Special collections

Special collections

Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end
Vittoria Disciglio, Candida Fasano, Filomena Cariola, Giovanna Forte, Valentina Grossi, Paola Sanese, Martina Lepore Signorile, Nicoletta Resta, Claudio Lotesoriere, Alessandro Stella, Ivan Lolli, Cristiano Simone

Journal of Medical Genetics Oct 2019, jmedgenet-2019-106299; DOI: 10.1136/jmedgenet-2019-106299
Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status
George J Burghel, Unzela Khan, Wei-Yu Lin, William Whittaker, Siddharth Banka

Journal of Medical Genetics Aug 2019, jmedgenet-2019-106292; DOI: 10.1136/jmedgenet-2019-106292
Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA
Muyun Peng, Yuancai Xie, Xiaohua Li, Youhui Qian, Xiaonian Tu, Xumei Yao, Fangsheng Cheng, Feiyue Xu, Deju Kong, Bing He, Chaoyu Liu, Fengjun Cao, Haoxian Yang, Fenglei Yu, Chuanbo Xu, Geng Tian

Journal of Medical Genetics Oct 2019, 56 (10) 647-653; DOI: 10.1136/jmedgenet-2018-105825
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era
Kyra E Stuurman, Marieke Joosten, Ineke van der Burgt, Mariet Elting, Helger G Yntema, Hanne Meijers-Heijboer, Tuula Rinne

Journal of Medical Genetics Oct 2019, 56 (10) 654-661; DOI: 10.1136/jmedgenet-2018-105746
Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
Aia Elise Jønch, Elise Douard, Clara Moreau, Anke Van Dijck, Marzia Passeggeri, Frank Kooy, Jacques Puechberty, Carolyn Campbell, Damien Sanlaville, Henrietta Lefroy, Sonia Richetin, Aurelie Pain, David Geneviève, Usha Kini, Cédric Le Caignec, James Lespinasse, Anne-Bine Skytte, Bertrand Isidor, Christiane Zweier, Jean-Hubert Caberg, Marie-Ange Delrue, Rikke Steensbjerre Møller, Anders Bojesen, Helle Hjalgrim, Charlotte Brasch-Andersen, Emmanuelle Lemyre, Lilian Bomme Ousager, Sébastien Jacquemont

Journal of Medical Genetics Oct 2019, 56 (10) 701-710; DOI: 10.1136/jmedgenet-2018-105879
Impact of DNA source on genetic variant detection from human whole-genome sequencing data
Brett Trost, Susan Walker, Syed A Haider, Wilson W L Sung, Sergio Pereira, Charly L Phillips, Edward J Higginbotham, Lisa J Strug, Charlotte Nguyen, Akshaya Raajkumar, Michael J Szego, Christian R Marshall, Stephen W Scherer

Journal of Medical Genetics Sep 2019, jmedgenet-2019-106281; DOI: 10.1136/jmedgenet-2019-106281
Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation
Antonis Ververis, Rana Dajani, Pantelitsa Koutsou, Ahmad Aloqaily, Carol Nelson-Williams, Erin Loring, Ala Arafat, Ammar Fayez Mubaidin, Khalid Horany, Mai B Bader, Yaqoub Al-Baho, Bushra Ali, Abdurrahman Muhtaseb, Tyrone DeSpenza Jr, Abdelkarim A Al-Qudah, Lefkos T Middleton, Eleni Zamba-Papanicolaou, Richard Lifton, Kyproula Christodoulou

Journal of Medical Genetics Sep 2019, jmedgenet-2019-106108; DOI: 10.1136/jmedgenet-2019-106108
Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)
Yi Dai, Pidong Li, Zhiqiang Wang, Fan Liang, Fan Yang, Li Fang, Yu Huang, Shangzhi Huang, Jiapeng Zhou, Depeng Wang, Liying Cui, Kai Wang

Journal of Medical Genetics Sep 2019, jmedgenet-2019-106078; DOI: 10.1136/jmedgenet-2019-106078
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers
Maribel González-Acosta, Fátima Marín, Benjamin Puliafito, Nuria Bonifaci, Anna Fernández, Matilde Navarro, Hector Salvador, Francesc Balaguer, Silvia Iglesias, Angela Velasco, Elia Grau Garces, Victor Moreno, Luis Ignacio Gonzalez-Granado, Pilar Guerra-García, Rosa Ayala, Benoît Florkin, Christian Kratz, Tim Ripperger, Thorsten Rosenbaum, Danuta Januszkiewicz-Lewandowska, Amedeo A Azizi, Iman Ragab, Michaela Nathrath, Hans-Jürgen Pander, Stephan Lobitz, Manon Suerink, Karin Dahan, Thomas Imschweiler, Ugur Demirsoy, Joan Brunet, Conxi Lázaro, Daniel Rueda, Katharina Wimmer, Gabriel Capellá, Marta Pineda

Journal of Medical Genetics Sep 2019, jmedgenet-2019-106272; DOI: 10.1136/jmedgenet-2019-106272
Postzygotic mosaicism in cerebral cavernous malformation
Matthias Rath, Axel Pagenstecher, Alexander Hoischen, Ute Felbor

Journal of Medical Genetics Aug 2019, jmedgenet-2019-106182; DOI: 10.1136/jmedgenet-2019-106182

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