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BMJ Journals

Online First

May 20, 2022

Population genetics
Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project

Huijun Wang, Feifan Xiao, Yanyan Qian, Bingbing Wu, Xinran Dong, Yulan Lu, Guoqiang Cheng, Laishuan Wang, Kai Yan, Lin Yang, Liping Chen, Wenqing Kang, Long Li, Xinnian Pan, Qiufen Wei, Deyi Zhuang, Dongmei Chen, Zhaoqing Yin, Ling Yang, Qi Ni, Renchao Liu, Gang Li, Ping Zhang, Xu Li, Xiaomin Peng, Yao Wang, Huiyao Chen, Xiaojing Ma, Fang Liu, Yun Cao, Guoying Huang, Wenhao Zhou

doi: 10.1136/jmedgenet-2021-108354

May 16, 2022

Phenotypes
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India

Kruti Varshney, Sanjeeva Ghanti Narayanachar, Katta M Girisha, Gandham SriLakshmi Bhavani, Dhanyalakshmi Narayanan, Shubha Phadke, Sheela Nampoothiri, Gautham Arunachal Udupi, Palany Raghupathy, Mohandas Nair, Thenral S Geetha, Meenakshi Bhat

doi: 10.1136/jmedgenet-2021-108098

May 09, 2022

Diagnostics
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases

Danny E. Miller, Lin Lee, Miranda Galey, Renuka Kandhaya-Pillai, Marc Tischkowitz, Deepak Amalnath, Avadh Vithlani, Koutaro Yokote, Hisaya Kato, Yoshiro Maezawa, Aki Takada-Watanabe, Minoru Takemoto, George M. Martin, Evan E. Eichler, Fuki M. Hisama, Junko Oshima

doi: 10.1136/jmedgenet-2022-108485
Cancer genetics
Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study

Mollie E Barnard, Huong Meeks, Elke A Jarboe, James Albro, Nicola J Camp, Jennifer A Doherty

doi: 10.1136/jmedgenet-2021-108402
Immunogenetics
Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus

Tomohiro Nakano, Yoji Sasahara, Atsuo Kikuchi, Kunihiko Moriya, Hidetaka Niizuma, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Shigeo Kure

doi: 10.1136/jmedgenet-2021-108300
Gametes
Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice

Wensheng Liu, Xiaoli Wei, Xiaoyan Liu, Gaowen Chen, Xiaoya Zhang, Xiaomei Liang, Vladimir Isachenko, Yanwei Sha, Yifeng Wang

doi: 10.1136/jmedgenet-2021-108137

April 21, 2022

Gametes
Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia

Tongyao Hu, Lanlan Meng, Chen Tan, Chen Luo, Wen-Bin He, Chaofeng Tu, Huan Zhang, Juan Du, Hongchuan Nie, Guang-Xiu Lu, Ge Lin, Yue-Qiu Tan

doi: 10.1136/jmedgenet-2021-108249

April 12, 2022

Diagnostics
Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant

Christopher Mark Watson, Lucy Jackson, Laura A Crinnion, David T Bonthron, Eamonn Sheridan

doi: 10.1136/jmedgenet-2021-108314

April 08, 2022

Novel disease loci
GLRA2 gene mutations cause high myopia in humans and mice

Qi Tian, Ping Tong, Gong Chen, Meichun Deng, Tian'e Cai, Runyi Tian, Zimin Zhang, Kun Xia, Zhengmao Hu

doi: 10.1136/jmedgenet-2022-108425

April 07, 2022

Neurogenetics
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum

Magdalena Mroczek, Cheryl Longman, Maria Elena Farrugia, Solange Kapetanovic Garcia, Didem Ardicli, Haluk Topaloglu, Aurelio Hernández-Laín, Diclehan Orhan, Mehmet Alikasifoglu, Jennifer Duff, Sabine Specht, Kristen Nowak, Gianina Ravenscroft, Katherine Chao, Zaheer Valivullah, Sandra Donkervoort, Dimah Saade, Carsten Bönnemann, Volker Straub, Grace Yoon

doi: 10.1136/jmedgenet-2021-108341
Genotype-phenotype correlations
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Diana Baralle, Tim Vanderhasselt, Katrien Stouffs, Kathelijn Keymolen, Sukhan Kim, James Allen, Gil Shaulsky, Jamel Chelly, Pascale Marcorelle, Jacqueline Aziza, Laurent Villard, Elise Sacaze, Marie C Y de Wit, Martina Wilke, Grazia Maria Simonetta Mancini, Ute Hehr, Derek Lim, Sahar Mansour, Stephen F Traynelis, Claire Beneteau, Marie Denis-Musquer, Anna C Jansen, Andrew E Fry, Nadia Bahi-Buisson

doi: 10.1136/jmedgenet-2021-107971
Cognitive and behavioural genetics
Identifying the psychosocial predictors of ultraviolet exposure to the face in patients with xeroderma pigmentosum: a study of the behavioural factors affecting clinical outcomes in this genetic disease

Robert Sarkany, Sam Norton, Martha Canfield, Myfanwy Morgan, Lesley Foster, Kirby Sainsbury, Vera Araujo-Soares, Hans Christian Wulf, John Weinman, Jessica Walburn

doi: 10.1136/jmedgenet-2021-108323

April 06, 2022

Diagnostics
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases

Sung Eun Hong, Jana Kneissl, Anna Cho, Man Jin Kim, Soojin Park, Jeongeun Lee, Sijae Woo, Sora Kim, Jun-Soon Kim, Soo Yeon Kim, Sungwon Jung, Jinkuk Kim, Je-Young Shin, Jong-Hee Chae, Murim Choi

doi: 10.1136/jmedgenet-2021-108307

March 31, 2022

Genotype-phenotype correlations
Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy

Yunqi He, Mu Yang, Rulian Zhao, Li Peng, Erkuan Dai, Lulin Huang, Peiquan Zhao, Shujin Li, Zhenglin Yang

doi: 10.1136/jmedgenet-2021-108259

March 09, 2022

Copy-number variation
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome

Hagit Daum, Reeval Segel, Vardiella Meiner, Yael Goldberg, Sharon Zeligson, Omri Weiss, Shira Stern, Ayala Frumkin, Shamir Zenvirt, Gael Ganz, Shiri Shkedi-Rafid

doi: 10.1136/jmedgenet-2021-107890

March 08, 2022

Position statement
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice

Helen Hanson, Miranda Durkie, Fiona Lalloo, Louise Izatt, Terri P McVeigh, Jackie A Cook, Carole Brewer, James Drummond, Samantha Butler, Treena Cranston, Ruth Casey, Tricia Tan, Daniel Morganstein, Diana M Eccles, Marc Tischkowitz, Clare Turnbull, Emma Roisin Woodward, Eamonn R Maher on behalf of UK Cancer Genetics Centres

doi: 10.1136/jmedgenet-2021-108355

March 07, 2022

Genotype-phenotype correlations
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, Diana Carli, Carlotta Ranieri, Antonino Pantaleo, Paola Sabrina Buonuomo, Rosanna Bagnulo, Giovanni Battista Ferrero, Andrea Bartuli, Daniela Melis, Silvia Maitz, Daria Carmela Loconte, Antonella Turchiano, Marilidia Piglionica, Annunziata De Luisi, Francesco Claudio Susca, Nenad Bukvic, Cinzia Forleo, Angelo Selicorni, Giuseppe Zampino, Roberta Onesimo, Gerarda Cappuccio, Livia Garavelli, Chiara Novelli, Luigi Memo, Carla Morando, Matteo Della Monica, Maria Accadia, Martina Capurso, Carmelo Piscopo, Anna Cereda, Marilena Carmela Di Giacomo, Veronica Saletti, Alessandro Mauro Spinelli, Patrizia Lastella, Romano Tenconi, Veronika Dvorakova, Alan D Irvine, Nicoletta Resta

doi: 10.1136/jmedgenet-2021-108093

March 01, 2022

Neurogenetics
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome

Marco Angelozzi, Anirudha Karvande, Arnaud N Molin, Alyssa L Ritter, Jacqueline M M Leonard, Juliann M Savatt, Kristen Douglass, Scott M Myers, Mina Grippa, Dara Tolchin, Elaine Zackai, Sarah Donoghue, Anna C E Hurst, Maria Descartes, Kirstin Smith, Danita Velasco, Andrew Schmanski, Amy Crunk, Mari J Tokita, Iris M de Lange, Koen van Gassen, Hannah Robinson, Katie Guegan, Mohnish Suri, Chirag Patel, Marie Bournez, Laurence Faivre, Frédéric Tran-Mau-Them, Janice Baker, Noelle Fabie, K Weaver, Amelle Shillington, Robert J Hopkin, Daniela Q C.M Barge-Schaapveld, Claudia AL Ruivenkamp, Regina Bökenkamp, Samantha Vergano, Maria Noelia Seco Moro, Aranzazu Díaz de Bustamante, Vinod K Misra, Kelly Kennelly, Caleb Rogers, Jennifer Friedman, Kristen M Wigby, Jerica Lenberg, Claudio Graziano, Rebecca C Ahrens-Nicklas, Veronique Lefebvre

doi: 10.1136/jmedgenet-2021-108375

February 28, 2022

Gametes
Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility

Chunyu Liu, Ying Shen, Shuyan Tang, Jiaxiong Wang, Yiling Zhou, Shixiong Tian, Huan Wu, Jiangshan Cong, Xiaojin He, Li Jin, Yunxia Cao, Yihong Yang, Feng Zhang

doi: 10.1136/jmedgenet-2021-108271

February 11, 2022

Neurogenetics
Complete loss of the X-linked gene CASK causes severe cerebellar degeneration

Paras A Patel, Julia V Hegert, Ingrid Cristian, Alicia Kerr, Leslie E W LaConte, Michael A Fox, Sarika Srivastava, Konark Mukherjee

doi: 10.1136/jmedgenet-2021-108115

February 04, 2022

Cancer genetics
Cost-effectiveness model of renal cell carcinoma (RCC) surveillance in hereditary leiomyomatosis and renal cell carcinoma (HLRCC)

Alexander J Thompson, Yousef M Alwan, Vijay A C Ramani, D Gareth Evans, Eamonn R Maher, Emma R Woodward

doi: 10.1136/jmedgenet-2021-108215

February 03, 2022

Novel disease loci
Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis

Nicolas Cornière, R Brent Thomson, Stéphanie Thauvin, Bruno O Villoutreix, Sophie Karp, Diane W Dynia, Sarah Burlein, Lennart Brinkmann, Alaa Badreddine, Aurélie Dechaume, Mehdi Derhourhi, Emmanuelle Durand, Emmanuel Vaillant, Philippe Froguel, Régine Chambrey, Peter S Aronson, Amélie Bonnefond, Dominique Eladari

doi: 10.1136/jmedgenet-2021-108256

January 25, 2022

Cancer genetics
Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants

Benjamin A Lerner, Rosa M Xicola, Nicolette J Rodriguez, Rachid Karam, Xavier Llor

doi: 10.1136/jmedgenet-2021-108169

January 17, 2022

Cancer genetics
Long-term tumour dormancy in a BRCA1 heterozygote

Setor Amuzu, Lili Fu, Nadine Demko, Barbara Rivera, Celine Domecq, Leanne de Kock, Nancy Hamel, Lucy Gilbert, Paz Polak, Jiannis Ragoussis, William D Foulkes

doi: 10.1136/jmedgenet-2021-108269

December 22, 2021

Cognitive and behavioural genetics
Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants

Clément Desjardins, Frédéric Caux, Bertrand Degos, Djallel Benzohra, Astrid De Liège, Gérôme Bohelay, Michel Longy, Chloé Béreaux, Béatrice Garcin

doi: 10.1136/jmedgenet-2021-107954

December 16, 2021

Genotype-phenotype correlations
Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome

Yuki Taniguchi, Norifumi Takeda, Ryo Inuzuka, Yoshitaka Matsubayashi, So Kato, Toru Doi, Hiroki Yagi, Haruo Yamauchi, Masahiko Ando, Yasushi Oshima, Sakae Tanaka

doi: 10.1136/jmedgenet-2021-108186
Phenotypes
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts

Sahar Mansour, Katherine S Josephs, Pia Ostergaard, Kristiana Gordon, Malou Van Zanten, Julian Pearce, Steve Jeffery, Vaughan Keeley, Katie Riches, Alexander Kreuter, Ulrike Wieland, René Hägerling, Lakshmi Ratnam, Ege Sackey, Dionysios Grigoriadis, Bernard Ho, Frances Smith, Elisabeth Rauter, Peter Mortimer, Derek Macallan

doi: 10.1136/jmedgenet-2021-107820

December 07, 2021

Developmental defects
Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis

Marie F. Smeland, Pascal Brouillard, Trine Prescott, Laurence M Boon, Bodil Hvingel, Cecilie V Nordbakken, Mona Nystad, Øystein L. Holla, Miikka Vikkula

doi: 10.1136/jmedgenet-2021-108179
Clinical guidelines
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations

Pauline Le Tanno, Xenia Latypova, John Rendu, Julien Fauré, Véronique Bourg, Marjolaine Gauthier, Gipsy Billy-Lopez, Pierre-Simon Jouk, Klaus Dieterich

doi: 10.1136/jmedgenet-2021-107823

December 06, 2021

Genotype-phenotype correlations
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

Kristoffer Björkman, John Vissing, Elsebet Østergaard, Laurence A Bindoff, Irenaeus F M de Coo, Martin Engvall, Omar Hikmat, Pirjo Isohanni, Gittan Kollberg, Christopher Lindberg, Kari Majamaa, Karin Naess, Johanna Uusimaa, Mar Tulinius, Niklas Darin

doi: 10.1136/jmedgenet-2021-108006
Therapeutics
Pharmacogenomic testing and prescribing patterns for patients with cancer in a large national precision medicine cohort

Jay G Ronquillo, William T Lester

doi: 10.1136/jmedgenet-2021-108112

November 08, 2021

Cancer genetics
SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma

Jean Pierre Bayley, Birke Bausch, Jeroen C Jansen, Erik F Hensen, Karin van der Tuin, Eleonora PM Corssmit, Peter Devilee, Hartmut PH Neumann

doi: 10.1136/jmedgenet-2020-107656

January 04, 2021

Miscellaneous
Correction: Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

doi: 10.1136/jmedgenet-2013-013466corr1

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