Molecular genetics

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia
Marta Futema, Vincent Plagnol, Ros A Whittall, H Andrew W Neil, Steve Eric Humphries

Journal of Medical Genetics Oct 2012, 49 (10) 644-649; DOI: 10.1136/jmedgenet-2012-101189
Clinical and genetic spectrum of Birt–Hogg–Dubé syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature
Makiko Kunogi, Masatoshi Kurihara, Takako Shigihara Ikegami, Toshiyuki Kobayashi, Noriko Shindo, Toshio Kumasaka, Yoko Gunji, Mika Kikkawa, Shin-ichiro Iwakami, Okio Hino, Kazuhisa Takahashi, Kuniaki Seyama

Journal of Medical Genetics Apr 2010, 47 (4) 281-287; DOI: 10.1136/jmg.2009.070565
Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1
U Hüffmeier, J Lascorz, T Becker, F Schürmeier-Horst, A Magener, A B Ekici, S Endele, C T Thiel, S Thoma-Uszynski, R Mössner, K Reich, W Kurrat, T F Wienker, H Traupe, A Reis

Journal of Medical Genetics Nov 2009, 46 (11) 736-744; DOI: 10.1136/jmg.2008.065029
Association of a null allele of SPRN with variant Creutzfeldt–Jakob disease
J A Beck, T A Campbell, G Adamson, M Poulter, J B Uphill, E Molou, J Collinge, S Mead

Journal of Medical Genetics Dec 2008, 45 (12) 813-817; DOI: 10.1136/jmg.2008.061804
A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensitivity in a patient with xeroderma pigmentosum
Fatemeh Abbaszadeh, Peter H Clingen, Colin F Arlett, Piers N Plowman, Emma C Bourton, Matthew Themis, Evgeny M Makarov, Robert F Newbold, Michael H L Green, Christopher N Parris

Journal of Medical Genetics Mar 2010, 47 (3) 176-181; DOI: 10.1136/jmg.2009.068866
Targeting branch sites of new exons?
Igor Vorechovsky

Journal of Medical Genetics Jul 2012, 49 (7) 480; DOI: 10.1136/jmedgenet-2012-101055
Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism
Sumedha Sudhaman, Kameshwar Prasad, Madhuri Behari, Uday B Muthane, Ramesh C Juyal, BK Thelma

Journal of Medical Genetics Jul 2016, 53 (7) 450-456; DOI: 10.1136/jmedgenet-2015-103459
Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein
Matthew F Pescosolido, Matthew Schwede, Ashley Johnson Harrison, Michael Schmidt, Ece D Gamsiz, Wendy S Chen, John P Donahue, Natasha Shur, Beth A Jerskey, Chanika Phornphutkul, Eric M Morrow

Journal of Medical Genetics Sep 2014, 51 (9) 587-589; DOI: 10.1136/jmedgenet-2014-102444
The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy
P Y W Man, C M Morris, M Zeviani, F Carrara, D M Turnbull, P F Chinnery

Journal of Medical Genetics Apr 2003, 40 (4) e41; DOI: 10.1136/jmg.40.4.e41
Identification of germline DICER1 mutations and loss of heterozygosity in familial Wilms tumour
Timothy Blake Palculict, E Cristy Ruteshouser, Yu Fan, Wenyi Wang, Louise Strong, Vicki Huff

Journal of Medical Genetics Jun 2016, 53 (6) 385-388; DOI: 10.1136/jmedgenet-2015-103311

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Molecular genetics

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