Works matching IS 1756994X AND DT 2023 AND VI 15 AND IP 1

Results: 119
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    Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01246-8
    By:
    • Josephs, Katherine S.;
    • Roberts, Angharad M.;
    • Theotokis, Pantazis;
    • Walsh, Roddy;
    • Ostrowski, Philip J.;
    • Edwards, Matthew;
    • Fleming, Andrew;
    • Thaxton, Courtney;
    • Roberts, Jason D.;
    • Care, Melanie;
    • Zareba, Wojciech;
    • Adler, Arnon;
    • Sturm, Amy C.;
    • Tadros, Rafik;
    • Novelli, Valeria;
    • Owens, Emma;
    • Bronicki, Lucas;
    • Jarinova, Olga;
    • Callewaert, Bert;
    • Peters, Stacey
    Publication type:
    Article
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    Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01258-4
    By:
    • Lin, Sheng-Jia;
    • Vona, Barbara;
    • Lau, Tracy;
    • Huang, Kevin;
    • Zaki, Maha S.;
    • Aldeen, Huda Shujaa;
    • Karimiani, Ehsan Ghayoor;
    • Rocca, Clarissa;
    • Noureldeen, Mahmoud M.;
    • Saad, Ahmed K.;
    • Petree, Cassidy;
    • Bartolomaeus, Tobias;
    • Abou Jamra, Rami;
    • Zifarelli, Giovanni;
    • Gotkhindikar, Aditi;
    • Wentzensen, Ingrid M.;
    • Liao, Mingjuan;
    • Cork, Emalyn Elise;
    • Varshney, Pratishtha;
    • Hashemi, Narges
    Publication type:
    Article
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    Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01270-8
    By:
    • AlAbdi, Lama;
    • Shamseldin, Hanan E.;
    • Khouj, Ebtissal;
    • Helaby, Rana;
    • Aljamal, Bayan;
    • Alqahtani, Mashael;
    • Almulhim, Aisha;
    • Hamid, Halima;
    • Hashem, Mais O.;
    • Abdulwahab, Firdous;
    • Abouyousef, Omar;
    • Jaafar, Amal;
    • Alshidi, Tarfa;
    • Al-Owain, Mohammed;
    • Alhashem, Amal;
    • Al Tala, Saeed;
    • Khan, Arif O.;
    • Mardawi, Elham;
    • Alkuraya, Hisham;
    • Faqeih, Eissa
    Publication type:
    Article
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    Prenatal BRCA1 epimutations contribute significantly to triple-negative breast cancer development.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01262-8
    By:
    • Nikolaienko, Oleksii;
    • Eikesdal, Hans P.;
    • Ognedal, Elisabet;
    • Gilje, Bjørnar;
    • Lundgren, Steinar;
    • Blix, Egil S.;
    • Espelid, Helge;
    • Geisler, Jürgen;
    • Geisler, Stephanie;
    • Janssen, Emiel A. M.;
    • Yndestad, Synnøve;
    • Minsaas, Laura;
    • Leirvaag, Beryl;
    • Lillestøl, Reidun;
    • Knappskog, Stian;
    • Lønning, Per E.
    Publication type:
    Article
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    ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01214-2
    By:
    • Schlüter, Agatha;
    • Vélez-Santamaría, Valentina;
    • Verdura, Edgard;
    • Rodríguez-Palmero, Agustí;
    • Ruiz, Montserrat;
    • Fourcade, Stéphane;
    • Planas-Serra, Laura;
    • Launay, Nathalie;
    • Guilera, Cristina;
    • Martínez, Juan José;
    • Homedes-Pedret, Christian;
    • Albertí-Aguiló, M. Antonia;
    • Zulaika, Miren;
    • Martí, Itxaso;
    • Troncoso, Mónica;
    • Tomás-Vila, Miguel;
    • Bullich, Gemma;
    • García-Pérez, M. Asunción;
    • Sobrido-Gómez, María-Jesús;
    • López-Laso, Eduardo
    Publication type:
    Article
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    Systematic genomic analysis of SARS-CoV-2 co-infections throughout the pandemic and segregation of the strains involved.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01198-z
    By:
    • Peñas-Utrilla, Daniel;
    • Pérez-Lago, Laura;
    • Molero-Salinas, Andrea;
    • Estévez, Agustín;
    • Sanz, Amadeo;
    • Herranz, Marta;
    • Martínez-Laperche, Carolina;
    • Andrés-Zayas, Cristina;
    • Veintimilla, Cristina;
    • Catalán, Pilar;
    • Alonso, Roberto;
    • Muñoz, Patricia;
    • García de Viedma, Darío;
    • on behalf of the Gregorio Marañón Microbiology-ID COVID 19 Study Group;
    • Alcalá, Luis;
    • Aldámiz, Teresa;
    • Álvarez-Uría, Ana;
    • Bermúdez, Elena;
    • Bouza, Emilio;
    • Buenestado-Serrano, Sergio
    Publication type:
    Article
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    Rapid profiling of Plasmodium parasites from genome sequences to assist malaria control.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01247-7
    By:
    • Phelan, Jody E.;
    • Turkiewicz, Anna;
    • Manko, Emilia;
    • Thorpe, Joseph;
    • Vanheer, Leen N.;
    • van de Vegte-Bolmer, Marga;
    • Ngoc, Nguyen Thi Hong;
    • Binh, Nguyen Thi Huong;
    • Thieu, Nguyen Quang;
    • Gitaka, Jesse;
    • Nolder, Debbie;
    • Beshir, Khalid B.;
    • Dombrowski, Jamille G.;
    • Di Santi, Silvia Maria;
    • Bousema, Teun;
    • Sutherland, Colin J.;
    • Campino, Susana;
    • Clark, Taane G.
    Publication type:
    Article
    29

    Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01240-0
    By:
    • Pagnamenta, Alistair T.;
    • Camps, Carme;
    • Giacopuzzi, Edoardo;
    • Taylor, John M.;
    • Hashim, Mona;
    • Calpena, Eduardo;
    • Kaisaki, Pamela J.;
    • Hashimoto, Akiko;
    • Yu, Jing;
    • Sanders, Edward;
    • Schwessinger, Ron;
    • Hughes, Jim R.;
    • Lunter, Gerton;
    • Dreau, Helene;
    • Ferla, Matteo;
    • Lange, Lukas;
    • Kesim, Yesim;
    • Ragoussis, Vassilis;
    • Vavoulis, Dimitrios V.;
    • Allroggen, Holger
    Publication type:
    Article
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    Building blocks for better biorepositories in Africa.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01235-x
    By:
    • Croxton, Talishiea;
    • Jonathan, Emmanuel;
    • Suleiman, Kareemah;
    • Balogun, Olasinbo;
    • Ozumba, Petronilla J.;
    • Aloyo, Sharley M.;
    • Nsubuga, Gideon;
    • Kamulegeya, Rogers E.;
    • Newton, Lwanga;
    • Mukisa, John;
    • Kader, Mukthar;
    • Damaneite, Vuyo;
    • Nadoma, Sunji;
    • Onyemata, Ezenwa James;
    • Anzaku, Abbas Abel;
    • Nasinghe, Emmanuel;
    • Troyer, Jennifer;
    • Joubert, Bonnie R.;
    • Beiswanger, Christine;
    • Joloba, Moses L.
    Publication type:
    Article
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    Bacterial genome-wide association study substantiates papGII of Escherichia coli as a major risk factor for urosepsis.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01243-x
    By:
    • Cuénod, Aline;
    • Agnetti, Jessica;
    • Seth-Smith, Helena M. B.;
    • Roloff, Tim;
    • Wälchli, Denise;
    • Shcherbakov, Dimitri;
    • Akbergenov, Rashid;
    • Tschudin-Sutter, Sarah;
    • Bassetti, Stefano;
    • Siegemund, Martin;
    • Nickel, Christian H.;
    • Moran-Gilad, Jacob;
    • Keys, Timothy G.;
    • Pflüger, Valentin;
    • Thomson, Nicholas R.;
    • Egli, Adrian
    Publication type:
    Article
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    A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer's disease.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01206-2
    By:
    • Boeddrich, Annett;
    • Haenig, Christian;
    • Neuendorf, Nancy;
    • Blanc, Eric;
    • Ivanov, Andranik;
    • Kirchner, Marieluise;
    • Schleumann, Philipp;
    • Bayraktaroğlu, Irem;
    • Richter, Matthias;
    • Molenda, Christine Mirjam;
    • Sporbert, Anje;
    • Zenkner, Martina;
    • Schnoegl, Sigrid;
    • Suenkel, Christin;
    • Schneider, Luisa-Sophie;
    • Rybak-Wolf, Agnieszka;
    • Kochnowsky, Bianca;
    • Byrne, Lauren M.;
    • Wild, Edward J.;
    • Nielsen, Jørgen E.
    Publication type:
    Article
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    Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01228-w
    By:
    • Abdi, Mona;
    • Aliyev, Elbay;
    • Trost, Brett;
    • Kohailan, Muhammad;
    • Aamer, Waleed;
    • Syed, Najeeb;
    • Shaath, Rulan;
    • Gandhi, Geethanjali Devadoss;
    • Engchuan, Worrawat;
    • Howe, Jennifer;
    • Thiruvahindrapuram, Bhooma;
    • Geng, Melissa;
    • Whitney, Joe;
    • Syed, Amira;
    • Lakshmi, Jyothi;
    • Hussein, Sura;
    • Albashir, Najwa;
    • Hussein, Amal;
    • Poggiolini, Ilaria;
    • Elhag, Saba F.
    Publication type:
    Article
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    Multivariate GWAS of Alzheimer's disease CSF biomarker profiles implies GRIN2D in synaptic functioning.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01233-z
    By:
    • Neumann, Alexander;
    • Ohlei, Olena;
    • Küçükali, Fahri;
    • Bos, Isabelle J.;
    • Timsina, Jigyasha;
    • Vos, Stephanie;
    • Prokopenko, Dmitry;
    • Tijms, Betty M.;
    • Andreasson, Ulf;
    • Blennow, Kaj;
    • Vandenberghe, Rik;
    • Scheltens, Philip;
    • Teunissen, Charlotte E.;
    • Engelborghs, Sebastiaan;
    • Frisoni, Giovanni B.;
    • Blin, Oliver;
    • Richardson, Jill C.;
    • Bordet, Régis;
    • Lleó, Alberto;
    • Alcolea, Daniel
    Publication type:
    Article
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