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BMJ Journals

Published Ahead of Print

Cancer genetics

Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2
D Gareth Evans, George J Burghel, Sacha J Howell, Sarah Pugh, Claire Forde, Anthony Howell, Fiona Lalloo, Emma Roisin Woodward

Journal of Medical Genetics Apr 2024, jmg-2023-109826; DOI: 10.1136/jmg-2023-109826
Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus
Terri Patricia McVeigh, Kevin J Monahan, Joseph Christopher, Nick West, Malcolm Scott, Jennie Murray, Helen Hanson

Journal of Medical Genetics Mar 2024, jmg-2024-109886; DOI: 10.1136/jmg-2024-109886
BRCA awareness and testing experience in the UK Jewish population: a qualitative study
Katrina Sarig, Samuel Oxley, Ashwin Kalra, Monika Sobocan, Caitlin T Fierheller, Michail Sideris, Tamar Gootzen, Michelle Ferris, Rosalind A Eeles, D Gareth Evans, Samantha L Quaife, Ranjit Manchanda

Journal of Medical Genetics Apr 2024, jmg-2023-109576; DOI: 10.1136/jmg-2023-109576
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency
Léa Guerrini-Rousseau, Eric Pasmant, Martine Muleris, Samuel Abbou, Tiphaine Adam-De-Beaumais, Laurence Brugieres, Odile Cabaret, Chrystelle Colas, Sophie Cotteret, Philippe Decq, Christelle Dufour, Erell Guillerm, Etienne Rouleau, Pascale Varlet, Saïma Zili, Dominique Vidaud, Jacques Grill

Journal of Medical Genetics Sep 2023, jmg-2023-109235; DOI: 10.1136/jmg-2023-109235
Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer
Panagiotis Baliakas, Arielle R Munters, Anders Kämpe, Bianca Tesi, Marie-Louise Bondeson, Claes Ladenvall, Daniel Eriksson

Journal of Medical Genetics Aug 2023, jmg-2023-109311; DOI: 10.1136/jmg-2023-109311
Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC)
Kelly Kohut, Beverley Speight, Julie Young, Rosalind Way, Jennifer Wiggins, Laura Monje-Garcia, Diana M Eccles, Claire Foster, Lesley Turner, Katie Snape, Helen Hanson, on behalf of the CanGene-CanVar Patient Reference Panel

Journal of Medical Genetics Dec 2023, jmg-2023-109440; DOI: 10.1136/jmg-2023-109440
Recurrent BRCA2 exon 3 deletion in Assyrian families
Rachel Hodan, Kerry Kingham, Allison W Kurian

Journal of Medical Genetics Sep 2023, jmg-2023-109430; DOI: 10.1136/jmg-2023-109430

Clinical guidelines

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B Cooper, Sofia Douzgou Houge, Sixto García-Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa Lopez Gonzalez, Leonie A Menke, Donatella Milani, Francesco Saettini, Cathy A Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M Van Genderen, Julien Van-Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, Antonia H M Bouts, Anna M Cueto-González, Elena Dominguez-Garrido, Floor A Duijkers, Patricia Fergelot, Elizabeth Halstead, Sylvia A Huisman, Camilla Meossi, Jo Mullins, Sarah M Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos-Simarro, Brittany N Simpson, David F Smith, Markus F Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Irene Valenzuena Palafoll, Daniëlle C M Van Der Kaay, Michiel P Van Wijk, Klea Vyshka, Susan Wiley, Raoul C Hennekam

Journal of Medical Genetics Mar 2024, jmg-2023-109438; DOI: 10.1136/jmg-2023-109438

Correction

Correction 2: A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct
Journal of Medical Genetics Jul 2023, jmedgenet-2017-104721corr2; DOI: 10.1136/jmedgenet-2017-104721corr2

Developmental defects

Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene
Wu-Lin Charng, Momchil Nikolov, Isabel Shrestha, Mark A Seeley, Navya Shilpa Josyula, Anne E Justice, Matthew B Dobbs, Christina A Gurnett

Journal of Medical Genetics Apr 2024, jmg-2024-109846; DOI: 10.1136/jmg-2024-109846

Diagnostics

Systematic reanalysis of copy number losses of uncertain clinical significance
George J Burghel, Jamie M Ellingford, Ronnie Wright, Lauren Bradford, Jake Miller, Christopher Watt, Jonathan Edgerley, Farah Naeem, Siddharth Banka

Journal of Medical Genetics Apr 2024, jmg-2023-109559; DOI: 10.1136/jmg-2023-109559
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases
Kensuke Goto, Yoshito Koyanagi, Masato Akiyama, Yusuke Murakami, Masatoshi Fukushima, Kohta Fujiwara, Hanae Iijima, Mitsuyo Yamaguchi, Mikiko Endo, Kazuki Hashimoto, Masataka Ishizu, Toshiaki Hirakata, Kei Mizobuchi, Masakazu Takayama, Junya Ota, Ai Fujita Sajiki, Taro Kominami, Hiroaki Ushida, Kosuke Fujita, Hiroki Kaneko, Shinji Ueno, Takaaki Hayashi, Chikashi Terao, Yoshihiro Hotta, Akira Murakami, Kazuki Kuniyoshi, Shunji Kusaka, Yuko Wada, Toshiaki Abe, Toru Nakazawa, Yasuhiro Ikeda, Yukihide Momozawa, Koh-Hei Sonoda, Koji M Nishiguchi

Journal of Medical Genetics Mar 2024, jmg-2023-109750; DOI: 10.1136/jmg-2023-109750
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, Karin Schaeferhoff, Laura Kühlewein, Friederike Kortüm, Dennis Witt, Alexandra Liebmann, Ruth Falb, Lisa Pohl, Milda Reith, Lara G Stühn, Miriam Bertrand, Amelie Müller, Nicolas Casadei, Olga Kelemen, Carina Kelbsch, Christoph Kernstock, Paul Richter, Francoise Sadler, German Demidov, Leon Schütz, Jakob Admard, Marc Sturm, Ute Grasshoff, Felix Tonagel, Tilman Heinrich, Fadi Nasser, Bernd Wissinger, Stephan Ossowski, Susanne Kohl, Olaf Riess, Katarina Stingl, Tobias B Haack

Journal of Medical Genetics Sep 2023, jmg-2023-109470; DOI: 10.1136/jmg-2023-109470
Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of ‘gene-negative’ individuals recruited to the 100 000 Genomes Project
Claire L Shovlin, Fatma I Almaghlouth, Ali Alsafi, Nicola Coote, Catherine Rennie, Gillian MF Wallace, Fatima S Govani, Genomics England Research Consortium

Journal of Medical Genetics Aug 2023, jmg-2023-109195; DOI: 10.1136/jmg-2023-109195

Epigenetics

Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia
Lucie Thomas, Laurence Cuisset, Jean-Francois Papon, Aline Tamalet, Isabelle Pin, Rola Abou Taam, Catherine Faucon, Guy Montantin, Sylvie Tissier, Philippe Duquesnoy, Florence Dastot - Le Moal, Bruno Copin, Nathalie Carion, Bruno Louis, Sandra Chantot-Bastaraud, Jean-Pierre Siffroi, Rana Mitri, André Coste, Estelle Escudier, Guillaume Thouvenin, Serge Amselem, Marie Legendre

Journal of Medical Genetics Feb 2024, jmg-2023-109700; DOI: 10.1136/jmg-2023-109700
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum
Ken Higashimoto, Feifei Sun, Eri Imagawa, Ken Saida, Noriko Miyake, Satoshi Hara, Hitomi Yatsuki, Musashi Kubiura-Ichimaru, Atsushi Fujita, Takeshi Mizuguchi, Naomichi Matsumoto, Hidenobu Soejima

Journal of Medical Genetics Jan 2024, jmg-2023-109621; DOI: 10.1136/jmg-2023-109621

Ethics and policy

Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort
Bree E Martin, Tristan Sands, Louise Bier, Amanda Bergner, Amelia K Boehme, Natalie Lippa

Journal of Medical Genetics Mar 2024, jmg-2023-109450; DOI: 10.1136/jmg-2023-109450

Genome-wide studies

Association between genetic polymorphisms and risk of adolescent idiopathic scoliosis in case-control studies: a systematic review
Elizabeth Terhune, Patricia Heyn, Christi Piper, Cambria Wethey, Anna Monley, Melissa Cuevas, Nancy Hadley Miller

Journal of Medical Genetics Sep 2023, jmg-2022-108993; DOI: 10.1136/jmg-2022-108993

Genotype-phenotype correlations

Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein
Paras A Patel, Leslie E W LaConte, Chen Liang, Thomas Cecere, Deepa Rajan, Sarika Srivastava, Konark Mukherjee

Journal of Medical Genetics Apr 2024, jmg-2023-109747; DOI: 10.1136/jmg-2023-109747
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome
Mónica Centeno-Pla, Estefanía Alcaide-Consuegra, Sophie Gibson, Aina Prat-Planas, Juan Diego Gutiérrez-Ávila, Daniel Grinberg, Roser Urreizti, Raquel Rabionet, Susanna Balcells

Journal of Medical Genetics Mar 2024, jmg-2024-109898; DOI: 10.1136/jmg-2024-109898
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
Umut Altunoglu, Adrian Palencia-Campos, Nilay Güneş, Gozde Tutku Turgut, Julian Nevado, Pablo Lapunzina, Maria Valencia, Asier Iturrate, Ghada Otaify, Rasha Elhossini, Adel Ashour, Asmaa K. Amin, Rania F Elnahas, Elisa Fernandez-Nuñez, Carmen-Lisset Flores, Pedro Arias, Jair Tenorio, Carlos Israel Chamorro Fernández, Yeliz Güven, Elif Özsu, Beray Selver Eklioğlu, Marisol Ibarra-Ramirez, Birgitte Rode Diness, Birute Burnyte, Houda Ajmi, Zafer Yüksel, Ruken Yıldırım, Edip Ünal, Ebtesam Abdalla, Mona Aglan, Hulya Kayserili, Beyhan Tuysuz, Victor Ruiz-Pérez

Journal of Medical Genetics Mar 2024, jmg-2023-109546; DOI: 10.1136/jmg-2023-109546
Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation
Yalan Wan, Chao Zhou, Xingzhi Chang, Liwen Wu, Yilei Zheng, Jiaxi Yu, Li Bai, Mingyue Luan, Meng Yu, Qi Wang, Wei Zhang, Yun Yuan, Jianwen Deng, Zhaoxia Wang

Journal of Medical Genetics Feb 2024, jmg-2023-109786; DOI: 10.1136/jmg-2023-109786
De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops
Maayke A de Koning, Paula A Pimienta Ramirez, Monique C Haak, Xiao Han, Martina HA Ruiterkamp-Versteeg, Nicole de Leeuw, Ulrich A Schatz, Moneef Shoukier, Esther Rieger-Fackeldey, Javier U Ortiz, Sjoerd G van Duinen, Willemijn M Klein, Ruben S G M Witlox, Richard H Finnell, Gijs W E Santen, Yunping Lei, Manon Suerink

Journal of Medical Genetics Jan 2024, jmg-2023-109698; DOI: 10.1136/jmg-2023-109698
Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans
Rui Guo, Huan Wu, Xiaoyu Zhu, Guanxiong Wang, Kaiqin Hu, Kuokuo Li, Hao Geng, Chuan Xu, Chenwan Zu, Yang Gao, Dongdong Tang, Yunxia Cao, Xiaojin He

Journal of Medical Genetics Feb 2024, jmg-2023-109766; DOI: 10.1136/jmg-2023-109766
Heterozygous deletion of HOXC10-HOXC9 causes lower limb abnormalities in congenital vertical talus
Liheng Chen, Shuoyang Zhao, Wenxia Song, Lihong Wang, Zerong Yao, Jianfei Gao, Xiaoze Li

Journal of Medical Genetics Jan 2024, jmg-2023-109656; DOI: 10.1136/jmg-2023-109656
Genotype and phenotype correlation of PHACTR1-related neurological disorders
Zhao Xu, Lynette Sadleir, Himanshu Goel, Xianru Jiao, Yue Niu, Zongpu Zhou, Guillem de Valles-Ibáñez, Gemma Poke, Michael Hildebrand, Nico Lieffering, Jiong Qin, Zhixian Yang

Journal of Medical Genetics Jan 2024, jmg-2023-109638; DOI: 10.1136/jmg-2023-109638
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice
Max Drabkin, Matan M Jean, Yael Noy, Daniel Halperin, Yuval Yogev, Ohad Wormser, Regina Proskorovski-Ohayon, Vadim Dolgin, Noam Levaot, Vlad Brumfeld, Shira Ovadia, Mor Kishner, Udi Kazenell, Karen B Avraham, Ilan Shelef, Ohad S Birk

Journal of Medical Genetics Jun 2023, jmg-2023-109264; DOI: 10.1136/jmg-2023-109264
Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction
Nan Zhou, Qianhao Zhao, Rui Li, Ruofei Cheng, Qiuping Wu, Jianding Cheng, Yangxin Chen

Journal of Medical Genetics Jun 2023, jmg-2023-109278; DOI: 10.1136/jmg-2023-109278
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
Katalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, David Geneviève, Flavien Rouxel, Denis Morin, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Wesley G Patterson, Raymond Louie, Filippo Pinto e Vairo, Eric Klee, Charu Kaiwar, Ralitza H Gavrilova, Katherine E Agre, Sebastien Jacquemont, Jizi Khadijé, Jacques Giltay, Koen van Gassen, Gabriella Merő, Erica Gerkes, Bregje W Van Bon, Tuula Rinne, Rolph Pfundt, Han G Brunner, Oana Caluseriu, Ute Grasshoff, Martin Kehrer, Tobias B Haack, Melik Malek Khelifa, Anke Katharina Bergmann, Anna Maria Cueto-González, Ariadna Campos Martorell, Shwetha Ramachandrappa, Lindsey B Sawyer, Pascale Fasel, Dominique Braun, Atallah Isis, Andrea Superti-Furga, Vanda McNiven, David Chitayat, Syed Anas Ahmed, Heiko Brennenstuhl, Eva MC Schwaibolf, Gladys Battisti, Benoit Parmentier, Servi J C Stevens

Journal of Medical Genetics Aug 2023, jmg-2022-109030; DOI: 10.1136/jmg-2022-109030
GRN mutation spectrum and genotype–phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort
Caiyan Liu, Liling Dong, Jie Wang, Jie Li, Xinying Huang, Dan Lei, Chenhui Mao, Shanshan Chu, Longze Sha, Qi Xu, Bin Peng, Liying Cui, Jing Gao

Journal of Medical Genetics Jan 2024, jmg-2023-109499; DOI: 10.1136/jmg-2023-109499

Methods

A comparative medical genomics approach may facilitate the interpretation of rare missense variation
Bushra Haque, George Guirguis, Meredith Curtis, Hera Mohsin, Susan Walker, Michelle M Morrow, Gregory Costain

Journal of Medical Genetics Mar 2024, jmg-2023-109760; DOI: 10.1136/jmg-2023-109760

Miscellaneous

Correction: SETD1B-associated neurodevelopmental disorder
Journal of Medical Genetics Aug 2022, jmedgenet-2019-106756corr1; DOI: 10.1136/jmedgenet-2019-106756corr1

Neurogenetics

ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes
Ming-Feng He, Li-Hong Liu, Sheng Luo, Juan Wang, Jia-Jun Guo, Peng-Yu Wang, Qiong-Xiang Zhai, Su-Li He, Dong-Fang Zou, Xiao-Rong Liu, Bing-Mei Li, Hai-Yan Ma, Jing-Da Qiao, Peng Zhou, Na He, Yong-Hong Yi, Wei-Ping Liao

Journal of Medical Genetics Mar 2024, jmg-2023-109725; DOI: 10.1136/jmg-2023-109725
Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service
Jade Howard, Hilary L Bekker, Christopher J McDermott, Alisdair McNeill

Journal of Medical Genetics Mar 2024, jmg-2023-109735; DOI: 10.1136/jmg-2023-109735
Exploring the molecular pathways linking sleep phenotypes and POGZ-associated neurodevelopmental disorder
Bruna Pereira Marquezini, Mariana Moysés-Oliveira, Anna Kloster, Lais Cunha, Tais Bassani Deconto, Amanda Cristina Mosini, Pedro Guerreiro, Mayara Paschalidis, Luana Nayara Gallego Adami, Monica Levy Andersen, Sergio Tufik

Journal of Medical Genetics Feb 2024, jmg-2023-109508; DOI: 10.1136/jmg-2023-109508
ZNF142 mutation causes sex-dependent neurologic disorder
Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, Zamir Shorer, Rotem Kadir, Daniel Halperin, Max Drabkin, Yuval Yogev, Sarit Aharoni, Noam Hadar, Hagit Cohen, Ekaterina Eremenko, Yonatan Perez, Ohad S Birk

Journal of Medical Genetics Jan 2024, jmg-2023-109447; DOI: 10.1136/jmg-2023-109447
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals
Lottie D. Morison, Milou G.P. Kennis, Dmitrijs Rots, Arianne Bouman, Joost Kummeling, Elizabeth Palmer, Adam P. Vogel, Frederique Liegeois, Amanda Brignell, Siddharth Srivastava, Zoe Frazier, Di Milnes, Himanshu Goel, David J. Amor, Ingrid E. Scheffer, Tjitske Kleefstra, Angela T. Morgan

Journal of Medical Genetics Jan 2024, jmg-2023-109702; DOI: 10.1136/jmg-2023-109702

Novel disease loci

Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism
Jianhai Chen, Yangying Jia, Jie Zhong, Kun Zhang, Hongzheng Dai, Guanglin He, Fuping Li, Li Zeng, Chuanzhu Fan, Huayan Xu

Journal of Medical Genetics Apr 2024, jmg-2024-109896; DOI: 10.1136/jmg-2024-109896
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
Claire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, Sunayna Best, Rachel L Taylor, James A Poulter, Saskia B Wortmann, Rene G Feichtinger, Johannes A Mayr, Suhaila Al Bahlani, Georgios Nikolopoulos, Alice Rigby, Graeme C Black, Christopher M Watson, Sahar Mansour, Chris F Inglehearn, Alan J Mighell, Agnès Bloch-Zupan

Journal of Medical Genetics Mar 2024, jmg-2023-109728; DOI: 10.1136/jmg-2023-109728
NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways
Sipeng Zhang, Jie Yang, Dandan Ji, Xinyi Meng, Chonggui Zhu, Gang Zheng, Joseph Glessner, Hui-Qi Qu, Yuechen Cui, Yichuan Liu, Wei Wang, Xiumei Li, Hao Zhang, Zhanjie Xiu, Yan Sun, Ling Sun, Jie Li, Hakon Hakonarson, Jin Li, Qianghua Xia

Journal of Medical Genetics Mar 2024, jmg-2023-109385; DOI: 10.1136/jmg-2023-109385
Evidence of a genetic background predisposing to complex regional pain syndrome type 1
Samiha S Shaikh, Andreas Goebel, Michael C Lee, Michael S Nahorski, Nicholas Shenker, Yunisa Pamela, Ichrak Drissi, Christopher Brown, Gillian Ison, Maliha F Shaikh, Anoop Kuttikat, William A Woods, Abhishek Dixit, Kaitlin Stouffer, Murray CH Clarke, David K Menon, C Geoffrey Woods

Journal of Medical Genetics Sep 2023, jmg-2023-109236; DOI: 10.1136/jmg-2023-109236
TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy
Yuchen Chang, Julie Wacker, Jodie Ingles, Ivan Macciocca, Ingrid King, The Australian Genomics Cardiovascular Disorders Flagship, Christopher Semsarian, Julie McGaughran, Robert G Weintraub, Richard D Bagnall

Journal of Medical Genetics Sep 2023, jmg-2023-109455; DOI: 10.1136/jmg-2023-109455

Phenotypes

Phenotypic characterisation of SMAD4 variant carriers
Claire Caillot, Jean-Christophe Saurin, Valérie Hervieu, Marie Faoucher, Julie Reversat, Evelyne Decullier, Gilles Poncet, Sabine Bailly, Sophie Giraud, Sophie Dupuis-Girod

Journal of Medical Genetics Apr 2024, jmg-2023-109632; DOI: 10.1136/jmg-2023-109632
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
Pauline Marzin, Sophie Rondeau, Jean-Luc Alessandri, Klaus Dieterich, Carine le Goff, Clémentine Mahaut, Sandra Mercier, Caroline Michot, Oana Moldovan, Gianmaria Miolo, Massimiliano Rossi, Julien Van-Gils, Christine Francannet, Matthieu P Robert, Jean-Philippe Jaïs, Céline Huber, Valerie Cormier-Daire

Journal of Medical Genetics Sep 2023, jmg-2023-109288; DOI: 10.1136/jmg-2023-109288

Review

Further characterisation of ARX-related disorders in females due to inherited or de novo variants
Mathilde Gras, Solveig Heide, Boris Keren, Stéphanie Valence, Catherine Garel, Sandra Whalen, Anna C Jansen, Kathelijn Keymolen, Katrien Stouffs, Mélanie Jennesson, Céline Poirsier, Gaetan Lesca, Christel Depienne, Caroline Nava, Agnès Rastetter, Aurore Curie, Laurence Cuisset, Vincent Des Portes, Mathieu Milh, Perrine Charles, Cyril Mignot, Delphine Héron

Journal of Medical Genetics Oct 2023, jmg-2023-109203; DOI: 10.1136/jmg-2023-109203

Screening

Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study
Han-Ying Chen, Shin-Yu Lin, Jin-Chung Shih, Jessica Kang, Yi-Yun Tai, Steven W. Shaw, Kuang-Cheng Chen, Kevin Mai, Chien-Nan Lee

Journal of Medical Genetics Oct 2023, jmg-2023-109268; DOI: 10.1136/jmg-2023-109268

Therapeutics

Response to commentary: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study – determination of immunogenicity
David G Warnock, Eric L Wallace

Journal of Medical Genetics Apr 2024, jmg-2024-109876; DOI: 10.1136/jmg-2024-109876
Comment to: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study—determination of immunogenicity
Malte Lenders, Eva Brand

Journal of Medical Genetics Mar 2024, jmg-2023-109818; DOI: 10.1136/jmg-2023-109818
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study
Eric L Wallace, Ozlem Goker-Alpan, William R Wilcox, Myrl Holida, John Bernat, Nicola Longo, Aleš Linhart, Derralynn A Hughes, Robert J Hopkin, Camilla Tøndel, Mirjam Langeveld, Pilar Giraldo, Antonio Pisani, Dominique Paul Germain, Ankit Mehta, Patrick B Deegan, Maria Judit Molnar, Damara Ortiz, Ana Jovanovic, Michael Muriello, Bruce A Barshop, Virginia Kimonis, Bojan Vujkovac, Albina Nowak, Tarekegn Geberhiwot, Ilkka Kantola, Jasmine Knoll, Stephen Waldek, Khan Nedd, Amel Karaa, Einat Brill-Almon, Sari Alon, Raul Chertkoff, Rossana Rocco, Anat Sakov, David G Warnock

Journal of Medical Genetics Nov 2023, jmg-2023-109445; DOI: 10.1136/jmg-2023-109445

Vision science

Cerebral visual impairment: genetic diagnoses and phenotypic associations
Emogene Shaw, Ian Flitcroft, Richard Bowman, Kate Baker

Journal of Medical Genetics Mar 2024, jmg-2023-109670; DOI: 10.1136/jmg-2023-109670

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Published Ahead of Print

Cancer genetics

Clinical guidelines

Correction

Developmental defects

Diagnostics

Epigenetics

Ethics and policy

Genome-wide studies

Genotype-phenotype correlations

Methods

Miscellaneous

Neurogenetics

Novel disease loci

Phenotypes

Review

Screening

Therapeutics

Vision science