Works matching AU Muzny, Donna M.

Results: 100
    1

    Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 2033, doi. 10.1002/humu.24461
    By:
    • Chander, Varuna;
    • Mahmoud, Medhat;
    • Hu, Jianhong;
    • Dardas, Zain;
    • Grochowski, Christopher M.;
    • Dawood, Moez;
    • Khayat, Michael M.;
    • Li, He;
    • Li, Shoudong;
    • Jhangiani, Shalini;
    • Korchina, Viktoriya;
    • Shen, Hua;
    • Weissenberger, George;
    • Meng, Qingchang;
    • Gingras, Marie‐Claude;
    • Muzny, Donna M.;
    • Doddapaneni, Harsha;
    • Posey, Jennifer E.;
    • Lupski, James R.;
    • Sabo, Aniko
    Publication type:
    Article
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    Phenotypic expansion in DDX3X – a common cause of intellectual disability in females.

    Published in:
    Annals of Clinical & Translational Neurology, 2018, v. 5, n. 10, p. 1277, doi. 10.1002/acn3.622
    By:
    • Posey, Jennifer E.;
    • Rosenfeld, Jill A.;
    • Jiang, Yunyun;
    • Darilek, Sandra A.;
    • Hansen, Adam W.;
    • Khayat, Michael M.;
    • Hanchard, Neil;
    • Belmont, John W.;
    • Eldomery, Mohammad K.;
    • Akdemir, Zeynep C.;
    • Chen, Shan;
    • Lee, Yi‐Chien;
    • Lee, Brendan;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Moretti, Paolo;
    • Wang, Xia;
    • Leduc, Magalie S.;
    • Walkiewicz, Magdalena A.;
    • Bi, Weimin
    Publication type:
    Article
    6

    Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly.

    Published in:
    JAMA Neurology, 2013, v. 70, n. 12, p. 1491, doi. 10.1001/jamaneurol.2013.4598
    By:
    • Gonzaga-Jauregui, Claudia;
    • Lotze, Timothy;
    • Jamal, Leila;
    • Penney, Samantha;
    • Campbell, Ian M.;
    • Pehlivan, Davut;
    • Hunter, Jill V.;
    • Woodbury, Suzanne L.;
    • Raymond, Gerald;
    • Adesina, Adekunle M.;
    • Jhangiani, Shalini N.;
    • Reid, Jeffrey G.;
    • Muzny, Donna M.;
    • Boerwinkle, Eric;
    • Lupski, James R.;
    • Gibbs, Richard A.;
    • Wiszniewski, Wojciech
    Publication type:
    Article
    7
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    Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.

    Published in:
    BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0208-3
    By:
    • Wu-Lin Charng;
    • Karaca, Ender;
    • Coban Akdemir, Zeynep;
    • Gambin, Tomasz;
    • Atik, Mehmed M.;
    • Shen Gu;
    • Posey, Jennifer E.;
    • Jhangiani, Shalini N.;
    • Muzny, Donna M.;
    • Doddapaneni, Harsha;
    • Jianhong Hu;
    • Boerwinkle, Eric;
    • Gibbs, Richard A.;
    • Rosenfeld, Jill A.;
    • Hong Cui;
    • Fan Xia;
    • Manickam, Kandamurugu;
    • Yaping Yang;
    • Faqeih, Eissa A.;
    • Al Asmari, Ali
    Publication type:
    Article
    9

    Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.

    Published in:
    Nature Medicine, 2012, v. 18, n. 9, p. 1423, doi. 10.1038/nm.2860
    By:
    • McIntyre, Jeremy C;
    • Davis, Erica E;
    • Joiner, Ariell;
    • Williams, Corey L;
    • Tsai, I-Chun;
    • Jenkins, Paul M;
    • McEwen, Dyke P;
    • Zhang, Lian;
    • Escobado, John;
    • Thomas, Sophie;
    • Szymanska, Katarzyna;
    • Johnson, Colin A;
    • Beales, Philip L;
    • Green, Eric D;
    • Mullikin, James C;
    • Program, NISC Comparative Sequencing;
    • Sabo, Aniko;
    • Muzny, Donna M;
    • Gibbs, Richard A;
    • Attié-Bitach, Tania
    Publication type:
    Article
    10

    COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.

    Published in:
    Nature Genetics, 2015, v. 47, n. 6, p. 654, doi. 10.1038/ng.3279
    By:
    • Watkin, Levi B;
    • Forbes, Lisa R;
    • Mace, Emily M;
    • Liu, Dongfang;
    • Nicholas, Sarah K;
    • Nahmod, Karen;
    • Makedonas, George;
    • Canter, Debra L;
    • Orange, Jordan S;
    • Hicks, John;
    • Jones, Kirk D;
    • Jhangiani, Shalini N;
    • Muzny, Donna M;
    • Rosenblum, Michael D;
    • Dell, Sharon D;
    • Waterfield, Michael R;
    • Boerwinkle, Eric;
    • Gibbs, Richard A;
    • Lupski, James R;
    • Shum, Anthony K
    Publication type:
    Article
    11

    Convergent evolution of the genomes of marine mammals.

    Published in:
    Nature Genetics, 2015, v. 47, n. 3, p. 272, doi. 10.1038/ng.3198
    By:
    • Foote, Andrew D;
    • Nielsen, Rasmus;
    • Raney, Brian J;
    • Vijay, Nagarjun;
    • Wolf, Jochen B W;
    • Hahn, Matthew W;
    • Gilbert, M Thomas P;
    • Liu, Yue;
    • Deng, Jixin;
    • Dugan, Shannon;
    • Joshi, Vandita;
    • Khan, Ziad;
    • Kovar, Christie;
    • Lee, Sandra L;
    • Qin, Xiang;
    • Qu, Jiaxin;
    • Muzny, Donna M;
    • Worley, Kim C;
    • Gibbs, Richard A;
    • Thomas, Gregg W C
    Publication type:
    Article
    12
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    TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

    Published in:
    Nature Genetics, 2011, v. 43, n. 3, p. 189, doi. 10.1038/ng.756
    By:
    • Davis, Erica E.;
    • Qi Zhang;
    • Qin Liu;
    • Diplas, Bill H.;
    • Davey, Lisa M.;
    • Hartley, Jane;
    • Stoetzel, Corinne;
    • Szymanska, Katarzyna;
    • Ramaswami, Gokul;
    • Logan, Clare V.;
    • Muzny, Donna M.;
    • Young, Alice C.;
    • Wheeler, David A.;
    • Cruz, Pedro;
    • Morgan, Margaret;
    • Lewis, Lora R.;
    • Cherukuri, Praveen;
    • Maskeri, Baishali;
    • Hansen, Nancy F.;
    • Mullikin, James C.
    Publication type:
    Article
    14

    A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

    Published in:
    Nature Genetics, 2009, v. 41, n. 6, p. 739, doi. 10.1038/ng.366
    By:
    • Khanna, Hemant;
    • Davis, Erica E.;
    • Murga-Zamalloa, Carlos A.;
    • Estrada-Cuzcano, Alejandro;
    • Lopez, Irma;
    • den Hollander, Anneke I.;
    • Zonneveld, Marijke N.;
    • Othman, Mohammad I.;
    • Waseem, Naushin;
    • Chakarova, Christina F.;
    • Maubaret, Cecilia;
    • Diaz-Font, Anna;
    • MacDonald, Ian;
    • Muzny, Donna M;
    • Wheeler, David A.;
    • Morgan, Margaret;
    • Lewis, Lora R.;
    • Logan, Clare V.;
    • Tan, Perciliz L.;
    • Beer, Michael A.
    Publication type:
    Article
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    Complete Genome Sequence of Treponema paraluiscuniculi, Strain Cuniculi A: The Loss of Infectivity to Humans Is Associated with Genome Decay.

    Published in:
    PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0020415
    By:
    • Šmajs, David;
    • Zobaníková, Marie;
    • Strouhal, Michal;
    • Čejková, Darina;
    • Dugan-Rocha, Shannon;
    • Pospíšilová, Petra;
    • Norris, Steven J.;
    • Albert, Tom;
    • Qin, Xiang;
    • Hallsworth-Pepin, Kym;
    • Buhay, Christian;
    • Muzny, Donna M.;
    • Chen, Lei;
    • Gibbs, Richard A.;
    • Weinstock, George M.
    Publication type:
    Article
    19

    Comparative Genomics of Gardnerella vaginalis Strains Reveals Substantial Differences in Metabolic and Virulence Potential.

    Published in:
    PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012411
    By:
    • Yeoman, Carl J.;
    • Yildirim, Suleyman;
    • Thomas, Susan M.;
    • Durkin, A. Scott;
    • Torralba, Manolito;
    • Sutton, Granger;
    • Buhay, Christian J.;
    • Ding, Yan;
    • Dugan-Rocha, Shannon P.;
    • Muzny, Donna M.;
    • Xiang Qin;
    • Gibbs, Richard A.;
    • Leigh, Steven R.;
    • Stumpf, Rebecca;
    • White, Bryan A.;
    • Highlander, Sarah K.;
    • Nelson, Karen E.;
    • Wilson, Brenda A.
    Publication type:
    Article
    20
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    Complete genome sequence of Enterococcus faecium strain TX16 and comparative genomic analysis of Enterococcus faecium genomes.

    Published in:
    BMC Microbiology, 2012, v. 12, n. 1, p. 135, doi. 10.1186/1471-2180-12-135
    By:
    • Xiang Qin;
    • Galloway-Pe�a, Jessica R.;
    • Sillanpaa, Jouko;
    • Hyeob Roh, Jung;
    • Nallapareddy, Sreedhar R.;
    • Chowdhury, Shahreen;
    • Bourgogne, Agathe;
    • Choudhury, Tina;
    • Muzny, Donna M.;
    • Buhay, Christian J.;
    • Yan Ding;
    • Dugan-Rocha, Shannon;
    • Wen Liu;
    • Kovar, Christie;
    • Sodergren, Erica;
    • Highlander, Sarah;
    • Petrosino, Joseph F.;
    • Worley, Kim C.;
    • Gibbs, Richard A.;
    • Weinstock, George M.
    Publication type:
    Article
    22

    Subtle genetic changes enhance virulence of methicillin resistantand sensitive Staphylococcus aureus.

    Published in:
    BMC Microbiology, 2007, v. 7, p. 99, doi. 10.1186/1471-2180-7-99
    By:
    • Highlander, Sarah K.;
    • Hultén, Kristina G.;
    • Xiang Qin;
    • Huaiyang Jiang;
    • Yerrapragada, Shailaja;
    • Mason Jr., Edward O.;
    • Yue Shang;
    • Williams, Tiffany M.;
    • Fortunov, Régine M.;
    • Yamei Liu;
    • Igboeli, Okezie;
    • Petrosino, Joseph;
    • Tirumalai, Madhan;
    • Uzman, Akif;
    • Fox, George E.;
    • Cardenas, Ana Maria;
    • Muzny, Donna M.;
    • Hemphill, Lisa;
    • Yan Ding;
    • Dugan, Shannon
    Publication type:
    Article
    23

    Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.

    Published in:
    Pediatric Diabetes, 2014, v. 15, n. 3, p. 252, doi. 10.1111/pedi.12086
    By:
    • Shalev, Stavit A;
    • Tenenbaum‐Rakover, Yardena;
    • Horovitz, Yoseph;
    • Paz, Veronica P;
    • Ye, Honggang;
    • Carmody, David;
    • Highland, Heather M;
    • Boerwinkle, Eric;
    • Hanis, Craig L;
    • Muzny, Donna M;
    • Gibbs, Richard A;
    • Bell, Graeme I;
    • Philipson, Louis H;
    • Greeley, Siri Atma W
    Publication type:
    Article
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    Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing.

    Published in:
    JAMA: Journal of the American Medical Association, 2014, v. 312, n. 18, p. 1869, doi. 10.1001/jama.2014.14601
    By:
    • Yaping Yang;
    • Muzny, Donna M.;
    • Fan Xia;
    • Zhiyv Niu;
    • Person, Richard;
    • Yan Ding;
    • Ward, Patricia;
    • Braxton, Alicia;
    • Min Wang;
    • Buhay, Christian;
    • Veeraraghavan, Narayanan;
    • Hawes, Alicia;
    • Chiang, Theodore;
    • Leduc, Magalie;
    • Beuten, Joke;
    • Jing Zhang;
    • Weimin He;
    • Scull, Jennifer;
    • Willis, Alecia;
    • Landsverk, Megan
    Publication type:
    Article
    27

    Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0633-y
    By:
    • Carvalho, Claudia M. B.;
    • Coban-Akdemir, Zeynep;
    • Hijazi, Hadia;
    • Yuan, Bo;
    • Pendleton, Matthew;
    • Harrington, Eoghan;
    • Beaulaurier, John;
    • Juul, Sissel;
    • Turner, Daniel J.;
    • Kanchi, Rupa S.;
    • Jhangiani, Shalini N.;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Stankiewicz, Pawel;
    • Belmont, John W.;
    • Shaw, Chad A.;
    • Cheung, Sau Wai;
    • Hanchard, Neil A.;
    • Sutton, V. Reid;
    • Bader, Patricia I.
    Publication type:
    Article
    28

    Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. 1, doi. 10.1186/s13073-018-0582-x
    By:
    • Normand, Elizabeth A.;
    • Braxton, Alicia;
    • Nassef, Salma;
    • Ward, Patricia A.;
    • Vetrini, Francesco;
    • He, Weimin;
    • Patel, Vipulkumar;
    • Qu, Chunjing;
    • Westerfield, Lauren E.;
    • Stover, Samantha;
    • Dharmadhikari, Avinash V.;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Dai, Hongzheng;
    • Meng, Linyan;
    • Wang, Xia;
    • Xiao, Rui;
    • Liu, Pengfei;
    • Bi, Weimin;
    • Xia, Fan
    Publication type:
    Article
    29

    Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3593, doi. 10.1002/ajmg.a.61908
    By:
    • Zhang, Chaofan;
    • Mazzeu, Juliana F.;
    • Eisfeldt, Jesper;
    • Grochowski, Christopher M.;
    • White, Janson;
    • Akdemir, Zeynep C.;
    • Jhangiani, Shalini N.;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Lindstrand, Anna;
    • Lupski, James R.;
    • Sutton, V. Reid;
    • Carvalho, Claudia M. B.
    Publication type:
    Article
    30

    Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1387, doi. 10.1002/ajmg.a.61571
    By:
    • Coban‐Akdemir, Zeynep H.;
    • Charng, Wu‐Lin;
    • Azamian, Mahshid;
    • Paine, Ingrid S.;
    • Punetha, Jaya;
    • Grochowski, Christopher M.;
    • Gambin, Tomasz;
    • Valdes, Santiago O.;
    • Cannon, Bryan;
    • Zapata, Gladys;
    • Hernandez, Patricia P.;
    • Jhangiani, Shalini;
    • Doddapaneni, Harsha;
    • Hu, Jianhong;
    • Boricha, Fatima;
    • Muzny, Donna M.;
    • Boerwinkle, Eric;
    • Yang, Yaping;
    • Gibbs, Richard A.;
    • Posey, Jennifer E.
    Publication type:
    Article
    31

    A biallelic <italic>ANTXR1</italic> variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1015, doi. 10.1002/ajmg.a.38625
    By:
    • Dinckan, Nuriye;
    • Du, Renqian;
    • Akdemir, Zeynep C.;
    • Bayram, Yavuz;
    • Jhangiani, Shalini N.;
    • Doddapaneni, Harsha;
    • Hu, Jianhong;
    • Muzny, Donna M.;
    • Guven, Yeliz;
    • Aktoren, Oya;
    • Kayserili, Hulya;
    • Boerwinkle, Eric;
    • Gibbs, Richard A.;
    • Posey, Jennifer E.;
    • Lupski, James R.;
    • Uyguner, Zehra O.;
    • Letra, Ariadne
    Publication type:
    Article
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    Sheep genome functional annotation reveals proximal regulatory elements contributed to the evolution of modern breeds.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02809-1
    By:
    • Naval-Sanchez, Marina;
    • Nguyen, Quan;
    • McWilliam, Sean;
    • Porto-Neto, Laercio R.;
    • Tellam, Ross;
    • Vuocolo, Tony;
    • Reverter, Antonio;
    • Perez-Enciso, Miguel;
    • Brauning, Rudiger;
    • Clarke, Shannon;
    • McCulloch, Alan;
    • Zamani, Wahid;
    • Naderi, Saeid;
    • Rezaei, Hamid Reza;
    • Pompanon, Francois;
    • Taberlet, Pierre;
    • Worley, Kim C.;
    • Gibbs, Richard A.;
    • Muzny, Donna M.;
    • Jhangiani, Shalini N.
    Publication type:
    Article
    36
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    Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 43, doi. 10.1186/1750-1172-9-43
    By:
    • Sim, Joe C. H.;
    • White, Susan M.;
    • Fitzpatrick, Elizabeth;
    • Wilson, Gabrielle R.;
    • Gillies, Greta;
    • Pope, Kate;
    • Mountford, Hayley S.;
    • Torring, Pernille M.;
    • McKee, Shane;
    • Vulto-van Silfhout, Anneke T.;
    • Jhangiani, Shalini N.;
    • Muzny, Donna M.;
    • Leventer, Richard J.;
    • Delatycki, Martin B.;
    • Amor, David J.;
    • Lockhart, Paul J.
    Publication type:
    Article
    38
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    Clinical and molecular features of pediatric cancer patients with Lynch syndrome.

    Published in:
    Pediatric Blood & Cancer, 2022, v. 69, n. 11, p. 1, doi. 10.1002/pbc.29859
    By:
    • Scollon, Sarah;
    • Eldomery, Mohammad K.;
    • Reuther, Jacquelyn;
    • Lin, Frank Y.;
    • Potter, Samara L.;
    • Desrosiers, Lauren;
    • McClain, Kenneth L.;
    • Smith, Valeria;
    • Su, Jack Meng‐Fen;
    • Venkatramani, Rajkumar;
    • Hu, Jianhong;
    • Korchina, Viktoriya;
    • Zarrin‐Khameh, Neda;
    • Gibbs, Richard A.;
    • Muzny, Donna M.;
    • Eng, Christine;
    • Roy, Angshumoy;
    • Parsons, D. Williams;
    • Plon, Sharon E.
    Publication type:
    Article
    40

    MHC genotyping from rhesus macaque exome sequences.

    Published in:
    Immunogenetics, 2019, v. 71, n. 8/9, p. 531, doi. 10.1007/s00251-019-01125-w
    By:
    • Caskey, John R.;
    • Wiseman, Roger W.;
    • Karl, Julie A.;
    • Baker, David A.;
    • Lee, Taylor;
    • Maddox, Robert J.;
    • Raveendran, Muthuswamy;
    • Harris, R. Alan;
    • Hu, Jianhong;
    • Muzny, Donna M.;
    • Rogers, Jeffrey;
    • O'Connor, David H.
    Publication type:
    Article
    41

    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
    42

    A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.

    Published in:
    Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 6, p. 604, doi. 10.1002/mgg3.237
    By:
    • Sorte, Hanne S.;
    • Osnes, Liv T.;
    • Fevang, Børre;
    • Aukrust, Pål;
    • Erichsen, Hans C.;
    • Backe, Paul H.;
    • Abrahamsen, Tore G.;
    • Kittang, Ole B.;
    • Øverland, Torstein;
    • Jhangiani, Shalini N.;
    • Muzny, Donna M.;
    • Vigeland, Magnus D.;
    • Samarakoon, Pubudu;
    • Gambin, Tomasz;
    • Akdemir, Zeynep H. C.;
    • Gibbs, Richard A.;
    • Rødningen, Olaug K.;
    • Lyle, Robert;
    • Lupski, James R.;
    • Stray ‐ Pedersen, Asbjørg
    Publication type:
    Article
    43

    Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.

    Published in:
    Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 1, p. 77, doi. 10.1002/mgg3.181
    By:
    • Boone, Philip M.;
    • Yuan, Bo;
    • Gu, Shen;
    • Ma, Zhiwei;
    • Gambin, Tomasz;
    • Gonzaga‐Jauregui, Claudia;
    • Jain, Mahim;
    • Murdock, Todd J.;
    • White, Janson J.;
    • Jhangiani, Shalini N.;
    • Walker, Kimberly;
    • Wang, Qiaoyan;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Hejtmancik, J. Fielding;
    • Lupski, James R.;
    • Posey, Jennifer E.;
    • Lewis, Richard A.
    Publication type:
    Article
    44

    PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-19637-5
    By:
    • Monroe, Tanner O.;
    • Garrett, Melanie E.;
    • Kousi, Maria;
    • Rodriguiz, Ramona M.;
    • Moon, Sungjin;
    • Bai, Yushi;
    • Brodar, Steven C.;
    • Soldano, Karen L.;
    • Savage, Jeremiah;
    • Hansen, Thomas F.;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Barak, Lawrence;
    • Sullivan, Patrick F.;
    • Ashley-Koch, Allison E.;
    • Sawa, Akira;
    • Wetsel, William C.;
    • Werge, Thomas;
    • Katsanis, Nicholas
    Publication type:
    Article
    45
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    Human NK cell deficiency as a result of biallelic mutations in MCM10.

    Published in:
    2020
    By:
    • Mace, Emily M;
    • Paust, Silke;
    • Conte, Matilde I;
    • Baxley, Ryan M;
    • Schmit, Megan M;
    • Patil, Sagar L;
    • Guilz, Nicole C;
    • Mukherjee, Malini;
    • Pezzi, Ashley E;
    • Chmielowiec, Jolanta;
    • Tatineni, Swetha;
    • Chinn, Ivan K;
    • Akdemir, Zeynep Coban;
    • Jhangiani, Shalini N;
    • Muzny, Donna M;
    • Stray-Pedersen, Asbjørg;
    • Bradley, Rachel E;
    • Moody, Mo;
    • Connor, Philip P;
    • Heaps, Adrian G
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    49

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    • Kostiuk, Valentyna;
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    • Pezzi, Ashley E.;
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    • LuQuing Xu, Mina;
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    • Jhangiani, Shalini N.;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Lupski, James R.;
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    50

    Biallelic mutations in IRF8 impair human NK cell maturation and function.

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    By:
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    • Smith, Jansen B.;
    • Hernández-Sanabria, Mayra;
    • Le, Duy T.;
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    • Cao, Tram N.
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