Works matching IS 20567944 AND DT 2022 AND VI 7 AND IP 1

Results: 76
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    SMAD6-deficiency in human genetic disorders.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00338-5
    By:
    • Luyckx, Ilse;
    • Verstraeten, Aline;
    • Goumans, Marie-José;
    • Loeys, Bart
    Publication type:
    Article
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    Best practices for the interpretation and reporting of clinical whole genome sequencing.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00295-z
    By:
    • Austin-Tse, Christina A.;
    • Jobanputra, Vaidehi;
    • Perry, Denise L.;
    • Bick, David;
    • Taft, Ryan J.;
    • Venner, Eric;
    • Gibbs, Richard A.;
    • Young, Ted;
    • Barnett, Sarah;
    • Belmont, John W.;
    • Boczek, Nicole;
    • Chowdhury, Shimul;
    • Ellsworth, Katarzyna A.;
    • Guha, Saurav;
    • Kulkarni, Shashikant;
    • Marcou, Cherisse;
    • Meng, Linyan;
    • Murdock, David R.;
    • Rehman, Atteeq U.;
    • Spiteri, Elizabeth
    Publication type:
    Article
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    Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00334-9
    By:
    • Haer-Wigman, Lonneke;
    • den Ouden, Amber;
    • van Genderen, Maria M.;
    • Kroes, Hester Y.;
    • Verheij, Joke;
    • Smailhodzic, Dzenita;
    • Hoekstra, Attje S.;
    • Vijzelaar, Raymon;
    • Blom, Jan;
    • Derks, Ronny;
    • Tjon-Pon-Fong, Menno;
    • Yntema, Helger G.;
    • Nelen, Marcel R.;
    • Vissers, Lisenka E.L.M.;
    • Lugtenberg, Dorien;
    • Neveling, Kornelia
    Publication type:
    Article
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    Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00331-y
    By:
    • Miyatake, Satoko;
    • Koshimizu, Eriko;
    • Fujita, Atsushi;
    • Doi, Hiroshi;
    • Okubo, Masaki;
    • Wada, Taishi;
    • Hamanaka, Kohei;
    • Ueda, Naohisa;
    • Kishida, Hitaru;
    • Minase, Gaku;
    • Matsuno, Atsuhiro;
    • Kodaira, Minori;
    • Ogata, Katsuhisa;
    • Kato, Rumiko;
    • Sugiyama, Atsuhiko;
    • Sasaki, Ayako;
    • Miyama, Takabumi;
    • Satoh, Mai;
    • Uchiyama, Yuri;
    • Tsuchida, Naomi
    Publication type:
    Article
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    Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00330-z
    By:
    • Jurkute, Neringa;
    • Cancellieri, Francesca;
    • Pohl, Lisa;
    • Li, Catherina H. Z.;
    • Heaton, Robert A.;
    • Reurink, Janine;
    • Bellingham, James;
    • Quinodoz, Mathieu;
    • Yioti, Georgia;
    • Stefaniotou, Maria;
    • Weener, Marianna;
    • Zuleger, Theresia;
    • Haack, Tobias B.;
    • Stingl, Katarina;
    • Genomics England Research Consortium;
    • Ambrose, J. C.;
    • Arumugam, P.;
    • Bevers, R.;
    • Bleda, M.;
    • Boardman-Pretty, F.
    Publication type:
    Article
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    Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00327-8
    By:
    • Kerick, Martin;
    • Acosta-Herrera, Marialbert;
    • Simeón-Aznar, Carmen Pilar;
    • Callejas, José Luis;
    • Assassi, Shervin;
    • International SSc Group;
    • Carreira, P.;
    • Castellvi, I.;
    • Ríos, R.;
    • Portales, R. García;
    • Fernández-Nebro, A.;
    • García-Hernández, F. J.;
    • Aguirre, M. A.;
    • Fernández-Gutiérrez, B.;
    • Rodríguez-Rodríguez, L.;
    • de la Peña, P. García;
    • Vicente, E.;
    • Andreu, J. L.;
    • de Castro, M. Fernández;
    • López-Longo, F. J.
    Publication type:
    Article
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    Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00325-w
    By:
    • Che, Huiwen;
    • Jatsenko, Tatjana;
    • Lannoo, Lore;
    • Stanley, Kate;
    • Dehaspe, Luc;
    • Vancoillie, Leen;
    • Brison, Nathalie;
    • Parijs, Ilse;
    • Van Den Bogaert, Kris;
    • Devriendt, Koenraad;
    • Severi, Sabien;
    • De Langhe, Ellen;
    • Vermeire, Severine;
    • Verstockt, Bram;
    • Van Calsteren, Kristel;
    • Vermeesch, Joris Robert
    Publication type:
    Article
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    A translational genomics approach identifies IL10RB as the top candidate gene target for COVID-19 susceptibility.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00324-x
    By:
    • Voloudakis, Georgios;
    • Vicari, James M.;
    • Venkatesh, Sanan;
    • Hoffman, Gabriel E.;
    • Dobrindt, Kristina;
    • Zhang, Wen;
    • Beckmann, Noam D.;
    • Higgins, Christina A.;
    • Argyriou, Stathis;
    • Jiang, Shan;
    • Hoagland, Daisy;
    • Gao, Lina;
    • Corvelo, André;
    • Cho, Kelly;
    • Lee, Kyung Min;
    • Bian, Jiantao;
    • Lee, Jennifer S.;
    • Iyengar, Sudha K.;
    • Luoh, Shiuh-Wen;
    • Akbarian, Schahram
    Publication type:
    Article
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    Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00317-w
    By:
    • Lobanov, Sergey V.;
    • McAllister, Branduff;
    • McDade-Kumar, Mia;
    • Landwehrmeyer, G. Bernhard;
    • Orth, Michael;
    • Rosser, Anne E.;
    • REGISTRY Investigators of the European Huntington's disease network;
    • Paulsen, Jane S.;
    • PREDICT-HD Investigators of the Huntington Study Group;
    • Lee, Jong-Min;
    • MacDonald, Marcy E.;
    • Gusella, James F.;
    • Long, Jeffrey D.;
    • Ryten, Mina;
    • Williams, Nigel M.;
    • Holmans, Peter;
    • Massey, Thomas H.;
    • Jones, Lesley
    Publication type:
    Article
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    Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00323-y
    By:
    • Horton, Carolyn;
    • Cass, Ashley;
    • Conner, Blair R.;
    • Hoang, Lily;
    • Zimmermann, Heather;
    • Abualkheir, Nelly;
    • Burks, David;
    • Qian, Dajun;
    • Molparia, Bhuvan;
    • Vuong, Huy;
    • LaDuca, Holly;
    • Grzybowski, Jessica;
    • Durda, Kate;
    • Pilarski, Robert;
    • Profato, Jessica;
    • Clayback, Katherine;
    • Mahoney, Martin;
    • Schroeder, Courtney;
    • Torres-Martinez, Wilfredo;
    • Elliott, Aaron
    Publication type:
    Article
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    Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00316-x
    By:
    • Boonsawat, Paranchai;
    • Horn, Anselm H. C.;
    • Steindl, Katharina;
    • Baumer, Alessandra;
    • Joset, Pascal;
    • Kraemer, Dennis;
    • Bahr, Angela;
    • Ivanovski, Ivan;
    • Cabello, Elena M.;
    • Papik, Michael;
    • Zweier, Markus;
    • Oneda, Beatrice;
    • Sirleto, Pietro;
    • Burkhardt, Tilo;
    • Sticht, Heinrich;
    • Rauch, Anita
    Publication type:
    Article
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    A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00314-z
    By:
    • Simeone, Christopher A.;
    • Wilkerson, Joseph L.;
    • Poss, Annelise M.;
    • Banks, James A.;
    • Varre, Joseph V.;
    • Guevara, Jose Lazaro;
    • Hernandez, Edgar Javier;
    • Gorsi, Bushra;
    • Atkinson, Donald L.;
    • Turapov, Tursun;
    • Frodsham, Scott G.;
    • Morales, Julio C. Fierro;
    • O'Neil, Kristina;
    • Moore, Barry;
    • Yandell, Mark;
    • Summers, Scott A.;
    • Krolewski, Andrzej S.;
    • Holland, William L.;
    • Pezzolesi, Marcus G.
    Publication type:
    Article
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    Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00311-2
    By:
    • Perea-Romero, Irene;
    • Solarat, Carlos;
    • Blanco-Kelly, Fiona;
    • Sanchez-Navarro, Iker;
    • Bea-Mascato, Brais;
    • Martin-Salazar, Eduardo;
    • Lorda-Sanchez, Isabel;
    • Swafiri, Saoud Tahsin;
    • Avila-Fernandez, Almudena;
    • Martin-Merida, Inmaculada;
    • Trujillo-Tiebas, Maria Jose;
    • Carreño, Ester;
    • Jimenez-Rolando, Belen;
    • Garcia-Sandoval, Blanca;
    • Minguez, Pablo;
    • Corton, Marta;
    • Valverde, Diana;
    • Ayuso, Carmen
    Publication type:
    Article
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    Methylome-wide analysis of IVF neonates that underwent embryo culture in different media revealed no significant differences.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00310-3
    By:
    • Koeck, Rebekka M.;
    • Busato, Florence;
    • Tost, Jorg;
    • Consten, Dimitri;
    • van Echten-Arends, Jannie;
    • Mastenbroek, Sebastiaan;
    • Wurth, Yvonne;
    • Remy, Sylvie;
    • Langie, Sabine;
    • Nawrot, Tim S.;
    • Plusquin, Michelle;
    • Alfano, Rossella;
    • Bijnens, Esmée M.;
    • Gielen, Marij;
    • van Golde, Ron;
    • Dumoulin, John C. M.;
    • Brunner, Han;
    • van Montfoort, Aafke P. A.;
    • Zamani Esteki, Masoud
    Publication type:
    Article
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    Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00308-x
    By:
    • Giannuzzi, Giuliana;
    • Chatron, Nicolas;
    • Mannik, Katrin;
    • Auwerx, Chiara;
    • Pradervand, Sylvain;
    • Willemin, Gilles;
    • Hoekzema, Kendra;
    • Nuttle, Xander;
    • Chrast, Jacqueline;
    • Sadler, Marie C.;
    • Porcu, Eleonora;
    • 16p11.2 Consortium;
    • Männik, Katrin;
    • Sanlaville, Damien;
    • Schluth-Bolard, Caroline;
    • Le Caignec, Cédric;
    • Nizon, Mathilde;
    • Martin, Sandra;
    • Jacquemont, Sébastien;
    • Bottani, Armand
    Publication type:
    Article
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    Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00306-z
    By:
    • Reurink, Janine;
    • de Vrieze, Erik;
    • Li, Catherina H. Z.;
    • van Berkel, Emma;
    • Broekman, Sanne;
    • Aben, Marco;
    • Peters, Theo;
    • Oostrik, Jaap;
    • Neveling, Kornelia;
    • Venselaar, Hanka;
    • Ramos, Mariana Guimarães;
    • Gilissen, Christian;
    • Astuti, Galuh D. N.;
    • Galbany, Jordi Corominas;
    • van Lith-Verhoeven, Janneke J. C.;
    • Ockeloen, Charlotte W.;
    • Haer-Wigman, Lonneke;
    • Hoyng, Carel B.;
    • Cremers, Frans P. M.;
    • Kremer, Hannie
    Publication type:
    Article
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    Nucleosome footprinting in plasma cell-free DNA for the pre-surgical diagnosis of ovarian cancer.

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00300-5
    By:
    • Vanderstichele, Adriaan;
    • Busschaert, Pieter;
    • Landolfo, Chiara;
    • Olbrecht, Siel;
    • Coosemans, An;
    • Froyman, Wouter;
    • Loverix, Liselore;
    • Concin, Nicole;
    • Braicu, Elena Ioana;
    • Wimberger, Pauline;
    • Van Nieuwenhuysen, Els;
    • Han, Sileny N.;
    • Van Gorp, Toon;
    • Venken, Tom;
    • Heremans, Ruben;
    • Neven, Patrick;
    • Bourne, Tom;
    • Van Calster, Ben;
    • Timmerman, Dirk;
    • Lambrechts, Diether
    Publication type:
    Article