Journal of Medical Genetics: 56 (2)

Cancer genetics

Review: Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy (10 November, 2018)
Manon Suerink, Tim Ripperger, Ludwine Messiaen, Fred H Menko, Franck Bourdeaut, Chrystelle Colas, Marjolijn Jongmans, Yael Goldberg, Maartje Nielsen, Martine Muleris, Mariëtte van Kouwen, Irene Slavc, Christian Kratz, Hans F Vasen, Laurence Brugiѐres, Eric Legius, Katharina Wimmer
Original article:
Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer
(24 November, 2018)
Gemma Montalban, Sandra Bonache, Alejandro Moles-Fernández, Alexandra Gisbert-Beamud, Anna Tenés, Vanessa Bach, Estela Carrasco, Adrià López-Fernández, Neda Stjepanovic, Judith Balmaña, Orland Diez, Sara Gutiérrez-Enríquez

Original article:
Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing
(27 October, 2018)
Iris M de Lange, Marco J Koudijs, Ruben van ‘t Slot, Anja C M Sonsma, Flip Mulder, Ellen C Carbo, Marjan J A van Kempen, Isaac J Nijman, Robert F Ernst, Sanne M C Savelberg, Nine V A M Knoers, Eva H Brilstra, Bobby P C Koeleman

Original article:
Mosaicism and incomplete penetrance of PCDH19 mutations
(4 October, 2018)
Aijie Liu, Xiaoxu Yang, Xiaoling Yang, Qixi Wu, Jing Zhang, Dan Sun, Zhixian Yang, Yuwu Jiang, Xiru Wu, Liping Wei, Yuehua Zhang

Original article: Kabuki syndrome: international consensus diagnostic criteria (4 December, 2018)
Margaret P Adam, Siddharth Banka, Hans T Bjornsson, Olaf Bodamer, Albert E Chudley, Jaqueline Harris, Hiroshi Kawame, Brendan C Lanpher, Andrew W Lindsley, Giuseppe Merla, Noriko Miyake, Nobuhiko Okamoto, Constanze T Stumpel, Norio Niikawa

Original article:
Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella
(10 November, 2018)
Xiaojin He, Weiyu Li, Huan Wu, Mingrong Lv, Wangjie Liu, Chunyu Liu, Fuxi Zhu, Caihua Li, Youyan Fang, Chenyu Yang, Huiru Cheng, Junqiang Zhang, Jing Tan, Tingting Chen, Dongdong Tang, Bing Song, Xue Wang, Xiaomin Zha, Hongyan Wang, Zhaolian Wei, Shenmin Yang, Hexige Saiyin, Ping Zhou, Li Jin, Jian Wang, Zhiguo Zhang, Feng Zhang, Yunxia Cao

Original article:
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders
(23 October, 2018) Free
Victor Murcia Pienkowski, Marzena Kucharczyk, Marlena Młynek, Krzysztof Szczałuba, Małgorzata Rydzanicz, Barbara Poszewiecka, Agata Skórka, Maciej Sykulski, Anna Biernacka, Agnieszka Anna Koppolu, Renata Posmyk, Anna Walczak, Joanna Kosińska, Paweł Krajewski, Jennifer Castaneda, Ewa Obersztyn, Elżbieta Jurkiewicz, Robert Śmigiel, Anna Gambin, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Rafał Płoski

Original article: De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy (15 October, 2018)
Annalisa G Sega, Emily K Mis, Kristin Lindstrom, Saadet Mercimek-Andrews, Weizhen Ji, Megan T Cho, Jane Juusola, Monica Konstantino, Lauren Jeffries, Mustafa K Khokha, Saquib Ali Lakhani