Found: 16

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  • NAR Breakthrough Article denovo-db: a compendium of human de novo variants.

    Published in:
    Nucleic Acids Research, 2017, v. 45, n. D1, p. D804, doi. 10.1093/nar/gkw865
    By:
    • Turner, Tychele N.;
    • Qian Yi;
    • Krumm, Niklas;
    • Huddleston, John;
    • Hoekzema, Kendra;
    • Stessman, Holly A. F.;
    • Doebley, Anna-Lisa;
    • Bernier, Raphael A.;
    • Nickerson, Deborah A.;
    • Eichler, Evan E.
    Publication type:
    Article

  • Embryonic origin of two ASD subtypes of social symptom severity: the larger the brain cortical organoid size, the more severe the social symptoms.

    Published in:
    Molecular Autism, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s13229-024-00602-8
    By:
    • Courchesne, Eric;
    • Taluja, Vani;
    • Nazari, Sanaz;
    • Aamodt, Caitlin M.;
    • Pierce, Karen;
    • Duan, Kuaikuai;
    • Stophaeros, Sunny;
    • Lopez, Linda;
    • Barnes, Cynthia Carter;
    • Troxel, Jaden;
    • Campbell, Kathleen;
    • Wang, Tianyun;
    • Hoekzema, Kendra;
    • Eichler, Evan E.;
    • Nani, Joao V.;
    • Pontes, Wirla;
    • Sanchez, Sandra Sanchez;
    • Lombardo, Michael V.;
    • de Souza, Janaina S.;
    • Hayashi, Mirian A. F.
    Publication type:
    Article

  • Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

    Published in:
    Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
    By:
    • Gillentine, Madelyn A.;
    • Wang, Tianyun;
    • Hoekzema, Kendra;
    • Rosenfeld, Jill;
    • Liu, Pengfei;
    • Guo, Hui;
    • Kim, Chang N.;
    • De Vries, Bert B. A.;
    • Vissers, Lisenka E. L. M.;
    • Nordenskjold, Magnus;
    • Kvarnung, Malin;
    • Lindstrand, Anna;
    • Nordgren, Ann;
    • Gecz, Jozef;
    • Iascone, Maria;
    • Cereda, Anna;
    • Scatigno, Agnese;
    • Maitz, Silvia;
    • Zanni, Ginevra;
    • Bertini, Enrico
    Publication type:
    Article

  • Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

    Published in:
    Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
    By:
    • Gillentine, Madelyn A.;
    • Wang, Tianyun;
    • Hoekzema, Kendra;
    • Rosenfeld, Jill;
    • Liu, Pengfei;
    • Guo, Hui;
    • Kim, Chang N.;
    • De Vries, Bert B. A.;
    • Vissers, Lisenka E. L. M.;
    • Nordenskjold, Magnus;
    • Kvarnung, Malin;
    • Lindstrand, Anna;
    • Nordgren, Ann;
    • Gecz, Jozef;
    • Iascone, Maria;
    • Cereda, Anna;
    • Scatigno, Agnese;
    • Maitz, Silvia;
    • Zanni, Ginevra;
    • Bertini, Enrico
    Publication type:
    Article

  • What influences the worldwide genetic structure of sperm whales ( Physeter macrocephalus)?

    Published in:
    Molecular Ecology, 2016, v. 25, n. 12, p. 2754, doi. 10.1111/mec.13638
    By:
    • Alexander, Alana;
    • Steel, Debbie;
    • Hoekzema, Kendra;
    • Mesnick, Sarah L.;
    • Engelhaupt, Daniel;
    • Kerr, Iain;
    • Payne, Roger;
    • Baker, C. Scott
    Publication type:
    Article

  • Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder.

    Published in:
    Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 10, p. 1659, doi. 10.1002/aur.2385
    By:
    • Arnett, Anne B.;
    • Beighley, Jennifer S.;
    • Kurtz‐Nelson, Evangeline C.;
    • Hoekzema, Kendra;
    • Wang, Tianyun;
    • Bernier, Raphe A.;
    • Eichler, Evan E.
    Publication type:
    Article

  • The autism spectrum phenotype in ADNP syndrome.

    Published in:
    Autism Research: Official Journal of the International Society for Autism Research, 2018, v. 11, n. 9, p. 1300, doi. 10.1002/aur.1980
    By:
    • Arnett, Anne B.;
    • Rhoads, Candace L.;
    • Hoekzema, Kendra;
    • Turner, Tychele N.;
    • Gerdts, Jennifer;
    • Wallace, Arianne S.;
    • Bedrosian‐Sermone, Sandra;
    • Eichler, Evan E.;
    • Bernier, Raphael A.
    Publication type:
    Article

  • 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

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

    Published in:
    NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00308-x
    By:
    • Giannuzzi, Giuliana;
    • Chatron, Nicolas;
    • Mannik, Katrin;
    • Auwerx, Chiara;
    • Pradervand, Sylvain;
    • Willemin, Gilles;
    • Hoekzema, Kendra;
    • Nuttle, Xander;
    • Chrast, Jacqueline;
    • Sadler, Marie C.;
    • Porcu, Eleonora;
    • 16p11.2 Consortium;
    • Männik, Katrin;
    • Sanlaville, Damien;
    • Schluth-Bolard, Caroline;
    • Le Caignec, Cédric;
    • Nizon, Mathilde;
    • Martin, Sandra;
    • Jacquemont, Sébastien;
    • Bottani, Armand
    Publication type:
    Article

  • Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12435-8
    By:
    • Guo, Hui;
    • Bettella, Elisa;
    • Marcogliese, Paul C.;
    • Zhao, Rongjuan;
    • Andrews, Jonathan C.;
    • Nowakowski, Tomasz J.;
    • Gillentine, Madelyn A.;
    • Hoekzema, Kendra;
    • Wang, Tianyun;
    • Wu, Huidan;
    • Jangam, Sharayu;
    • Liu, Cenying;
    • Ni, Hailun;
    • Willemsen, Marjolein H.;
    • van Bon, Bregje W.;
    • Rinne, Tuula;
    • Stevens, Servi J. C.;
    • Kleefstra, Tjitske;
    • Brunner, Han G.;
    • Yntema, Helger G.
    Publication type:
    Article

  • Alpha Satellite Insertion Close to an Ancestral Centromeric Region.

    Published in:
    Molecular Biology & Evolution, 2021, v. 38, n. 12, p. 5576, doi. 10.1093/molbev/msab244
    By:
    • Giannuzzi, Giuliana;
    • Logsdon, Glennis A;
    • Chatron, Nicolas;
    • Miller, Danny E;
    • Reversat, Julie;
    • Munson, Katherine M;
    • Hoekzema, Kendra;
    • Bonnet-Dupeyron, Marie-Noëlle;
    • Rollat-Farnier, Pierre-Antoine;
    • Baker, Carl A;
    • Sanlaville, Damien;
    • Eichler, Evan E;
    • Schluth-Bolard, Caroline;
    • Reymond, Alexandre
    Publication type:
    Article

  • De novo genic mutations among a Chinese autism spectrum disorder cohort.

    Published in:
    Nature Communications, 2016, v. 7, n. 11, p. 13316, doi. 10.1038/ncomms13316
    By:
    • Wang, Tianyun;
    • Guo, Hui;
    • Xiong, Bo;
    • Stessman, Holly A.F.;
    • Wu, Huidan;
    • Coe, Bradley P.;
    • Turner, Tychele N.;
    • Liu, Yanling;
    • Zhao, Wenjing;
    • Hoekzema, Kendra;
    • Vives, Laura;
    • Xia, Lu;
    • Tang, Meina;
    • Ou, Jianjun;
    • Chen, Biyuan;
    • Shen, Yidong;
    • Xun, Guanglei;
    • Long, Min;
    • Lin, Janice;
    • Kronenberg, Zev N.
    Publication type:
    Article

  • Low Diversity in the Mitogenome of Sperm Whales Revealed by Next-Generation Sequencing.

    Published in:
    Genome Biology & Evolution, 2013, v. 5, n. 1, p. 113, doi. 10.1093/gbe/evs126
    By:
    • Alexander, Alana;
    • Steel, Debbie;
    • Slikas, Beth;
    • Hoekzema, Kendra;
    • Carraher, Colm;
    • Parks, Matthew;
    • Cronn, Richard;
    • Baker, C. Scott
    Publication type:
    Article

  • Accelerated Diversification Explains the Exceptional Species Richness of Tropical Characoid Fishes.

    Published in:
    Systematic Biology, 2022, v. 71, n. 1, p. 78, doi. 10.1093/sysbio/syab040
    By:
    • Melo, Bruno F;
    • Sidlauskas, Brian L;
    • Near, Thomas J;
    • Roxo, Fabio F;
    • Ghezelayagh, Ava;
    • Ochoa, Luz E;
    • Stiassny, Melanie L J;
    • Arroyave, Jairo;
    • Chang, Jonathan;
    • Faircloth, Brant C;
    • MacGuigan, Daniel J;
    • Harrington, Richard C;
    • Benine, Ricardo C;
    • Burns, Michael D;
    • Hoekzema, Kendra;
    • Sanches, Natalia C;
    • Maldonado-Ocampo, Javier A;
    • Castro, Ricardo M C;
    • Foresti, Fausto;
    • Alfaro, Michael E
    Publication type:
    Article

  • Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

    Published in:
    2020
    By:
    • Wang, Tianyun;
    • Hoekzema, Kendra;
    • Vecchio, Davide;
    • Wu, Huidan;
    • Sulovari, Arvis;
    • Coe, Bradley P.;
    • Gillentine, Madelyn A.;
    • Wilfert, Amy B.;
    • Perez-Jurado, Luis A.;
    • Kvarnung, Malin;
    • Sleyp, Yoeri;
    • Earl, Rachel K.;
    • Rosenfeld, Jill A.;
    • Geisheker, Madeleine R.;
    • Han, Lin;
    • Du, Bing;
    • Barnett, Chris;
    • Thompson, Elizabeth;
    • Shaw, Marie;
    • Carroll, Renee
    Publication type:
    Correction Notice

  • Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18723-y
    By:
    • Wang, Tianyun;
    • Hoekzema, Kendra;
    • Vecchio, Davide;
    • Wu, Huidan;
    • Sulovari, Arvis;
    • Coe, Bradley P.;
    • Gillentine, Madelyn A.;
    • Wilfert, Amy B.;
    • Perez-Jurado, Luis A.;
    • Kvarnung, Malin;
    • Sleyp, Yoeri;
    • Earl, Rachel K.;
    • Rosenfeld, Jill A.;
    • Geisheker, Madeleine R.;
    • Han, Lin;
    • Du, Bing;
    • Barnett, Chris;
    • Thompson, Elizabeth;
    • Shaw, Marie;
    • Carroll, Renee
    Publication type:
    Article