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BMJ Journals

Online First

September 23, 2022

Chromosomal rearrangements
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

Weimin Bi, Bo Yuan, Pengfei Liu, Jaclyn B Murry, Xiang Qin, Fan Xia, Thao Quach, Lance M Cooper, Joanna Wiszniewska, Patricia Hixson, Sandra Peacock, Vijay S Tonk, Robert W Huff, Veronica Ortega, James R Lupski, Steven E Scherer, Rebecca Okashah Littlejohn, Gopalrao V N Velagaleti, Elizabeth R Roeder, Sau Wai Cheung

doi: 10.1136/jmg-2022-108586

September 22, 2022

Clinical guidelines
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme

Chia-Feng Yang, Ting-Wei Ernie Liao, Yen-Ling Chu, Li-Zhen Chen, Ling-Yi Huang, Tsui-Feng Yang, Hui-Chen Ho, Shu-Min Kao, Dau-Ming Niu

doi: 10.1136/jmg-2022-108675

September 19, 2022

Chromosomal rearrangements
Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis

Jakob A Meinel, Verónica Yumiceba, Axel Künstner, Kristin Schultz, Nathalie Kruse, Frank J Kaiser, Paul-Martin Holterhus, Alexander Claviez, Olaf Hiort, Hauke Busch, Malte Spielmann, Ralf Werner

doi: 10.1136/jmg-2022-108635

September 16, 2022

Phenotypes
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J.Cullen, Shinji Saitoh, Kohji Kato

doi: 10.1136/jmg-2022-108602
Cancer genetics
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations

Laëtitia Meulemans, Stéphanie Baert Desurmont, Marie-Christine Waill, Gaia Castelain, Audrey Killian, Julie Hauchard, Thierry Frebourg, Florence Coulet, Alexandra Martins, Martine Muleris, Pascaline Gaildrat

doi: 10.1136/jmg-2022-108576

September 15, 2022

Copy-number variation
Recurrent 17q12 microduplications contribute to renal disease but not diabetes

Stuart Cannon, Rhian Clissold, Kittiya Sukcharoen, Marcus Tuke, Gareth Hawkes, Robin N Beaumont, Andrew R Wood, Mark Gilchrist, Andrew T Hattersley, Richard A Oram, Kashyap Patel, Caroline Wright, Michael N Weedon

doi: 10.1136/jmg-2022-108615

September 07, 2022

Functional genomics
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

Laura Castilla-Vallmanya, Mónica Centeno-Pla, Mercedes Serrano, Héctor Franco-Valls, Raúl Martínez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A G Ranea, Pedro Seoane, Clara Oliva, Abraham J Paredes-Fuentes, Gemma Marfany, Rafael Artuch, Daniel Grinberg, Raquel Rabionet, Susanna Balcells, Roser Urreizti

doi: 10.1136/jmg-2022-108690
Genotype-phenotype correlations
Genotype–phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions

Kenan Zhang, Wuping Yang, Kaifang Ma, Jianhui Qiu, Lei Li, Yawei Xu, Zedan Zhang, Chaojian Yu, Jingcheng Zhou, Yanqing Gong, Lin Cai, Kan Gong

doi: 10.1136/jmg-2022-108633

August 29, 2022

Phenotypes
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study

Anne Marie Jelsig, Anette Kjeldsen, Lise Lotte Christensen, Birgitte Bertelsen, John Gásdal Karstensen, Klaus Brusgaard, Pernille M Torring

doi: 10.1136/jmg-2022-108766
Population genetics
A founder UMOD variant is a common cause of hereditary nephropathy in the British population

Manoj K Valluru, Noelle KX Chung, Mark Gilchrist, Laura Butland, Jackie Cook, Anna Takou, Abhijit Dixit, Michael N Weedon, Albert C M Ong The Genomics England Research Consortium

doi: 10.1136/jmg-2022-108704

August 24, 2022

Neurogenetics
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity

Anum Shafique, Beenish Arif, Mary Lynn Chu, Ellen Moran, Tooba Hussain, Francisca Millan Zamora, Elizabeth Wohler, Nara Sobreira, Christine Klein, Katja Lohmann, Sadaf Naz

doi: 10.1136/jmg-2022-108521

August 17, 2022

Population genetics
Prevalence of Fabry disease-causing variants in the UK Biobank

Mark Gilchrist, Francesco Casanova, Jess S Tyrrell, Stuart Cannon, Andrew R Wood, Nicole Fife, Katherine Young, Richard A Oram, Michael N Weedon

doi: 10.1136/jmg-2022-108523
Miscellaneous
Correction: SETD1B-associated neurodevelopmental disorder

doi: 10.1136/jmedgenet-2019-106756corr1

August 16, 2022

Genotype-phenotype correlations
Sequencing of the ZMYND15 gene in a cohort of infertile Chinese men reveals novel mutations in patients with teratozoospermia

Yuting Wen, Xiang Wang, Rui Zheng, Siyu Dai, Jinhui Li, Yihong Yang, Ying Shen

doi: 10.1136/jmg-2022-108727

August 04, 2022

Diagnostics
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals

Marion Aubert-Mucca, Céline Huber, Genevieve Baujat, Caroline Michot, Mohammed Zarhrate, Marc Bras, Lucile Boutaud, Valérie Malan, Tania Attie-Bitach, Clinical Contributors, Valerie Cormier-Daire

doi: 10.1136/jmg-2022-108435

July 26, 2022

Genotype-phenotype correlations
Axenfeld-Rieger syndrome: more than meets the eye

Linda M. Reis, Mohit Maheshwari, Jenina Capasso, Huban Atilla, Lubica Dudakova, Samuel Thompson, Lia Zitano, Guillermo Lay-Son, R. Brian Lowry, Jennifer Black, Joseph Lee, Ann Shue, Radka Kremlikova Pourova, Manuela Vaneckova, Pavlina Skalicka, Jana Jedlickova, Marie Trkova, Bradley Williams, Gabriele Richard, Kristine Bachman, Andrea H. Seeley, Deborah Costakos, Thomas M Glaser, Alex V. Levin, Petra Liskova, Jeffrey C. Murray, Elena V. Semina

doi: 10.1136/jmg-2022-108646

July 25, 2022

Novel disease loci
Identification of RNF13 as cause of recessively inherited ALS in a multi-case pedigree

Marzieh Khani, Shahriar Nafissi, Hosein Shamshiri, Hamidreza Moazzeni, Hanieh Taheri, Elahe Elahi

doi: 10.1136/jmg-2022-108645

July 20, 2022

Phenotypes
Refining nosology by modelling variation among facial phenotypes: the RASopathies

Harold Matthews, Michiel Vanneste, Kaitlin Katsura, David Aponte, Michael Patton, Peter Hammond, Gareth Baynam, Richard Spritz, Ophir D Klein, Benedikt Hallgrimsson, Hilde Peeters, Peter Claes

doi: 10.1136/jmedgenet-2021-108366
Biochemical genetics
Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China

Yuelin Shen, Xiaolei Tang, Qionghua Chen, Hui Xu, Hui Liu, Jinrong Liu, Haiming Yang, Huimin Li, Shunying Zhao

doi: 10.1136/jmg-2022-108501

July 11, 2022

Cancer genetics
Decision-making and regret in patients with germline CDH1 variants undergoing prophylactic total gastrectomy

Lauren A Gamble, Robert R C Grant, Sarah G Samaranayake, Grace-Ann Fasaye, Christopher Koh, Louis Korman, Bilal Asif, Theo Heller, Jonathan M Hernandez, Andrew M Blakely, Jeremy L Davis

doi: 10.1136/jmg-2022-108733

July 05, 2022

Developmental defects
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans

Samir Bouasker, Nisha Patel, Rebecca Greenlees, Diana Wellesley, Lucas Fares Taie, Naif A Almontashiri, Julia Baptista, Malak Ali Alghamdi, Sarah Boissel, Jelena Martinovic, Ivan Prokudin, Samantha Holden, Hardeep-Singh Mudhar, Lisa G Riley, Christina Nassif, Tania Attie-Bitach, Marguerite Miguet, Marion Delous, Sylvain Ernest, Julie Plaisancié, Patrick Calvas, Jean-Michel Rozet, Arif O Khan, Fadi F Hamdan, Robyn V Jamieson, Fowzan S Alkuraya, Jacques L Michaud, Nicolas Chassaing

doi: 10.1136/jmedgenet-2022-108475

June 16, 2022

Neurogenetics
A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia

Eran Cohen-Barak, Nada Danial-Farran, Elana Chervinsky, Ola Alimi-Kasem, Fadia Zagairy, Ido Livneh, Bannan Mawassi, Maysa Hreish, Morad Khayat, Alexander Lossos, Vardiella Meiner, Nina Ehilevitch, Karin Weiss, Stavit Shalev

doi: 10.1136/jmedgenet-2022-108508

June 03, 2022

Screening
Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study

Jane M Tiller, Nicole E Cousens, Rajneesh Kaur, Simone Rowley, Yi-An Ko, Sakshi Mahale, Agnes Bankier, Bettina Meiser, Kristine Barlow-Stewart, Leslie Burnett, Chris Jacobs, Paul James, Alison Trainer, Suzanne Neil, Ian G Campbell, Lesley Andrews, Martin Delatycki

doi: 10.1136/jmedgenet-2022-108519

June 02, 2022

Genotype-phenotype correlations
FSIP2 plays a role in the acrosome development during spermiogenesis

Rui Zheng, Yan Wang, Yaqian Li, Juncen Guo, Yuting Wen, Chuan Jiang, Yihong Yang, Ying Shen

doi: 10.1136/jmedgenet-2021-108406

May 25, 2022

Neurogenetics
Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder

Masashi Nishikawa, Marcello Scala, Muhammad Umair, Hidenori Ito, Ahmed Waqas, Pasquale Striano, Federico Zara, Gregory Costain, Valeria Capra, Koh-ichi Nagata

doi: 10.1136/jmedgenet-2022-108483

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

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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