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


Results: 119
    1
    2
    3
    4

    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
    5
    6
    7
    8
    9
    10
    11

    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
    12
    13
    14
    15
    16

    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
    17
    18
    19
    20
    21
    22
    23

    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
    24
    25
    26

    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
    27
    28
    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
    30
    31

    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
    32
    33
    34
    35
    36
    37
    38

    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
    39
    40

    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
    41
    42

    A robust deep learning workflow to predict CD8 + T-cell epitopes.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01225-z
    By:
    • Lee, Chloe H.;
    • Huh, Jaesung;
    • Buckley, Paul R.;
    • Jang, Myeongjun;
    • Pinho, Mariana Pereira;
    • Fernandes, Ricardo A.;
    • Antanaviciute, Agne;
    • Simmons, Alison;
    • Koohy, Hashem
    Publication type:
    Article
    43

    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
    44
    45
    46

    Spatial transcriptomics analysis of neoadjuvant cabozantinib and nivolumab in advanced hepatocellular carcinoma identifies independent mechanisms of resistance and recurrence.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01218-y
    By:
    • Zhang, Shuming;
    • Yuan, Long;
    • Danilova, Ludmila;
    • Mo, Guanglan;
    • Zhu, Qingfeng;
    • Deshpande, Atul;
    • Bell, Alexander T. F.;
    • Elisseeff, Jennifer;
    • Popel, Aleksander S.;
    • Anders, Robert A.;
    • Jaffee, Elizabeth M.;
    • Yarchoan, Mark;
    • Fertig, Elana J.;
    • Kagohara, Luciane T.
    Publication type:
    Article
    47
    48
    49
    50

    The clinical utility of rapid exome sequencing in a consanguineous population.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01192-5
    By:
    • Monies, Dorota;
    • Goljan, Ewa;
    • Rapid Exome Consortium;
    • Binmanee, Abdulaziz Mohammed;
    • Alashwal, Abdullah Ali Zafir;
    • Alsonbul, Abdullah Mohammed;
    • Alhussaini, Abdulrahman A.;
    • Abdallah, Alahmari Ali;
    • Albenmousa, Ali Hussain;
    • Almehaidib, Ali Ibrahim;
    • Hassan, Ali Syed Akhtarul;
    • Alharbi, Amal Salman Alseraihy;
    • Alhabib, Amro;
    • Podda, Antonello;
    • Alsaleem, Badr;
    • Al Saud, Bandar Bin Khalid;
    • Bin Abbas, Bassam Saleh;
    • Faqeih, Eissa Ali;
    • Aljofan, Fahad Badei;
    • Alhazzani, Fahad Naser
    Publication type:
    Article