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 Aug 2019, 56 (8) 499-511; DOI: 10.1136/jmedgenet-2018-105766
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 Aug 2019, 56 (8) 543-547; DOI: 10.1136/jmedgenet-2018-105471
CCMG practice guideline: laboratory guidelines for next-generation sequencing
Stacey Hume, Tanya N Nelson, Marsha Speevak, Elizabeth McCready, Ron Agatep, Harriet Feilotter, Jillian Parboosingh, Dimitri J Stavropoulos, Sherryl Taylor, Tracy L Stockley

Journal of Medical Genetics Jul 2019, jmedgenet-2019-106152; DOI: 10.1136/jmedgenet-2019-106152
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 Jun 2019, 56 (6) 408-412; DOI: 10.1136/jmedgenet-2018-105443
Integrative network and brain expression analysis reveals mechanistic modules in ataxia
Ilse Eidhof, Bart P van de Warrenburg, Annette Schenck

Journal of Medical Genetics May 2019, 56 (5) 283-292; DOI: 10.1136/jmedgenet-2018-105703
Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs)
Sabrina Talukdar, Lara Hawkes, Helen Hanson, Anjana Kulkarni, Angela F Brady, Dominic J McMullan, Joo Wook Ahn, Emma Woodward, Clare Turnbull

Journal of Medical Genetics Apr 2019, jmedgenet-2018-105820; DOI: 10.1136/jmedgenet-2018-105820
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
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
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

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