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Molecular genetics

  • 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
  • Integrated case-control and somatic-germline interaction analyses of soft-tissue sarcoma
    Fulan Hu, Yao Yu, Jiun-Sheng Chen, Hao Hu, Paul Scheet, Chad D. Huff
    Journal of Medical Genetics Mar 2021, 58 (3) 145-153; DOI: 10.1136/jmedgenet-2019-106814
  • Genetic and functional insights into CDA-I prevalence and pathogenesis
    Aude-Anais Olijnik, Noémi B A Roy, Caroline Scott, Joseph A Marsh, Jill Brown, Karin Lauschke, Katrine Ask, Nigel Roberts, Damien J Downes, Sanja Brolih, Errin Johnson, Barbara Xella, Melanie Proven, Ria Hipkiss, Kate Ryan, Per Frisk, Johan Mäkk, Eva-Lena Maria Stattin, Nandini Sadasivam, Louisa McIlwaine, Quentin A Hill, Raffaele Renella, Jim R Hughes, Richard J Gibbons, Anja Groth, Peter J McHugh, Douglas R Higgs, Veronica J Buckle, Christian Babbs
    Journal of Medical Genetics Mar 2021, 58 (3) 185-195; DOI: 10.1136/jmedgenet-2020-106880
  • 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
  • Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics
    Maram Arafat, Avi Harlev, Iris Har-Vardi, Eliahu Levitas, Tsvia Priel, Moran Gershoni, Charles Searby, Val C Sheffield, Eitan Lunenfeld, Ruti Parvari
    Journal of Medical Genetics Feb 2021, 58 (2) 106-115; DOI: 10.1136/jmedgenet-2019-106825
  • Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis
    Emily P McCann, Lyndal Henden, Jennifer A Fifita, Katharine Y Zhang, Natalie Grima, Denis C Bauer, Sandrine Chan Moi Fat, Natalie A Twine, Roger Pamphlett, Matthew C Kiernan, Dominic B Rowe, Kelly L Williams, Ian P Blair
    Journal of Medical Genetics Feb 2021, 58 (2) 87-95; DOI: 10.1136/jmedgenet-2020-106866
  • A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss
    Suzanne E de Bruijn, Jeroen J Smits, Chang Liu, Cornelis P Lanting, Andy J Beynon, Joëlle Blankevoort, Jaap Oostrik, Wouter Koole, Erik de Vrieze, Cor W R J Cremers, Frans P M Cremers, Susanne Roosing, Helger G Yntema, Henricus P M Kunst, Bo Zhao, Ronald J E Pennings, Hannie Kremer
    Journal of Medical Genetics Feb 2021, 58 (2) 96-104; DOI: 10.1136/jmedgenet-2020-106863
  • Redefinition of familial intestinal gastric cancer: clinical and genetic perspectives
    Joana Carvalho, Patricia Oliveira, Janine Senz, Celina São José, Samantha Hansford, Sara Pinto Teles, Marta Ferreira, Giovanni Corso, Hugo Pinheiro, Diana Lemos, Valeria Pascale, Franco Roviello, David Huntsman, Carla Oliveira
    Journal of Medical Genetics Jan 2021, 58 (1) 1-11; DOI: 10.1136/jmedgenet-2019-106346

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