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BMJ Journals

Table of contents

January 2016 - Volume 53 - 1

Journal of Medical Genetics: 53 (1)

Cancer genetics

Melanoma genetics (3 September, 2015) Free
Jazlyn Read, Karin A W Wadt, Nicholas K Hayward
Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries
(17 July, 2015) Free
Ava Kwong, Vivian Y Shin, John C W Ho, Eunyoung Kang, Seigo Nakamura, Soo-Hwang Teo, Ann S G Lee, Jen-Hwei Sng, Ophira M Ginsburg, Allison W Kurian, Jeffrey N Weitzel, Man-Ting Siu, Fian B F Law, Tsun-Leung Chan, Steven A Narod, James M Ford, Edmond S K Ma, Sung-Won Kim
Original article: MicroRNA-129-1 acts as tumour suppressor and induces cell cycle arrest of GBM cancer cells through targeting IGF2BP3 and MAPK1 (28 October, 2015) Free
Fatemeh Kouhkan, Naser Mobarra, Mina Soufi-Zomorrod, Farid Keramati, Seyed Mohammad Ali Hosseini Rad, Mehrnoosh Fathi-Roudsari, Rezvan Tavakoli, Athena Hajarizadeh, Said Ziaei, Reyhaneh Lahmi, Hamed Hanif, Masoud Soleimani
Original article: Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families (3 November, 2015) Free
Jun Li, Huong Meeks, Bing-Jian Feng, Sue Healey, Heather Thorne, Igor Makunin, Jonathan Ellis, kConFab Investigators,, Ian Campbell, Melissa Southey, Gillian Mitchell, David Clouston, Judy Kirk, David Goldgar, Georgia Chenevix-Trench

Somatic mosaicism

Original article: High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome (16 October, 2015) Free
Leanne de Kock, Yu Chang Wang, Timothée Revil, Dunarel Badescu, Barbara Rivera, Nelly Sabbaghian, Mona Wu, Evan Weber, Claudio Sandoval, Saskia M J Hopman, Johannes H M Merks, Johanna M van Hagen, Antonia H M Bouts, David A Plager, Aparna Ramasubramanian, Linus Forsmark, Kristine L Doyle, Tonja Toler, Janine Callahan, Charlotte Engelenberg, Dorothée Bouron-Dal Soglio, John R Priest, Jiannis Ragoussis, William D Foulkes
Original article: Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome (6 November, 2015) Free
Jennifer M Kalish, Kara E Boodhansingh, Tricia R Bhatti, Arupa Ganguly, Laura K Conlin, Susan A Becker, Stephanie Givler, Lindsey Mighion, Andrew A Palladino, N Scott Adzick, Diva D De León, Charles A Stanley, Matthew A Deardorff

Genotype-phenotype correlations

Original article: MKS1 regulates ciliary INPP5E levels in Joubert syndrome (21 October, 2015) Free
Gisela G Slaats, Christine R Isabella, Hester Y Kroes, Jennifer C Dempsey, Hendrik Gremmels, Glen R Monroe, Ian G Phelps, Karen J Duran, Jonathan Adkins, Sairam A Kumar, Dana M Knutzen, Nine V Knoers, Nancy J Mendelsohn, David Neubauer, Sotiria D Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian A Glass, Melissa A Parisi, Edgar A Otto, Colin A Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H Giles, Dan Doherty

Issue Information