Found: 16

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  • Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.

    Published in:
    2020
    By:
    • Saad, Ahmed K;
    • Marafi, Dana;
    • Mitani, Tadahiro;
    • Jolly, Angad;
    • Du, Haowei;
    • Elbendary, Hasnaa M;
    • Jhangiani, Shalini N;
    • Akdemir, Zeynep C;
    • Genomics, Baylor-Hopkins Center for Mendelian;
    • Gibbs, Richard A;
    • Hunter, Jill V;
    • Carvalho, Claudia M B C;
    • Pehlivan, Davut;
    • Posey, Jennifer E;
    • Zaki, Maha S;
    • Lupski, James R;
    • Baylor-Hopkins Center for Mendelian Genomics
    Publication type:
    Letter

  • Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.

    Published in:
    Nucleic Acids Research, 2017, v. 45, n. 4, p. 1633, doi. 10.1093/nar/gkw1237
    By:
    • Gambin, Tomasz;
    • Akdemir, Zeynep C.;
    • Bo Yuan;
    • Shen Gu;
    • Chiang, Theodore;
    • Carvalho, Claudia M. B.;
    • Shaw, Chad;
    • Jhangiani, Shalini;
    • Boone, Philip M.;
    • Eldomery, Mohammad K.;
    • Karaca, Ender;
    • Bayram, Yavuz;
    • Stray-Pedersen, Asbjørg;
    • Muzny, Donna;
    • Wu-Lin Charng;
    • Bahrambeigi, Vahid;
    • Belmont, John W.;
    • Boerwinkle, Eric;
    • Beaudet, Arthur L.;
    • Gibbs, Richard A.
    Publication type:
    Article

  • 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

  • A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 1972, doi. 10.1002/ajmg.a.62192
    By:
    • Duan, Ruizhi;
    • Saadi, Nebal Waill;
    • Grochowski, Christopher M.;
    • Bhadila, Ghalia;
    • Faridoun, Afnan;
    • Mitani, Tadahiro;
    • Du, Haowei;
    • Fatih, Jawid M.;
    • Jhangiani, Shalini N.;
    • Akdemir, Zeynep C.;
    • Gibbs, Richard A.;
    • Pehlivan, Davut;
    • Posey, Jennifer E.;
    • Marafi, Dana;
    • Lupski, James R.
    Publication type:
    Article

  • 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

  • Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2451, doi. 10.1002/ajmg.a.38315
    By:
    • Jehee, Fernanda S.;
    • de Oliveira, Valdirene T.;
    • Gurgel‐Giannetti, Juliana;
    • Pietra, Rafaella X.;
    • Rubatino, Fernando V. M.;
    • Carobin, Natália V.;
    • Vianna, Gabrielle S.;
    • de Freitas, Mariana L.;
    • Fernandes, Karla S.;
    • Ribeiro, Beatriz S. V.;
    • Brüggenwirth, Hennie T.;
    • Ali‐Amin, Roza;
    • White, Janson J.;
    • Akdemir, Zeynep C.;
    • Jhangiani, Shalini N.;
    • Gibbs, Richard A.;
    • Lupski, James R.;
    • Varela, Monica C.;
    • Koiffmann, Célia;
    • Rosenberg, Carla
    Publication type:
    Article

  • Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2795, doi. 10.1002/ajmg.a.37263
    By:
    • Karaca, Ender;
    • Yuregir, Ozge O.;
    • Bozdogan, Sevcan T.;
    • Aslan, Huseyin;
    • Pehlivan, Davut;
    • Jhangiani, Shalini N.;
    • Akdemir, Zeynep C.;
    • Gambin, Tomasz;
    • Bayram, Yavuz;
    • Atik, Mehmed M.;
    • Erdin, Serkan;
    • Muzny, Donna;
    • Gibbs, Richard A.;
    • Lupski, James R.
    Publication type:
    Article

  • Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 610, doi. 10.1002/acn3.51003
    By:
    • Marafi, Dana;
    • Mitani, Tadahiro;
    • Isikay, Sedat;
    • Hertecant, Jozef;
    • Almannai, Mohammed;
    • Manickam, Kandamurugu;
    • Abou Jamra, Rami;
    • El‐Hattab, Ayman W.;
    • Rajah, Jaishen;
    • Fatih, Jawid M.;
    • Du, Haowei;
    • Karaca, Ender;
    • Bayram, Yavuz;
    • Punetha, Jaya;
    • Rosenfeld, Jill A.;
    • Jhangiani, Shalini N.;
    • Boerwinkle, Eric;
    • Akdemir, Zeynep C.;
    • Erdin, Serkan;
    • Hunter, Jill V.
    Publication type:
    Article

  • Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1395, doi. 10.1002/acn3.50824
    By:
    • Punetha, Jaya;
    • Karaca, Ender;
    • Gezdirici, Alper;
    • Lamont, Ryan E.;
    • Pehlivan, Davut;
    • Marafi, Dana;
    • Appendino, Juan P.;
    • Hunter, Jill V.;
    • Akdemir, Zeynep C.;
    • Fatih, Jawid M.;
    • Jhangiani, Shalini N.;
    • Gibbs, Richard A.;
    • Innes, A. Micheil;
    • Posey, Jennifer E.;
    • Lupski, James R.
    Publication type:
    Article

  • 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

  • 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

  • Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 11, p. 1913, doi. 10.1093/hmg/ddy098
    By:
    • Anlu Chen;
    • Dov Tiosano;
    • Tulay Guran;
    • Baris, Hagit N.;
    • Bayram, Yavuz;
    • Mory, Adi;
    • Shapiro-Kulnane, Laura;
    • Hodges, Craig A.;
    • Akdemir, Zeynep C.;
    • Turan, Serap;
    • Jhangiani, Shalini N.;
    • van den Akker, Focco;
    • Hoppel, Charles L.;
    • Salz, Helen K.;
    • Lupski, James R.;
    • Buchner, David A.
    Publication type:
    Article

  • Front Cover, Volume 41, Issue 1.

    Published in:
    Human Mutation, 2020, v. 41, n. 1, p. i, doi. 10.1002/humu.23966
    By:
    • Chen, Weisheng;
    • Lin, Jiachen;
    • Wang, Lianlei;
    • Li, Xiaoxin;
    • Zhao, Sen;
    • Liu, Jiaqi;
    • Akdemir, Zeynep C.;
    • Zhao, Yanxue;
    • Du, Renqian;
    • Ye, Yongyu;
    • Song, Xiaofei;
    • Zhang, Yuanqiang;
    • Yan, Zihui;
    • Yang, Xinzhuang;
    • Lin, Mao;
    • Shen, Jianxiong;
    • Wang, Shengru;
    • Gao, Na;
    • Yang, Ying;
    • Liu, Ying
    Publication type:
    Article

  • TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease.

    Published in:
    Human Mutation, 2020, v. 41, n. 1, p. 182, doi. 10.1002/humu.23907
    By:
    • Chen, Weisheng;
    • Lin, Jiachen;
    • Wang, Lianlei;
    • Li, Xiaoxin;
    • Zhao, Sen;
    • Liu, Jiaqi;
    • Akdemir, Zeynep C.;
    • Zhao, Yanxue;
    • Du, Renqian;
    • Ye, Yongyu;
    • Song, Xiaofei;
    • Zhang, Yuanqiang;
    • Yan, Zihui;
    • Yang, Xinzhuang;
    • Lin, Mao;
    • Shen, Jianxiong;
    • Wang, Shengru;
    • Gao, Na;
    • Yang, Ying;
    • Liu, Ying
    Publication type:
    Article

  • Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS).

    Published in:
    JBMR Plus, 2020, v. 4, n. 3, p. 1, doi. 10.1002/jbm4.10335
    By:
    • Chen, Shan;
    • Jain, Mahim;
    • Jhangiani, Shalini;
    • Akdemir, Zeynep C;
    • Campeau, Philippe M;
    • Klein, Robert F;
    • Nielson, Carrie;
    • Dai, Hongzheng;
    • Muzny, Donna M;
    • Boerwinkle, Eric;
    • Gibbs, Richard A;
    • Orwoll, Eric S;
    • Lupski, James R;
    • Posey, Jennifer E;
    • Lee, Brendan
    Publication type:
    Article

  • MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

    Published in:
    Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0360-6
    By:
    • Eldomery, Mohammad K.;
    • Akdemir, Zeynep C.;
    • Vögtle, F.-Nora;
    • Wu-Lin Charng;
    • Mulica, Patrycja;
    • Rosenfeld, Jill A.;
    • Gambin, Tomasz;
    • Shen Gu;
    • Burrage, Lindsay C.;
    • Al Shamsi, Aisha;
    • Penney, Samantha;
    • Jhangiani, Shalini N.;
    • Zimmerman, Holly H.;
    • Muzny, Donna M.;
    • Xia Wang;
    • Jia Tang;
    • Medikonda, Ravi;
    • Ramachandran, Prasanna V.;
    • Lee-Jun Wong;
    • Boerwinkle, Eric
    Publication type:
    Article