Works matching IS 20567944 AND DT 2023 AND VI 8 AND IP 1

Results: 47
    1
    2

    Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.

    Published in:
    NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00380-x
    By:
    • Jacob, Prince;
    • Lindelöf, Hillevi;
    • Rustad, Cecilie F.;
    • Sutton, Vernon Reid;
    • Moosa, Shahida;
    • Udupa, Prajna;
    • Hammarsjö, Anna;
    • Bhavani, Gandham SriLakshmi;
    • Batkovskyte, Dominyka;
    • Tveten, Kristian;
    • Dalal, Ashwin;
    • Horemuzova, Eva;
    • Nordgren, Ann;
    • Tham, Emma;
    • Shah, Hitesh;
    • Merckoll, Else;
    • Orellana, Laura;
    • Nishimura, Gen;
    • Girisha, Katta M.;
    • Grigelioniene, Giedre
    Publication type:
    Article
    3
    4
    5
    6

    Pan-cancer atlas of somatic core and linker histone mutations.

    Published in:
    NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00367-8
    By:
    • Bonner, Erin R.;
    • Dawood, Adam;
    • Gordish-Dressman, Heather;
    • Eze, Augustine;
    • Bhattacharya, Surajit;
    • Yadavilli, Sridevi;
    • Mueller, Sabine;
    • Waszak, Sebastian M.;
    • Nazarian, Javad
    Publication type:
    Article
    7
    8
    9
    10
    11

    Returning incidentally discovered Hepatitis C RNA-seq results to COPDGene study participants.

    Published in:
    NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00379-4
    By:
    • Silverman, Edwin K.;
    • Kim, Arthur Y.;
    • Make, Barry J.;
    • Regan, Elizabeth A.;
    • Morrow, Jarrett D.;
    • Hersh, Craig P.;
    • O'Brien, James;
    • Crapo, James D.;
    • Hansel, Nadia N.;
    • Criner, Gerard;
    • Flenaugh, Eric L.;
    • Conrad, Douglas;
    • Casaburi, Richard;
    • Bowler, Russell P.;
    • Hanania, Nicola A.;
    • Barr, R. Graham;
    • Bhatt, Surya P.;
    • Sciurba, Frank C.;
    • Anzueto, Antonio;
    • Han, MeiLan K.
    Publication type:
    Article
    12
    13
    14

    Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

    Published in:
    NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00353-0
    By:
    • Slavotinek, Anne;
    • Rego, Shannon;
    • Sahin-Hodoglugil, Nuriye;
    • Kvale, Mark;
    • Lianoglou, Billie;
    • Yip, Tiffany;
    • Hoban, Hannah;
    • Outram, Simon;
    • Anguiano, Beatrice;
    • Chen, Flavia;
    • Michelson, Jeremy;
    • Cilio, Roberta M.;
    • Curry, Cynthia;
    • Gallagher, Renata C.;
    • Gardner, Marisa;
    • Kuperman, Rachel;
    • Mendelsohn, Bryce;
    • Sherr, Elliott;
    • Shieh, Joseph;
    • Strober, Jonathan
    Publication type:
    Article
    15
    16
    17
    18
    19
    20

    SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy.

    Published in:
    NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00370-z
    By:
    • Roshandel, Delnaz;
    • Sanders, Eric J.;
    • Shakeshaft, Amy;
    • Panjwani, Naim;
    • Lin, Fan;
    • Collingwood, Amber;
    • Hall, Anna;
    • Keenan, Katherine;
    • Deneubourg, Celine;
    • Mirabella, Filippo;
    • Topp, Simon;
    • Zarubova, Jana;
    • Thomas, Rhys H.;
    • Talvik, Inga;
    • Syvertsen, Marte;
    • Striano, Pasquale;
    • Smith, Anna B.;
    • Selmer, Kaja K.;
    • Rubboli, Guido;
    • Orsini, Alessandro
    Publication type:
    Article
    21
    22
    23
    24
    25

    Pan-cancer atlas of somatic core and linker histone mutations.

    Published in:
    NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00367-8
    By:
    • Bonner, Erin R.;
    • Dawood, Adam;
    • Gordish-Dressman, Heather;
    • Eze, Augustine;
    • Bhattacharya, Surajit;
    • Yadavilli, Sridevi;
    • Mueller, Sabine;
    • Waszak, Sebastian M.;
    • Nazarian, Javad
    Publication type:
    Article
    26
    27
    28
    29
    30
    31

    Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.

    Published in:
    NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00363-y
    By:
    • Zhao, Yingjie;
    • Wang, Yujue;
    • Shi, Lijie;
    • McDonald-McGinn, Donna M.;
    • Crowley, T. Blaine;
    • McGinn, Daniel E.;
    • Tran, Oanh T.;
    • Miller, Daniella;
    • Lin, Jhih-Rong;
    • Zackai, Elaine;
    • Johnston, H. Richard;
    • Chow, Eva W. C.;
    • Vorstman, Jacob A. S.;
    • Vingerhoets, Claudia;
    • van Amelsvoort, Therese;
    • Gothelf, Doron;
    • Swillen, Ann;
    • Breckpot, Jeroen;
    • Vermeesch, Joris R.;
    • Eliez, Stephan
    Publication type:
    Article
    32
    33
    34
    35
    36
    37
    38

    Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

    Published in:
    NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00353-0
    By:
    • Slavotinek, Anne;
    • Rego, Shannon;
    • Sahin-Hodoglugil, Nuriye;
    • Kvale, Mark;
    • Lianoglou, Billie;
    • Yip, Tiffany;
    • Hoban, Hannah;
    • Outram, Simon;
    • Anguiano, Beatrice;
    • Chen, Flavia;
    • Michelson, Jeremy;
    • Cilio, Roberta M.;
    • Curry, Cynthia;
    • Gallagher, Renata C.;
    • Gardner, Marisa;
    • Kuperman, Rachel;
    • Mendelsohn, Bryce;
    • Sherr, Elliott;
    • Shieh, Joseph;
    • Strober, Jonathan
    Publication type:
    Article
    39

    Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.

    Published in:
    2023
    By:
    • Giannuzzi, Giuliana;
    • Chatron, Nicolas;
    • Mannik, Katrin;
    • Auwerx, Chiara;
    • Pradervand, Sylvain;
    • Willemin, Gilles;
    • Hoekzema, Kendra;
    • Nuttle, Xander;
    • Chrast, Jacqueline;
    • Sadler, Marie C.;
    • Porcu, Eleonora;
    • Männik, Katrin;
    • Sanlaville, Damien;
    • Schluth-Bolard, Caroline;
    • Le Caignec, Cédric;
    • Nizon, Mathilde;
    • Martin, Sandra;
    • Jacquemont, Sébastien;
    • Bottani, Armand;
    • Gérard, Marion
    Publication type:
    Correction Notice
    40

    Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

    Published in:
    NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00352-1
    By:
    • Schlottmann, Patricio G.;
    • Luna, José D.;
    • Labat, Natalia;
    • Yadarola, María Belén;
    • Bainttein, Silvina;
    • Esposito, Evangelina;
    • Ibañez, Agustina;
    • Barbaro, Evangelina Ivón;
    • Álvarez Mendiara, Alejandro;
    • Picotti, Carolina P.;
    • Chirino Misisian, Andrea;
    • Andreussi, Luciana;
    • Gras, Julieta;
    • Capalbo, Luciana;
    • Visotto, Mauro;
    • Dipierri, José E.;
    • Alcoba, Emilio;
    • Fernández Gabrielli, Laura;
    • Ávila, Silvia;
    • Aucar, María Emilia
    Publication type:
    Article
    41
    42
    43

    Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.

    Published in:
    NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00349-w
    By:
    • Ding, Yan;
    • Owen, Mallory;
    • Le, Jennie;
    • Batalov, Sergey;
    • Chau, Kevin;
    • Kwon, Yong Hyun;
    • Van Der Kraan, Lucita;
    • Bezares-Orin, Zaira;
    • Zhu, Zhanyang;
    • Veeraraghavan, Narayanan;
    • Nahas, Shareef;
    • Bainbridge, Matthew;
    • Gleeson, Joe;
    • Baer, Rebecca J.;
    • Bandoli, Gretchen;
    • Chambers, Christina;
    • Kingsmore, Stephen F.
    Publication type:
    Article
    44

    Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.

    Published in:
    NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-022-00343-8
    By:
    • Morimoto, Marie;
    • Bhambhani, Vikas;
    • Gazzaz, Nour;
    • Davids, Mariska;
    • Sathiyaseelan, Paalini;
    • Macnamara, Ellen F.;
    • Lange, Jennifer;
    • Lehman, Anna;
    • Zerfas, Patricia M.;
    • Murphy, Jennifer L.;
    • Acosta, Maria T.;
    • Wang, Camille;
    • Alderman, Emily;
    • Undiagnosed Diseases Network;
    • Adam, Margaret;
    • Alvarez, Raquel L.;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley;
    • Ashley, Euan A.
    Publication type:
    Article
    45

    Cross center single-cell RNA sequencing study of the immune microenvironment in rapid progressing multiple myeloma.

    Published in:
    NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-022-00340-x
    By:
    • Pilcher, William;
    • Thomas, Beena E.;
    • Bhasin, Swati S.;
    • Jayasinghe, Reyka G.;
    • Yao, Lijun;
    • Gonzalez-Kozlova, Edgar;
    • Dasari, Surendra;
    • Kim-Schulze, Seunghee;
    • Rahman, Adeeb;
    • Patton, Jonathan;
    • Fiala, Mark;
    • Cheloni, Giulia;
    • Kourelis, Taxiarchis;
    • Dhodapkar, Madhav V.;
    • Vij, Ravi;
    • Mehr, Shaadi;
    • Hamilton, Mark;
    • Cho, Hearn Jay;
    • Auclair, Daniel;
    • Avigan, David E.
    Publication type:
    Article
    46
    47