Journal of Medical Genetics: 55 (12)

Cancer genetics

Review: Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature (4 October, 2018)
Dianne E Sylvester, Yuyan Chen, Robyn V Jamieson, Luciano Dalla-Pozza, Jennifer A Byrne
Original article:
Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort
(10 November, 2018)
Jee-Soo Lee, Sohee Oh, Sue Kyung Park, Min-Hyuk Lee, Jong Won Lee, Sung-Won Kim, Byung Ho Son, Dong-Young Noh, Jeong Eon Lee, Hai-Lin Park, Man Jin Kim, Sung Im Cho, Young Kyung Lee, Sung Sup Park, Moon-Woo Seong

Original article: PEHO syndrome: the endpoint of different genetic epilepsies (4 October, 2018) Free
Manali Chitre, Michael S Nahorski, Kaitlin Stouffer, Bryony Dunning-Davies, Hamish Houston, Emma L Wakeling, Angela F Brady, Sameer M Zuberi, Mohnish Suri, Alasdair P J Parker, C Geoffrey Woods
Original article:
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations
(10 November, 2018)
Vincenzo Lupo, Marina Frasquet, Ana Sánchez-Monteagudo, Ana Lara Pelayo-Negro, Tania García-Sobrino, María José Sedano, Julio Pardo, Mercedes Misiego, Jorge García-García, María Jesús Sobrido, María Dolores Martínez-Rubio, María José Chumillas, Juan Jesús Vílchez, Juan Francisco Vázquez-Costa, Carmen Espinós, Teresa Sevilla

Original article:
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia
(22 September, 2018)
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

Original article: Common variants at 5q33.1 predispose to migraine in African-American children (28 September, 2018)
Xiao Chang, Renata Pellegrino, James Garifallou, Michael March, James Snyder, Frank Mentch, Jin Li, Cuiping Hou, Yichuan Liu, Patrick M A Sleiman, Hakon Hakonarson

Original article:
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome
(15 October, 2018)
Stefano Paolacci, Yun Li, Emanuele Agolini, Emanuele Bellacchio, Carlos E Arboleda-Bustos, Dido Carrero, Debora Bertola, Lihadh Al-Gazali, Mariel Alders, Janine Altmüller, Gonzalo Arboleda, Filippo Beleggia, Alessandro Bruselles, Andrea Ciolfi, Gabriele Gillessen-Kaesbach, Thomas Krieg, Shehla Mohammed, Christian Müller, Antonio Novelli, Jenny Ortega, Adrian Sandoval, Gloria Velasco, Gökhan Yigit, Humberto Arboleda, Carlos Lopez-Otin, Bernd Wollnik, Marco Tartaglia, Raoul C Hennekam

Short report: Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay (14 July, 2018)
Kit San Yeung, Matthew Sai Pong Ho, So Lun Lee, Anita Sik Yau Kan, Kelvin Yuen Kwong Chan, Mary Hoi Yin Tang, Christopher Chun Yu Mak, Gordon Ka Chun Leung, Po Lam So, Rolph Pfundt, Christian R Marshall, Stephen W Scherer, Sanaa Choufani, Rosanna Weksberg, Brian Hon-Yin Chung