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Molecular genetics

  • SETD1B-associated neurodevelopmental disorder
    Alexandra Roston, Dan Evans, Harinder Gill, Margaret McKinnon, Bertrand Isidor, Benjamin Cogné, Jill Mwenifumbo, Clara van Karnebeek, Jianghong An, Steven J M Jones, Matthew Farrer, Michelle Demos, Mary Connolly, William T Gibson, CAUSES Study
    Journal of Medical Genetics Mar 2021, 58 (3) 196-204; DOI: 10.1136/jmedgenet-2019-106756
  • Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia
    Maria Tarilonte, Patricia Ramos, Jennifer Moya, Guilermo Fernandez-Sanz, Fiona Blanco-Kelly, Saoud Tahsin Swafiri, Cristina Villaverde, Raquel Romero, Alejandra Tamayo, Blanca Gener, Patrick Calvas, Carmen Ayuso, Marta Corton
    Journal of Medical Genetics May 2022, 59 (5) 428-437; DOI: 10.1136/jmedgenet-2020-106932
  • DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
    Jonathan Marquez, Nina Mann, Kathya Arana, Engin Deniz, Weizhen Ji, Monica Konstantino, Emily K Mis, Charu Deshpande, Lauren Jeffries, Julie McGlynn, Hannah Hugo, Eugen Widmeier, Martin Konrad, Velibor Tasic, Raffaella Morotti, Julia Baptista, Sian Ellard, Saquib Ali Lakhani, Friedhelm Hildebrandt, Mustafa K Khokha
    Journal of Medical Genetics Jul 2021, 58 (7) 453-464; DOI: 10.1136/jmedgenet-2019-106805
  • Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis
    Weisha Luan, Chen-Zhi Hao, Jia-Qi Li, Qing Wei, Jing-Yu Gong, Yi-Ling Qiu, Yi Lu, Cong-Huan Shen, Qiang Xia, Xin-Bao Xie, Mei-Hong Zhang, Kuerbanjiang Abuduxikuer, Zhong-Die Li, Li Wang, Qing-He Xing, A S Knisely, Jian-She Wang
    Journal of Medical Genetics Aug 2021, 58 (8) 514-525; DOI: 10.1136/jmedgenet-2019-106706
  • Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy
    Valeria Morbidoni, Emanuele Agolini, Kevin C Slep, Luca Pannone, Daniela Zuccarello, Matteo Cassina, Enrico Grosso, Giorgia Gai, Leonardo Salviati, Bruno Dallapiccola, Antonio Novelli, Simone Martinelli, Eva Trevisson
    Journal of Medical Genetics Aug 2021, 58 (8) 526-533; DOI: 10.1136/jmedgenet-2020-106833
  • Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population
    Hui Dong, Khyati Chandratre, Yue Qin, Jing Zhang, Xiaoqing Tian, Ce Rong, Ning Wang, Maoni Guo, Guoping Zhao, San Ming Wang
    Journal of Medical Genetics Aug 2021, 58 (8) 565-569; DOI: 10.1136/jmedgenet-2020-106970
  • Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
    Gina Ravenscroft, Joshua S Clayton, Fathimath Faiz, Padma Sivadorai, Di Milnes, Rob Cincotta, Phillip Moon, Ben Kamien, Matthew Edwards, Martin Delatycki, Phillipa J Lamont, Sophelia HS Chan, Alison Colley, Alan Ma, Felicity Collins, Lucinda Hennington, Teresa Zhao, George McGillivray, Sondhya Ghedia, Katherine Chao, Anne O'Donnell-Luria, Nigel G Laing, Mark R Davis
    Journal of Medical Genetics Sep 2021, 58 (9) 609-618; DOI: 10.1136/jmedgenet-2020-106901
  • Co-occurrence of germline BRCA1 and CDH1 pathogenic variants
    Marie-Charlotte Villy, Emmanuelle Mouret-Fourme, Lisa Golmard, Véronique Becette, Nasrine Callet, Gilles Marx, Chrystelle Colas, Dominique Lamarque, Etienne Rouleau, Dominique Stoppa-Lyonnet
    Journal of Medical Genetics Jun 2021, 58 (6) 357-361; DOI: 10.1136/jmedgenet-2020-106972
  • Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
    Martijn Baas, Elise Bette Burger, Ans MW van den Ouweland, Steven ER Hovius, Annelies de Klein, Christianne A van Nieuwenhoven, Robert Jan H Galjaard
    Journal of Medical Genetics Jun 2021, 58 (6) 362-368; DOI: 10.1136/jmedgenet-2020-106948
  • Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations
    Mathilde Lefebvre, Ange-Line Bruel, Emilie Tisserant, Nicolas Bourgon, Yannis Duffourd, Sophie Collardeau-Frachon, Tania Attie-Bitach, Paul Kuentz, Mirna assoum, Elise Schaefer, Salima El Chehadeh, Maria Cristina Antal, Valérie Kremer, Françoise Girard-Lemaitre, Jean-Louis Mandel, Daphne Lehalle, Sophie Nambot, Nolwenn Jean-Marçais, Nada Houcinat, Sébastien Moutton, Nathalie Marle, Laetita Lambert, Philippe Jonveaux, Bernard Foliguet, Jean-Pierre Mazutti, Dominique Gaillard, Elisabeth Alanio, Celine Poirisier, Anne-Sophie Lebre, Marion Aubert-Lenoir, Francine Arbez-Gindre, Sylvie Odent, Chloé Quélin, Philippe Loget, Melanie Fradin, Marjolaine Willems, Nicole Bigi, Marie-José Perez, Sophie Blesson, Christine Francannet, Anne-Marie Beaufrere, Sophie Patrier-Sallebert, Anne-Marie Guerrot, Alice Goldenberg, Anne-Claire Brehin, James Lespinasse, Renaud Touraine, Yline Capri, Marie-Hélène Saint-Frison, Nicole Laurent, Christophe Philippe, Frederic Tran Mau-them, Julien Thevenon, Laurence Faivre, Christel Thauvin-Robinet, Antonio Vitobello
    Journal of Medical Genetics Jun 2021, 58 (6) 400-413; DOI: 10.1136/jmedgenet-2020-106867

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