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Molecular genetics

  • 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 May 2020, jmedgenet-2020-106970; DOI: 10.1136/jmedgenet-2020-106970
  • 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
  • NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum
    Virginia Kimonis, Rehab al Dubaisi, Andrew E Maclean, Kathy Hall, Lan Weiss, Alexander E Stover, Philip H Schwartz, Bethany Berg, Cheng Cheng, Sumit Parikh, Blair R Conner, Sitao Wu, Anton N Hasso, Daryl A Scott, Mary Kay Koenig, Rachid Karam, Sha Tang, Moyra Smith, Elizabeth Chao, Janneke Balk, Eli Hatchwell, Peggy S Eis
    Journal of Medical Genetics May 2021, 58 (5) 314-325; DOI: 10.1136/jmedgenet-2020-106846
  • Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality
    Marilena Elpidorou, Sunayna Best, James A Poulter, Verity Hartill, Emma Hobson, Eamonn Sheridan, Colin A Johnson
    Journal of Medical Genetics May 2021, 58 (5) 334-341; DOI: 10.1136/jmedgenet-2020-106873
  • Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1
    Noor Ul Ain, Marta Baroncelli, Alice Costantini, Tayyaba Ishaq, Fulya Taylan, Ola Nilsson, Outi Mäkitie, Sadaf Naz
    Journal of Medical Genetics May 2021, 58 (5) 351-356; DOI: 10.1136/jmedgenet-2020-106929
  • 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 Mar 2021, jmedgenet-2020-106932; DOI: 10.1136/jmedgenet-2020-106932
  • Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability
    Arisha Rasheed, Evren Gumus, Maha Zaki, Katherine Johnson, Humera Manzoor, Geneva LaForce, Danica Ross, Jennifer McEvoy-Venneri, Valentina Stanley, Sangmoon Lee, Abbir Virani, Tawfeg Ben-Omran, Joseph G Gleeson, Sadaf Naz, Ashleigh Schaffer
    Journal of Medical Genetics Apr 2021, 58 (4) 237-246; DOI: 10.1136/jmedgenet-2020-106849
  • Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study
    Salma Shickh, Mariana Gutierrez Salazar, Kathleen-Rose Zakoor, Conxi Lázaro, Jessica Gu, Jamie Goltz, Dakota Kleinman, Abdul Noor, Sam Khalouei, Chloe Mighton, Emma Reble, Rita Kodida, Yvonne Bombard, Stephanie DiTroia, Samantha Baxter, Nicholas Watkins, Melanie Care, Arnon Adler, Sheri Horsburgh, Oana Morar, Jillian Murphy, Dayna-Lynn Nevay, Marta Szybowska, Melyssa Aronson, Seema Panchal, Ruth Godoy, Spring Holter, Susan Randall Armel, Kara Semotiuk, Christine Elser, Raymond H Kim, David Chitayat, Joyce So, Hanna Faghfoury, Josh Silver, Chantal F Morel, Jordan Lerner-Ellis
    Journal of Medical Genetics Apr 2021, 58 (4) 275-283; DOI: 10.1136/jmedgenet-2020-106936

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