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genetics

  • A model for the return and referral of all clinically significant secondary findings of genomic sequencing
    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
    Journal of Medical Genetics Aug 2023, 60 (8) 733-739; DOI: 10.1136/jmg-2022-109091
  • Clinical and genetic features of GATOR1 complex-associated epilepsy
    Kaili Yin, Xingxing Lei, Zhaofen Yan, Yujiao Yang, Qinqin Deng, Qiang Lu, Xue Zhang, Mengyang Wang, Qing Liu
    Journal of Medical Genetics Aug 2023, 60 (8) 784-790; DOI: 10.1136/jmg-2021-108364
  • Population-based analysis of POT1 variants in a cutaneous melanoma case–control cohort
    Irving Simonin-Wilmer, Raul Ossio, Emmett M Leddin, Mark Harland, Karen A Pooley, Mauricio Gerardo Martil de la Garza, Sofia Obolenski, James Hewinson, Chi C Wong, Vivek Iyer, John C Taylor, Julia A Newton-Bishop, D Timothy Bishop, Gerardo Andrés Cisneros, Mark M Iles, David J Adams, Carla Daniela Robles-Espinoza
    Journal of Medical Genetics Jul 2023, 60 (7) 692-696; DOI: 10.1136/jmg-2022-108776
  • Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function
    Rebecca S Tooze, Eduardo Calpena, Stephen R F Twigg, Felice D’Arco, The Genomics England Research Consortium, Emma L Wakeling, Andrew O M Wilkie
    Journal of Medical Genetics Jul 2023, 60 (7) 712-716; DOI: 10.1136/jmg-2022-108946
  • Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
    Elena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, Saoud Tahsin Swafiri, Rosario Lopez-Rodriguez, Rebeca Losada-Del Pozo, Ignacio Mahillo-Fernandez, Beatriz Moreno, Maria Rodrigo-Moreno, Didac Casas-Alba, Aitor Lopez-Gonzalez, Sixto García-Miñaúr, Maria Ángeles Mori, Marta Pacio-Minguez, Emi Rikeros-Orozco, Fernando Santos-Simarro, Jaime Cruz-Rojo, Juan Francisco Quesada-Espinosa, Maria Teresa Sanchez-Calvin, Jaime Sanchez-del Pozo, Raquel Bernado Fonz, Maria Isidoro-Garcia, Irene Ruiz-Ayucar, Maria Isabel Alvarez-Mora, Raquel Blanco-Lago, Begoña De Azua, Jesus Eiris, Juan Jose Garcia-Peñas, Belen Gil-Fournier, Carmen Gomez-Lado, Nadia Irazabal, Vanessa Lopez-Gonzalez, Irene Madrigal, Ignacio Malaga, Beatriz Martinez-Menendez, Soraya Ramiro-Leon, Maria Garcia-Hoyos, Pablo Prieto-Matos, Javier Lopez-Pison, Sergio Aguilera-Albesa, Sara Alvarez, Alberto Fernández-Jaén, Isabel Llano-Rivas, Blanca Gener-Querol, Carmen Ayuso, Ana Arteche-Lopez, Maria Palomares-Bralo, Anna Cueto-González, Irene Valenzuela, Antonio Martinez-Monseny, Isabel Lorda-Sanchez, Berta Almoguera
    Journal of Medical Genetics Jul 2023, 60 (7) 644-654; DOI: 10.1136/jmg-2022-108632
  • Public willingness to participate in population DNA screening in Australia
    Jane M Tiller, Andrew Bakshi, Adam R Brotchie, Robert C Green, Ingrid M Winship, Paul Lacaze
    Journal of Medical Genetics Jul 2023, 60 (7) 662-668; DOI: 10.1136/jmg-2022-108921
  • Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes
    Jean-Loup Méreaux, Claire-Sophie Davoine, Marie Coutelier, Léna Guillot-Noël, Anna Castrioto, Perrine Charles, Giulia Coarelli, Claire Ewenczyk, Stephan Klebe, Anna Heinzmann, Aurélie Méneret, Anne-Laure Fauret-Amsellem, Jean-Madeleine de Sainte Agathe, Alexis Brice, Alexandra Durr
    Journal of Medical Genetics Jul 2023, 60 (7) 717-721; DOI: 10.1136/jmg-2022-108924
  • A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype
    Marie Véronique Gaudet, Eric Pierre Allain, Lynne M Gallant, Heleen H Arts, Mouna Ben Amor
    Journal of Medical Genetics Feb 2023, 60 (2) 134-136; DOI: 10.1136/jmedgenet-2021-108288
  • 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
    Journal of Medical Genetics Feb 2023, 60 (2) 154-162; DOI: 10.1136/jmedgenet-2021-108137
  • 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
    Journal of Medical Genetics Feb 2023, 60 (2) 183-192; DOI: 10.1136/jmedgenet-2021-107971

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