Journal of Medical Genetics: 60 (8)

Ethics and policy

A model for the return and referral of all clinically significant secondary findings of genomic sequencing (22 May, 2023)
Rita Kodida, Emma Reble, Marc Clausen, Salma Shickh, Chloe Mighton, Jordan Sam, Nicole Forster, Seema Panchal, Melyssa Aronson, Kara Semotiuk, Tracy Graham, Yael Silberman, Susan Randall Armel, Jeanna M McCuaig, Iris Cohn, Chantal F Morel, Christine Elser, Andrea Eisen, June C Carroll, Emily Glogowski, Kasmintan A Schrader, Vanessa Di Gioacchino, Jordan Lerner-Ellis, Raymond H Kim, Yvonne Bombard

Cancer genetics

Original research: Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers (28 November, 2022)
D Gareth Evans, Siva Sithambaram, Elke Maria van Veen, George J Burghel, Helene Schlecht, Elaine F Harkness, Helen Byers, Jamie M Ellingford, Ashu Gandhi, Sacha J Howell, Anthony Howell, Claire Forde, Fiona Lalloo, William G Newman, Miriam Jane Smith, Emma Roisin Woodward
Original research: Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome (2 January, 2023)
Vincent Schwenk, Rafaela Magalhaes Leal Silva, Florentine Scharf, Katharina Knaust, Martin Wendlandt, Tanja Häusser, Julia M A Pickl, Verena Steinke-Lange, Andreas Laner, Monika Morak, Elke Holinski-Feder, Dieter A Wolf
Original research: Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study (10 January, 2023)
Chenghai Zhang, Dandan Zhu, Yurong Qu, Min Shi, Jingjiao Ma, Yebo Peng, Bowen Zhu, Houquan Tao, Tonghui Ma, TieYing Hou
Original research: Development of a comprehensive approach to adult hereditary cancer testing in Ontario (23 December, 2022)
Kathleen Anne Bell, Raymond Kim, Melyssa Aronson, Brittany Gillies, Arif Ali Awan, Kathy Chun, Jennifer Hart, Rachel Healey, Linda Kim, Goran Klaric, Karen Panabaker, Peter J B Sabatini, Bekim Sadikovic, Shamini Selvarajah, Amanda C Smith, Tracy L Stockley, Andrea K Vaags, Andrea Eisen, Aaron Pollett, Harriet Feilotter

Neurogenetics

Original research:
Variants in BSN gene associated with epilepsy with favourable outcome
(12 December, 2022)
Tingting Ye, Jiwei Zhang, Jie Wang, Song Lan, Tao Zeng, Huaili Wang, Xuelian He, Bing-Mei Li, Weiwen Deng, Wei-Ping Liao, Xiao-Rong Liu
Original research: Clinical and genetic features of GATOR1 complex-associated epilepsy (5 January, 2023)
Kaili Yin, Xingxing Lei, Zhaofen Yan, Yujiao Yang, Qinqin Deng, Qiang Lu, Xue Zhang, Mengyang Wang, Qing Liu
Short report:
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder
(29 December, 2022)
Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, Fatima Rahman, Maha S Zaki, Shazia Maqbool, Najwa Anwa, Victor L Ruiz-Pérez, Shira Yanovsky-Dagan, Orly Elpeleg, Sniya Sudhakar, Kshitij Mankad, Tamar Harel, Henry Houlden
Short report:
FXN gene methylation determines carrier status in Friedreich ataxia
(12 January, 2023)
Christina Lam, Kaitlyn M Gilliam, Layne N Rodden, Kimberly A Schadt, David R Lynch, Sanjay Bidichandani

Diagnostics

Original research: Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis (9 March, 2023)
Gaurav Joshi, Nancy Beryl Janet Arthur, Thenral S Geetha, Phaneendra Venkateswara Rao Datari, Kirti Modak, Debanjan Roy, Anurag Dutta Chaudhury, Prasanth Sundaraganesan, Sweety Priyanka, Fouzia NA, Vedam Ramprasad, Aby Abraham, Vivi M Srivastava, Alok Srivastava, Uday Prakash Kulkarni, Biju George, Shaji R Velayudhan
Original research: EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders (20 January, 2023)
Eva Lenassi, Ana Carvalho, Anja Thormann, Liam Abrahams, Gavin Arno, Tracy Fletcher, Claire Hardcastle, Javier Lopez, Sarah E Hunt, Patrick Short, Panagiotis I Sergouniotis, Michel Michaelides, Andrew Webster, Fiona Cunningham, Simon C Ramsden, Dalia Kasperaviciute, David R Fitzpatrick, Genomics England Research Consortium, Graeme C Black, Jamie M Ellingford

Novel disease loci

Original research:
Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes
(21 December, 2022)
Beyhan Tuysuz, Dilek Uludag Alkaya, Filiz Geyik, Merve Alaylıoğlu, Busra Kasap, Sebuh Kurugoğlu, Yunus Emre Akman, Mehmet Vural, Kaya Bilguvar

Gametes

Original research:
Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA
(2 January, 2023)
Shixiong Tian, Chaofeng Tu, Xiaojin He, Lanlan Meng, Jiaxiong Wang, Shuyan Tang, Yang Gao, Chunyu Liu, Huan Wu, Yiling Zhou, Mingrong Lv, Ge Lin, Li Jin, Yunxia Cao, Dongdong Tang, Feng Zhang, Yue-Qiu Tan

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Table of contents

August 2023 - Volume 60 - 8

Ethics and policy

Cancer genetics

Neurogenetics

Diagnostics

Novel disease loci

Gametes

Issue Information

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Table of contents

August 2023 - Volume 60 - 8

Ethics and policy

Cancer genetics

Neurogenetics

Diagnostics

Novel disease loci

Gametes

Issue Information