genetics

  • Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp HBB deletion
    Xunde Wang, Julia Z Xu, Anna Conrey, Laurel Mendelsohn, Daniel Shriner, Mehdi Pirooznia, Swee Lay Thein
  • De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities
    Roya Bina, Dena Matalon, Brieana Fregeau, Jacqueline Joani Tarsitano, Ingvild Aukrust, Gunnar Houge, Renee Bend, Hannah Warren, Roger E Stevenson, Kyra Eva Stuurman, A James Barkovich, Elliott H. Sherr
  • Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson’s disease
    Hampton Leonard, Cornelis Blauwendraat, Lynne Krohn, Faraz Faghri, Hirotaka Iwaki, Glen Ferguson, Aaron G Day-Williams, David J Stone, Andrew B Singleton, Mike A Nalls, Ziv Gan-Or
  • Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome
    Chaker Aloui, Stéphanie Guey, Eva Pipiras, Manoelle Kossorotoff, Sophie Guéden, Michaelle Corpechot, Pierre Bessou, Jean-Michel Pedespan, Marie Husson, Dominique Hervé, Florence Riant, Markus Kraemer, Julie Steffann, Olivier Quenez, Elisabeth Tournier-Lasserve
  • Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies
    Massimo Bogliolo, Roser Pujol, Miriam Aza-Carmona, Núria Muñoz-Subirana, Benjamin Rodriguez-Santiago, José Antonio Casado, Paula Rio, Christopher Bauser, Judith Reina-Castillón, Marcos Lopez-Sanchez, Lidia Gonzalez-Quereda, Pia Gallano, Albert Catalá, Ana Ruiz-Llobet, Isabel Badell, Cristina Diaz-Heredia, Raquel Hladun, Leonort Senent, Bienvenida Argiles, Juan Miguel Bergua Burgues, Fatima Bañez, Beatriz Arrizabalaga, Ricardo López Almaraz, Monica Lopez, Ángela Figuera, Antonio Molinés, Inmaculada Pérez de Soto, Inés Hernando, Juan Antonio Muñoz, Maria del Rosario Marin, Judith Balmaña, Neda Stjepanovic, Estela Carrasco, Isabel Cuesta, José Miguel Cosuelo, Alexandra Regueiro, José Moraleda Jimenez, Ana Maria Galera-Miñarro, Laura Rosiñol, Anna Carrió, Cristina Beléndez-Bieler, Antonio Escudero Soto, Elena Cela, Gregorio de la Mata, Rafael Fernández-Delgado, Maria Carmen Garcia-Pardos, Raquel Sáez-Villaverde, Marta Barragaño, Raquel Portugal, Francisco Lendinez, Ines Hernadez, José Manue Vagace, Maria Tapia, José Nieto, Marta Garcia, Macarena Gonzalez, Cristina Vicho, Eva Galvez, Alberto Valiente, Maria Luisa Antelo, Phil Ancliff, Francisco Garcia, Joaquin Dopazo, Julian Sevilla, Tobias Paprotka, Luis Alberto Pérez-Jurado, Juan Bueren, Jordi Surralles
  • NEK11 as a candidate high-penetrance melanoma susceptibility gene
    Eirini Christodoulou, Remco van Doorn, Mijke Visser, Amina Teunisse, Mieke Versluis, Pieter van der Velden, Nicholas K Hayward, Aart Jochemsen, Nelleke Gruis
  • Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
    Rowida Almomani, Johanna C Herkert, Anna Posafalvi, Jan G Post, Ludolf G Boven, Paul A van der Zwaag, Peter H G M Willems, Ingrid H van Veen-Hof, Judith M A Verhagen, Marja W Wessels, Peter G J Nikkels, Liesbeth T Wintjes, Maarten P van den Berg, Richard J Sinke, Richard J Rodenburg, Klary E Niezen-Koning, J Peter van Tintelen, Jan D H Jongbloed
  • CCMG practice guideline: laboratory guidelines for next-generation sequencing
    Stacey Hume, Tanya N Nelson, Marsha Speevak, Elizabeth McCready, Ron Agatep, Harriet Feilotter, Jillian Parboosingh, Dimitri J Stavropoulos, Sherryl Taylor, Tracy L Stockley
  • Reasons for and time to retraction of genetics articles published between 1970 and 2018
    Rafael Dal-Ré, Carmen Ayuso
  • Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease
    Jianwen Deng, Muliang Gu, Yu Miao, Sheng Yao, Min Zhu, Pu Fang, Xuefan Yu, Pidong Li, Yanan Su, Jian Huang, Jun Zhang, Jiaxi Yu, Fan Li, Jing Bai, Wei Sun, Yining Huang, Yun Yuan, Daojun Hong, Zhaoxia Wang

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