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molecular diagnostic techniques

  • Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey
    Sophie Allen, Lucy Loong, Alice Garrett, Bethany Torr, Miranda Durkie, James Drummond, Alison Callaway, Rachel Robinson, George J Burghel, Helen Hanson, Joanne Field, Trudi McDevitt, Terri P McVeigh, Tina Bedenham, Christopher Bowles, Kirsty Bradshaw, Claire Brooks, Samantha Butler, Juan Carlos Del Rey Jimenez, Lorraine Hawkes, Victoria Stinton, Suzanne MacMahon, Martina Owens, Sheila Palmer-Smith, Kenneth Smith, James Tellez, Mikel Valganon-Petrizan, Erik Waskiewicz, Michael Yau, Diana M Eccles, Marc Tischkowitz, Shilpi Goel, Fiona McRonald, Antonis C Antoniou, Eva Morris, Steven Hardy, Clare Turnbull
    Journal of Medical Genetics Apr 2024, 61 (4) 305-312; DOI: 10.1136/jmg-2023-109645
  • Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
    Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, Karin Schaeferhoff, Laura Kühlewein, Friederike Kortüm, Dennis Witt, Alexandra Liebmann, Ruth Falb, Lisa Pohl, Milda Reith, Lara G Stühn, Miriam Bertrand, Amelie Müller, Nicolas Casadei, Olga Kelemen, Carina Kelbsch, Christoph Kernstock, Paul Richter, Francoise Sadler, German Demidov, Leon Schütz, Jakob Admard, Marc Sturm, Ute Grasshoff, Felix Tonagel, Tilman Heinrich, Fadi Nasser, Bernd Wissinger, Stephan Ossowski, Susanne Kohl, Olaf Riess, Katarina Stingl, Tobias B Haack
    Journal of Medical Genetics Feb 2024, 61 (2) 186-195; DOI: 10.1136/jmg-2023-109470
  • Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
    Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, Karin Schaeferhoff, Laura Kühlewein, Friederike Kortüm, Dennis Witt, Alexandra Liebmann, Ruth Falb, Lisa Pohl, Milda Reith, Lara G Stühn, Miriam Bertrand, Amelie Müller, Nicolas Casadei, Olga Kelemen, Carina Kelbsch, Christoph Kernstock, Paul Richter, Francoise Sadler, German Demidov, Leon Schütz, Jakob Admard, Marc Sturm, Ute Grasshoff, Felix Tonagel, Tilman Heinrich, Fadi Nasser, Bernd Wissinger, Stephan Ossowski, Susanne Kohl, Olaf Riess, Katarina Stingl, Tobias B Haack
    Journal of Medical Genetics Sep 2023, jmg-2023-109470; DOI: 10.1136/jmg-2023-109470
  • Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication
    Mathilde Filser, Mathias Schwartz, Kevin Merchadou, Abderaouf Hamza, Marie-Charlotte Villy, Antoine Decees, Eléonore Frouin, Elodie Girard, Sandrine M Caputo, Victor Renault, Véronique Becette, Lisa Golmard, Nicolas Servant, Dominique Stoppa-Lyonnet, Olivier Delattre, Chrystelle Colas, Julien Masliah-Planchon
    Journal of Medical Genetics Dec 2023, 60 (12) 1206-1209; DOI: 10.1136/jmg-2023-109155
  • Strategic validation of variants of uncertain significance in ECHS1 genetic testing
    Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, Tomohiro Ebihara, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Noriko Ichino, Yoshie Nagatakidani, Hitomi Nishihata, Kazuhiro R Nitta, Yukiko Yatsuka, Atsuko Imai-Okazaki, Yibo Wu, Hitoshi Osaka, Akira Ohtake, Kei Murayama, Yasushi Okazaki
    Journal of Medical Genetics Oct 2023, 60 (10) 1006-1015; DOI: 10.1136/jmg-2022-109027
  • Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples
    Yeqing Qian, Yan Sun, Xueqin Guo, Lijie Song, Yixi Sun, Xiaoyang Gao, Bei Liu, Yuqing Xu, Na Chen, Min Chen, Yuqin Luo, Zhihong Qiao, Linlin Fan, Jianfen Man, Kang Zhang, Xiaoli Wang, Tingting Rong, Zhonghua Wang, Fengxia Liu, Jing Zhao, Xiaoming Wei, Minfeng Chen, Zhiyu Peng, Huanhuan Peng, Jun Sun, Minyue Dong
    Journal of Medical Genetics Oct 2023, 60 (10) 933-938; DOI: 10.1136/jmg-2022-109112
  • Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis
    Gaurav Joshi, Nancy Beryl Janet Arthur, Thenral S Geetha, Phaneendra Venkateswara Rao Datari, Kirti Modak, Debanjan Roy, Anurag Dutta Chaudhury, Prasanth Sundaraganesan, Sweety Priyanka, Fouzia NA, Vedam Ramprasad, Aby Abraham, Vivi M Srivastava, Alok Srivastava, Uday Prakash Kulkarni, Biju George, Shaji R Velayudhan
    Journal of Medical Genetics Aug 2023, 60 (8) 801-809; DOI: 10.1136/jmg-2022-108714
  • Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes
    Beyhan Tuysuz, Dilek Uludag Alkaya, Filiz Geyik, Merve Alaylıoğlu, Busra Kasap, Sebuh Kurugoğlu, Yunus Emre Akman, Mehmet Vural, Kaya Bilguvar
    Journal of Medical Genetics Aug 2023, 60 (8) 819-826; DOI: 10.1136/jmg-2022-108763
  • 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
  • Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1
    Alistair T Pagnamenta, Jing Yu, Julie Evans, Philip Twiss, Genomics England Research Consortium, Musculoskeletal GeCIP MDT, Amaka C Offiah, Mohamed Wafik, Sarju G Mehta, Mohammed K Javaid, Sarah F Smithson, Jenny C Taylor
    Journal of Medical Genetics May 2023, 60 (5) 505-510; DOI: 10.1136/jmg-2022-108753

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