter, Audrey Schaffer, Hussein Daoud, Nasim Vasli, Caitlin Chisholm, Elizabeth Sinclair-Bourque, Jean McGowan-Jordan, Amanda C Smith, Olga Jarinova, Lucas Bronicki

Journal of Medical Genetics Sep 2018, jmedgenet-2018-105443; DOI: 10.1136/jmedgenet-2018-105443
Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa
Suzanne E de Bruijn, Sanne K Verbakel, Erik de Vrieze, Hannie Kremer, Frans P M Cremers, Carel B Hoyng, L Ingeborgh van den Born, Susanne Roosing

Journal of Medical Genetics Oct 2018, 55 (10) 705-712; DOI: 10.1136/jmedgenet-2018-105364
Variant in C-terminal region of intestinal alkaline phosphatase associated with benign familial hyperphosphatasaemia
Takayuki Ishige, Sakae Itoga, Emi Utsuno, Motoi Nishimura, Masaharu Yoshikawa, Naoya Kato, Kazuyuki Matsushita, Osamu Yokosuka, Fumio Nomura

Journal of Medical Genetics Oct 2018, 55 (10) 701-704; DOI: 10.1136/jmedgenet-2017-104964
Use of zebrafish models to investigate rare human disease
Kathryn Isabel Adamson, Eamonn Sheridan, Andrew James Grierson

Journal of Medical Genetics Oct 2018, 55 (10) 641-649; DOI: 10.1136/jmedgenet-2018-105358
Genetics of neuromuscular fetal akinesia in the genomics era
Sarah Jane Beecroft, Marcus Lombard, David Mowat, Catriona McLean, Anita Cairns, Mark Davis, Nigel G Laing, Gianina Ravenscroft

Journal of Medical Genetics Aug 2018, 55 (8) 505-514; DOI: 10.1136/jmedgenet-2018-105266

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