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Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development
Laurie A Steiner, Michael Getman, Gillian M Schiralli Lester, M Anwar Iqbal, Philip Katzman, Przemyslaw Szafranski, Pawel Stankiewicz, Soumyaroop Bhattacharya, Thomas Mariani, Gloria Pryhuber, Xin Lin, Jennifer L Young, David A Dean, Kristin Scheible

Journal of Medical Genetics May 2020, 57 (5) 296-300; DOI: 10.1136/jmedgenet-2019-106095
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy
Nayeralsadat Fatemi, Najmeh Salehi, Laura Pignata, Pietro Palumbo, Maria Vittoria Cubellis, Fariba Ramazanali, Pierre Ray, Maryam Varkiani, Fakhreddin Reyhani-Sabet, Alireza Biglari, Angela Sparago, Basilia Acurzio, Orazio Palumbo, Massimo Carella, Andrea Riccio, Mehdi Totonchi

Journal of Medical Genetics Nov 2021, 58 (11) 783-788; DOI: 10.1136/jmedgenet-2020-106909
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
Michael Volodarsky, Jennifer Kerkhof, Alan Stuart, Michael Levy, Lauren I Brady, Mark Tarnopolsky, Hanxin Lin, Peter Ainsworth, Bekim Sadikovic

Journal of Medical Genetics Apr 2021, 58 (4) 284-288; DOI: 10.1136/jmedgenet-2019-106641
Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting
Thomas Eggermann, Florian Kraft, Eva Lausberg, Katrin Ergezinger, Erdmute Kunstmann

Journal of Medical Genetics Mar 2021, 58 (3) 173-176; DOI: 10.1136/jmedgenet-2020-106868
15q11.2 deletion is enriched in patients with total anomalous pulmonary venous connection
Xiaoliang Li, Guocheng Shi, Yang Li, Xiaoqing Zhang, Ying Xiang, Teng Wang, Yanxin Li, Huiwen Chen, Qihua Fu, Hong Zhang, Bo Wang

Journal of Medical Genetics Feb 2021, 58 (2) 116-124; DOI: 10.1136/jmedgenet-2019-106608
Rare and de novo duplications containing SHOX in clubfoot
Brooke Sadler, Gabe Haller, Lilian Antunes, Momchil Nikolov, Ina Amarillo, Bradley Coe, Matthew B. Dobbs, Christina A. Gurnett

Journal of Medical Genetics Dec 2020, 57 (12) 851-857; DOI: 10.1136/jmedgenet-2020-106842
Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank
Lucija Brcic, Jack FG Underwood, Kimberley M Kendall, Xavier Caseras, George Kirov, William Davies

Journal of Medical Genetics Oct 2020, 57 (10) 692-698; DOI: 10.1136/jmedgenet-2019-106676
Contribution of de novo and inherited rare CNVs to very preterm birth
Hilary S Wong, Megan Wadon, Alexandra Evans, George Kirov, Neena Modi, Michael C O'Donovan, Anita Thapar

Journal of Medical Genetics Aug 2020, 57 (8) 552-557; DOI: 10.1136/jmedgenet-2019-106619
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses
Laura Addis, William Sproviero, Sanjeev V Thomas, Roberto H Caraballo, Stephen J Newhouse, Kumudini Gomez, Elaine Hughes, Maria Kinali, David McCormick, Siobhan Hannan, Silvia Cossu, Jacqueline Taylor, Cigdem I Akman, Steven M Wolf, David E Mandelbaum, Rajesh Gupta, Rick A van der Spek, Dario Pruna, Deb K Pal

Journal of Medical Genetics Sep 2018, 55 (9) 607-616; DOI: 10.1136/jmedgenet-2018-105319
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome
Chaker Aloui, Stéphanie Guey, Eva Pipiras, Manoelle Kossorotoff, Sophie Guéden, Michaelle Corpechot, Pierre Bessou, Jean-Michel Pedespan, Marie Husson, Dominique Hervé, Florence Riant, Markus Kraemer, Julie Steffann, Olivier Quenez, Elisabeth Tournier-Lasserve

Journal of Medical Genetics May 2020, 57 (5) 339-346; DOI: 10.1136/jmedgenet-2019-106525

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