Works matching IS 20567944 AND DT 2019 AND VI 4 AND IP 1


Results: 44
    1
    2

    Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0104-9
    By:
    • Lauhasurayotin, Supanun;
    • Cuvelier, Geoff D.;
    • Klaassen, Robert J.;
    • Fernandez, Conrad V.;
    • Pastore, Yves D.;
    • Abish, Sharon;
    • Rayar, Meera;
    • Steele, MacGregor;
    • Jardine, Lawrence;
    • Breakey, Vicky R.;
    • Brossard, Josee;
    • Sinha, Roona;
    • Silva, Mariana;
    • Goodyear, Lisa;
    • Lipton, Jeffrey H.;
    • Michon, Bruno;
    • Corriveau-Bourque, Catherine;
    • Sung, Lillian;
    • Shabanova, Iren;
    • Li, Hongbing
    Publication type:
    Article
    3

    Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0106-7
    By:
    • Steward, Charles A.;
    • Roovers, Jolien;
    • Suner, Marie-Marthe;
    • Gonzalez, Jose M.;
    • Uszczynska-Ratajczak, Barbara;
    • Pervouchine, Dmitri;
    • Fitzgerald, Stephen;
    • Viola, Margarida;
    • Stamberger, Hannah;
    • Hamdan, Fadi F.;
    • Ceulemans, Berten;
    • Leroy, Patricia;
    • Nava, Caroline;
    • Lepine, Anne;
    • Tapanari, Electra;
    • Keiller, Don;
    • Abbs, Stephen;
    • Sanchis-Juan, Alba;
    • Grozeva, Detelina;
    • Rogers, Anthony S.
    Publication type:
    Article
    4
    5
    6
    7
    8
    9

    Both rare and common genetic variants contribute to autism in the Faroe Islands.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0075-2
    By:
    • Leblond, Claire S;
    • Cliquet, Freddy;
    • Carton, Coralie;
    • Huguet, Guillaume;
    • Mathieu, Alexandre;
    • Kergrohen, Thomas;
    • Buratti, Julien;
    • Lemière, Nathalie;
    • Cuisset, Laurence;
    • Bienvenu, Thierry;
    • Boland, Anne;
    • Deleuze, Jean-François;
    • Stora, Tormodur;
    • Biskupstoe, Rannva;
    • Halling, Jónrit;
    • Andorsdóttir, Guðrið;
    • Billstedt, Eva;
    • Gillberg, Christopher;
    • Bourgeron, Thomas
    Publication type:
    Article
    10
    12
    13

    Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0106-7
    By:
    • Steward, Charles A.;
    • Roovers, Jolien;
    • Suner, Marie-Marthe;
    • Gonzalez, Jose M.;
    • Uszczynska-Ratajczak, Barbara;
    • Pervouchine, Dmitri;
    • Fitzgerald, Stephen;
    • Viola, Margarida;
    • Stamberger, Hannah;
    • Hamdan, Fadi F.;
    • Ceulemans, Berten;
    • Leroy, Patricia;
    • Nava, Caroline;
    • Lepine, Anne;
    • Tapanari, Electra;
    • Keiller, Don;
    • Abbs, Stephen;
    • Sanchis-Juan, Alba;
    • Grozeva, Detelina;
    • Rogers, Anthony S.
    Publication type:
    Article
    14
    15

    Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0079-6
    By:
    • Owaidah, Tarek;
    • Saleh, Mahasen;
    • Baz, Batoul;
    • Abdulaziz, Basma;
    • Alzahrani, Hazza;
    • Tarawah, Ahmed;
    • Almusa, Abdulrahman;
    • AlNounou, Randa;
    • AbaAlkhail, Hala;
    • Al-Numair, Nouf;
    • Altahan, Rahaf;
    • Abouelhoda, Mohammed;
    • Alamoudi, Thamer;
    • Monies, Dorota;
    • Jabaan, Amjad;
    • Al Tassan, Nada
    Publication type:
    Article
    16

    A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0078-7
    By:
    • Safarova, Maya S.;
    • Satterfield, Benjamin A.;
    • Fan, Xiao;
    • Austin, Erin E.;
    • Ye, Zhan;
    • Bastarache, Lisa;
    • Zheng, Neil;
    • Ritchie, Marylyn D.;
    • Borthwick, Kenneth M.;
    • Williams, Marc S.;
    • Larson, Eric B.;
    • Scrol, Aaron;
    • Jarvik, Gail P.;
    • Crosslin, David R.;
    • Leppig, Kathleen;
    • Rasmussen-Torvik, Laura J.;
    • Pendergrass, Sarah A.;
    • Sturm, Amy C.;
    • Namjou, Bahram;
    • Shah, Amy Sanghavi
    Publication type:
    Article
    17
    18
    19
    20

    A large data resource of genomic copy number variation across neurodevelopmental disorders.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0098-3
    By:
    • Zarrei, Mehdi;
    • Burton, Christie L.;
    • Engchuan, Worrawat;
    • Young, Edwin J.;
    • Higginbotham, Edward J.;
    • MacDonald, Jeffrey R.;
    • Trost, Brett;
    • Chan, Ada J. S.;
    • Walker, Susan;
    • Lamoureux, Sylvia;
    • Heung, Tracy;
    • Mojarad, Bahareh A.;
    • Kellam, Barbara;
    • Paton, Tara;
    • Faheem, Muhammad;
    • Miron, Karin;
    • Lu, Chao;
    • Wang, Ting;
    • Samler, Kozue;
    • Wang, Xiaolin
    Publication type:
    Article
    21
    22
    23
    24
    25
    26

    Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0093-8
    By:
    • Feliciano, Pamela;
    • Zhou, Xueya;
    • Astrovskaya, Irina;
    • Turner, Tychele N.;
    • Wang, Tianyun;
    • Brueggeman, Leo;
    • Barnard, Rebecca;
    • Hsieh, Alexander;
    • Snyder, LeeAnne Green;
    • Muzny, Donna M.;
    • Sabo, Aniko;
    • Gibbs, Richard A.;
    • Eichler, Evan E.;
    • O'Roak, Brian J.;
    • Michaelson, Jacob J.;
    • Volfovsky, Natalia;
    • Shen, Yufeng;
    • Chung, Wendy K.
    Publication type:
    Article
    27
    28
    29
    30
    31

    Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0088-5
    By:
    • Keskitalo, Salla;
    • Haapaniemi, Emma M.;
    • Glumoff, Virpi;
    • Liu, Xiaonan;
    • Lehtinen, Ville;
    • Fogarty, Christopher;
    • Rajala, Hanna;
    • Chiang, Samuel C.;
    • Mustjoki, Satu;
    • Kovanen, Panu;
    • Lohi, Jouko;
    • Bryceson, Yenan T.;
    • Seppänen, Mikko;
    • Kere, Juha;
    • Heiskanen, Kaarina;
    • Varjosalo, Markku
    Publication type:
    Article
    32

    Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0091-x
    By:
    • Yu, Mullin Ho-Chung;
    • Tsang, Mandy Ho-Yin;
    • Lai, Sophie;
    • Ho, Matthew Sai-Pong;
    • Tse, Donald M. L.;
    • Willis, Brooke;
    • Kwong, Anna Ka-Yee;
    • Chou, Yen-Yin;
    • Lin, Shuan-Pei;
    • Quinzii, Catarina M;
    • Hwu, Wuh-Liang;
    • Chien, Yin-Hsiu;
    • Kuo, Pao-Lin;
    • Chan, Victor Chi-Man;
    • Tsoi, Cheung;
    • Chong, Shuk-Ching;
    • Rodenburg, Richard J. T.;
    • Smeitink, Jan;
    • Mak, Christopher Chun-Yu;
    • Yeung, Kit-San
    Publication type:
    Article
    33
    34
    35
    36
    37
    38
    39

    Both rare and common genetic variants contribute to autism in the Faroe Islands.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0075-2
    By:
    • Leblond, Claire S;
    • Cliquet, Freddy;
    • Carton, Coralie;
    • Huguet, Guillaume;
    • Mathieu, Alexandre;
    • Kergrohen, Thomas;
    • Buratti, Julien;
    • Lemière, Nathalie;
    • Cuisset, Laurence;
    • Bienvenu, Thierry;
    • Boland, Anne;
    • Deleuze, Jean-François;
    • Stora, Tormodur;
    • Biskupstoe, Rannva;
    • Halling, Jónrit;
    • Andorsdóttir, Guðrið;
    • Billstedt, Eva;
    • Gillberg, Christopher;
    • Bourgeron, Thomas
    Publication type:
    Article
    40

    Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0079-6
    By:
    • Owaidah, Tarek;
    • Saleh, Mahasen;
    • Baz, Batoul;
    • Abdulaziz, Basma;
    • Alzahrani, Hazza;
    • Tarawah, Ahmed;
    • Almusa, Abdulrahman;
    • AlNounou, Randa;
    • AbaAlkhail, Hala;
    • Al-Numair, Nouf;
    • Altahan, Rahaf;
    • Abouelhoda, Mohammed;
    • Alamoudi, Thamer;
    • Monies, Dorota;
    • Jabaan, Amjad;
    • Tassan, Nada Al
    Publication type:
    Article
    41
    42

    A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

    Published in:
    NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0078-7
    By:
    • Safarova, Maya S.;
    • Satterfield, Benjamin A.;
    • Fan, Xiao;
    • Austin, Erin E.;
    • Ye, Zhan;
    • Bastarache, Lisa;
    • Zheng, Neil;
    • Ritchie, Marylyn D.;
    • Borthwick, Kenneth M.;
    • Williams, Marc S.;
    • Larson, Eric B.;
    • Scrol, Aaron;
    • Jarvik, Gail P.;
    • Crosslin, David R.;
    • Leppig, Kathleen;
    • Rasmussen-Torvik, Laura J.;
    • Pendergrass, Sarah A.;
    • Sturm, Amy C.;
    • Namjou, Bahram;
    • Shah, Amy Sanghavi
    Publication type:
    Article
    43