Works by Hurst, Anna C E

Results: 21
    1

    Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

    Published in:
    Human Mutation, 2020, v. 41, n. 3, p. 641, doi. 10.1002/humu.23960
    By:
    • Assia Batzir, Nurit;
    • Kishor Bhagwat, Pranjali;
    • Larson, Austin;
    • Coban Akdemir, Zeynep;
    • Bagłaj, Maciej;
    • Bofferding, Leon;
    • Bosanko, Katherine B.;
    • Bouassida, Skander;
    • Callewaert, Bert;
    • Cannon, Ashley;
    • Enchautegui Colon, Yazmin;
    • Garnica, Adolfo D.;
    • Harr, Margaret H.;
    • Heck, Sandra;
    • Hurst, Anna C. E.;
    • Jhangiani, Shalini N.;
    • Isidor, Bertrand;
    • Littlejohn, Rebecca O.;
    • Liu, Pengfei;
    • Magoulas, Pilar
    Publication type:
    Article
    2
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    De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 17, p. 2937, doi. 10.1093/hmg/ddz117
    By:
    • Liang, Lina;
    • Li, Xia;
    • Moutton, Sébastien;
    • Vergano, Samantha A Schrier;
    • Cogné, Benjamin;
    • Saint-Martin, Anne;
    • Hurst, Anna C E;
    • Hu, Yushuang;
    • Bodamer, Olaf;
    • Thevenon, Julien;
    • Hung, Christina Y;
    • Isidor, Bertrand;
    • Gerard, Bénédicte;
    • Rega, Adelaide;
    • Nambot, Sophie;
    • Lehalle, Daphné;
    • Duffourd, Yannis;
    • Thauvin-Robinet, Christel;
    • Faivre, Laurence;
    • Bézieau, Stéphane
    Publication type:
    Article
    4

    Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

    Published in:
    Human Genetics, 2024, v. 143, n. 3, p. 455, doi. 10.1007/s00439-024-02655-4
    By:
    • Herbst, Charlotte;
    • Bothe, Viktoria;
    • Wegler, Meret;
    • Axer-Schaefer, Susanne;
    • Audebert-Bellanger, Séverine;
    • Gecz, Jozef;
    • Cogne, Benjamin;
    • Feldman, Hagit Baris;
    • Horn, Anselm H. C.;
    • Hurst, Anna C. E.;
    • Kelly, Melissa A.;
    • Kruer, Michael C.;
    • Kurolap, Alina;
    • Laquerriere, Annie;
    • Li, Megan;
    • Mark, Paul R.;
    • Morawski, Markus;
    • Nizon, Mathilde;
    • Pastinen, Tomi;
    • Polster, Tilman
    Publication type:
    Article
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    De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63559
    By:
    • Ha, Thoa;
    • Morgan, Angela;
    • Bartos, Meghan N.;
    • Beatty, Katelyn;
    • Cogné, Benjamin;
    • Braun, Dominique;
    • Gerber, Céline B.;
    • Gaspar, Harald;
    • Kopps, Anna M.;
    • Rieubland, Claudine;
    • Hurst, Anna C. E.;
    • Amor, David J.;
    • Nizon, Mathilde;
    • Pasquier, Laurent;
    • Pfundt, Rolph;
    • Reis, André;
    • Siu, Victoria Mok;
    • Tessarech, Marine;
    • Thompson, Michelle L.;
    • Vincent, Marie
    Publication type:
    Article
    8
    9

    Perspectives on the future of dysmorphology.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 659, doi. 10.1002/ajmg.a.63060
    By:
    • Solomon, Benjamin D.;
    • Adam, Margaret P.;
    • Fong, Chin‐To;
    • Girisha, Katta M.;
    • Hall, Judith G.;
    • Hurst, Anna C. E.;
    • Krawitz, Peter M.;
    • Moosa, Shahida;
    • Phadke, Shubha R.;
    • Tekendo‐Ngongang, Cedrik;
    • Wenger, Tara L.
    Publication type:
    Article
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    Listening to patients with suspected genetic diagnoses: A narrative perspective.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 2/3, p. 1, doi. 10.1002/ajmg.c.32079
    By:
    • Slocum, Robert B.;
    • Hurst, Anna C. E.;
    • Shelley, Ellis;
    • Berry, Lisa;
    • Hopkin, Robert J.;
    • Rippert, Alyssa L.;
    • Bhoj, Elizabeth;
    • Graham, John M.;
    • Grand, Katheryn;
    • Gonzalez, Aixa;
    • Zarate, Yuri A.
    Publication type:
    Article
    13

    DNA Methylation Signature for JARID2 -Neurodevelopmental Syndrome.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 14, p. 8001, doi. 10.3390/ijms23148001
    By:
    • Verberne, Eline A.;
    • van der Laan, Liselot;
    • Haghshenas, Sadegheh;
    • Rooney, Kathleen;
    • Levy, Michael A.;
    • Alders, Mariëlle;
    • Maas, Saskia M.;
    • Jansen, Sandra;
    • Lieden, Agne;
    • Anderlid, Britt-Marie;
    • Rafael-Croes, Louise;
    • Campeau, Philippe M.;
    • Chaudhry, Ayeshah;
    • Koolen, David A.;
    • Pfundt, Rolph;
    • Hurst, Anna C. E.;
    • Tran-Mau-Them, Frederic;
    • Bruel, Ange-Line;
    • Lambert, Laetitia;
    • Isidor, Bertrand
    Publication type:
    Article
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    Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1366, doi. 10.1002/ajmg.a.62102
    By:
    • Glinton, Kevin E.;
    • Hurst, Anna C. E.;
    • Bowling, Kevin M.;
    • Cristian, Ingrid;
    • Haynes, Devon;
    • Adstamongkonkul, Dusit;
    • Schnappauf, Oskar;
    • Beck, David B.;
    • Brewer, Carole;
    • Parikh, Aditi Shah;
    • Shinde, Deepali N.;
    • Donaldson, Alan;
    • Brautbar, Ariel;
    • Koene, Saskia;
    • Haeringen, Arie;
    • Piton, Amélie;
    • Capri, Yline;
    • Furlan, Margherita;
    • Gardella, Elena;
    • Møller, Rikke Steensbjerre
    Publication type:
    Article
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    Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.

    Published in:
    Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. 4232, doi. 10.1093/brain/awac049
    By:
    • Banka, Siddharth;
    • Bennington, Abigail;
    • Baker, Martin J;
    • Rijckmans, Ellen;
    • Clemente, Giuliana D;
    • Ansor, Nurhuda Mohamad;
    • Sito, Hilary;
    • Prasad, Pritha;
    • Anyane-Yeboa, Kwame;
    • Badalato, Lauren;
    • Dimitrov, Boyan;
    • Fitzpatrick, David;
    • Hurst, Anna C E;
    • Jansen, Anna C;
    • Kelly, Melissa A;
    • Krantz, Ian;
    • Rieubland, Claudine;
    • Ross, Meredith;
    • Rudy, Natasha L;
    • Sanz, Javier
    Publication type:
    Article
    20

    Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.

    Published in:
    2022
    By:
    • Bainbridge, Matthew N;
    • Mazumder, Aloran;
    • Ogasawara, Daisuke;
    • Jamra, Rami Abou;
    • Bernard, Geneviève;
    • Bertini, Enrico;
    • Burglen, Lydie;
    • Cope, Heidi;
    • Crawford, Ali;
    • Derksen, Alexa;
    • Dure, Leon;
    • Gantz, Emily;
    • Koch-Hogrebe, Margarete;
    • Hurst, Anna C E;
    • Mahida, Sonal;
    • Marshall, Paige;
    • Micalizzi, Alessia;
    • Novelli, Antonio;
    • Peng, Hongfan;
    • Medicine, Rady Children's Institute for Genomic
    Publication type:
    journal article
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