sequence analysis, DNA

  • Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation
    Shino Shimada, Bobby G Ng, Amy L White, Kim K Nickander, Coleman Turgeon, Kristen L Liedtke, Christina T Lam, Esperanza Font-Montgomery, Charles M Lourenco, Miao He, Dawn S Peck, Luis A Umana, Crescenda L Uhles, Devon Haynes, Patricia G Wheeler, Michael J Bamshad, Deborah A Nickerson, Tom Cushing, Ryan Gates, Natalia Gomez-Ospina, Heather M Byers, UW Center for Mendelian Genomics, Fernanda B Scalco, Noelia N Martinez, Rani Sachdev, Lacey Smith, Annapurna Poduri, Stephen Malone, Rebekah V Harris, Ingrid E Scheffer, Sergio D Rosenzweig, David R Adams, William A Gahl, May Christine V Malicdan, Kimiyo M Raymond, Hudson H Freeze, Lynne A Wolfe
  • Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing
    Yusuke Sano, Yoshito Koyanagi, Jing Hao Wong, Yusuke Murakami, Kohta Fujiwara, Mikiko Endo, Tomomi Aoi, Kazuki Hashimoto, Toru Nakazawa, Yuko Wada, Shinji Ueno, Dan Gao, Akira Murakami, Yoshihiro Hotta, Yasuhiro Ikeda, Koji M Nishiguchi, Yukihide Momozawa, Koh-Hei Sonoda, Masato Akiyama, Akihiro Fujimoto
  • Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India
    Kruti Varshney, Sanjeeva Ghanti Narayanachar, Katta M Girisha, Gandham SriLakshmi Bhavani, Dhanyalakshmi Narayanan, Shubha Phadke, Sheela Nampoothiri, Gautham Arunachal Udupi, Palany Raghupathy, Mohandas Nair, Thenral S Geetha, Meenakshi Bhat
  • A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon
    Helle Høyer, Hilde T Hilmarsen, Raute Sunder-Plassmann, Geir J Braathen, Peter M Andersen, Christian Beetz, Sandra Hacker, Øystein L Holla, Ingo Kurth, Wolfgang N Löscher, Simone B C F Reiter, Sabine Rudnik-Schöneborn, Linda Strand, Reinhard Windhager, Martina Witsch-Baumgartner, Jan Senderek, Michaela Auer-Grumbach
  • Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
    Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, Diana Carli, Carlotta Ranieri, Antonino Pantaleo, Paola Sabrina Buonuomo, Rosanna Bagnulo, Giovanni Battista Ferrero, Andrea Bartuli, Daniela Melis, Silvia Maitz, Daria Carmela Loconte, Antonella Turchiano, Marilidia Piglionica, Annunziata De Luisi, Francesco Claudio Susca, Nenad Bukvic, Cinzia Forleo, Angelo Selicorni, Giuseppe Zampino, Roberta Onesimo, Gerarda Cappuccio, Livia Garavelli, Chiara Novelli, Luigi Memo, Carla Morando, Matteo Della Monica, Maria Accadia, Martina Capurso, Carmelo Piscopo, Anna Cereda, Marilena Carmela Di Giacomo, Veronica Saletti, Alessandro Mauro Spinelli, Patrizia Lastella, Romano Tenconi, Veronika Dvorakova, Alan D Irvine, Nicoletta Resta