Works matching IS 14739542 AND DT 2024 AND VI 18 AND IP 1


Results: 129
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    Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.

    Published in:
    2024
    By:
    • Elsayed, Liena Elbaghir Omer;
    • AlHarbi, Norah Ayed;
    • Alqarni, Ashwaq Mohammed;
    • Eltayeb, Huda Hussein Elwasila;
    • Mostafa, Noura Mostafa Mohamed;
    • Abdulrahim, Maha Mohammed;
    • Zaid, Hadeel Ibrahim Bin;
    • Alanzi, Latifah Mansour;
    • Ababtain, Sarah Abdullah;
    • Aldulaijan, Khawlah;
    • Aloyouni, Sheka Yagub;
    • Othman, Moneeb Abdullah Kassem;
    • Alkheilewi, Mohammad Abdullah;
    • Binduraihem, Adel Mohammed;
    • Alrukban, Hadeel Abdollah;
    • Ahmed, Hiba Yousif;
    • AlRadini, Faten Abdullah;
    • Alahdal, Hadil Mohammad;
    • Mushiba, Aziza Mufareh;
    • Alzaher, Omaima Abdulazeem
    Publication type:
    Correction Notice
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    Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.

    Published in:
    Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00684-8
    By:
    • Bonfiglio, Ferdinando;
    • Legati, Andrea;
    • Lasorsa, Vito Alessandro;
    • Palombo, Flavia;
    • De Riso, Giulia;
    • Isidori, Federica;
    • Russo, Silvia;
    • Furini, Simone;
    • Merla, Giuseppe;
    • Coppedè, Fabio;
    • Tartaglia, Marco;
    • Bruselles, Alessandro;
    • Pippucci, Tommaso;
    • Ciolfi, Andrea;
    • Pinelli, Michele;
    • Capasso, Mario
    Publication type:
    Article
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    Fast and accurate DNASeq variant calling workflow composed of LUSH toolkit.

    Published in:
    Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00666-w
    By:
    • Wang, Taifu;
    • Zhang, Youjin;
    • Wang, Haoling;
    • Zheng, Qiwen;
    • Yang, Jiaobo;
    • Zhang, Tiefeng;
    • Sun, Geng;
    • Liu, Weicong;
    • Yin, Longhui;
    • He, Xinqiu;
    • You, Rui;
    • Wang, Chu;
    • Liu, Zhencheng;
    • Liu, Zhijian;
    • Wang, Jin'an;
    • Jin, Xiangqian;
    • He, Zengquan
    Publication type:
    Article
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    The effect of family structure on the still-missing heritability and genomic prediction accuracy of type 2 diabetes.

    Published in:
    Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00669-7
    By:
    • Amiri Roudbar, Mahmoud;
    • Vahedi, Seyed Milad;
    • Jin, Jin;
    • Jahangiri, Mina;
    • Lanjanian, Hossein;
    • Habibi, Danial;
    • Masjoudi, Sajedeh;
    • Riahi, Parisa;
    • Fateh, Sahand Tehrani;
    • Neshati, Farideh;
    • Zahedi, Asiyeh Sadat;
    • Moazzam-Jazi, Maryam;
    • Najd-Hassan-Bonab, Leila;
    • Mousavi, Seyedeh Fatemeh;
    • Asgarian, Sara;
    • Zarkesh, Maryam;
    • Moghaddas, Mohammad Reza;
    • Tenesa, Albert;
    • Kazemnejad, Anoshirvan;
    • Vahidnezhad, Hassan
    Publication type:
    Article
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    Polygenic risk score portability for common diseases across genetically diverse populations.

    Published in:
    Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00664-y
    By:
    • Moreno-Grau, Sonia;
    • Vernekar, Manvi;
    • Lopez-Pineda, Arturo;
    • Mas-Montserrat, Daniel;
    • Barrabés, Míriam;
    • Quinto-Cortés, Consuelo D.;
    • Moatamed, Babak;
    • Lee, Ming Ta Michael;
    • Yu, Zhenning;
    • Numakura, Kensuke;
    • Matsuda, Yuta;
    • Wall, Jeffrey D.;
    • Ioannidis, Alexander G.;
    • Katsanis, Nicholas;
    • Takano, Tomohiro;
    • Bustamante, Carlos D.
    Publication type:
    Article
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