Works by Cope, Heidi

Results: 27
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    Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1665
    By:
    • Cope, Heidi;
    • Barseghyan, Hayk;
    • Bhattacharya, Surajit;
    • Fu, Yulong;
    • Hoppman, Nicole;
    • Marcou, Cherisse;
    • Walley, Nicole;
    • Rehder, Catherine;
    • Deak, Kristen;
    • Alkelai, Anna;
    • Vilain, Eric;
    • Shashi, Vandana;
    • Acosta, Maria T;
    • Adam, Margaret;
    • Adams, David R;
    • Agrawal, Pankaj B;
    • Alejandro, Mercedes E;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley
    Publication type:
    Article
    3

    Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1397
    By:
    • Cope, Heidi;
    • Spillmann, Rebecca;
    • Rosenfeld, Jill A.;
    • Brokamp, Elly;
    • Signer, Rebecca;
    • Schoch, Kelly;
    • Kelley, Emily G.;
    • Sullivan, Jennifer A.;
    • Macnamara, Ellen;
    • Lincoln, Sharyn;
    • Golden‐Grant, Katie;
    • Orengo, James P.;
    • Clark, Gary;
    • Burrage, Lindsay C.;
    • Posey, Jennifer E.;
    • Punetha, Jaya;
    • Robertson, Amy;
    • Cogan, Joy;
    • Phillips, John A.;
    • Martinez‐Agosto, Julian
    Publication type:
    Article
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    Clinician Perspectives of Gene Therapy as a Treatment Option for Duchenne Muscular Dystrophy.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1085, doi. 10.3233/JND-240033
    By:
    • Cope, Heidi;
    • Fischer, Ryan;
    • Heslop, Emma;
    • McNiff, Megan;
    • Johnson, Alexandra;
    • Camino, Eric;
    • Denger, Brian;
    • Armstrong, Niki;
    • Thakrar, Sejal;
    • Bateman-House, Alison;
    • Beaverson, Katherine L.;
    • Woollacott, Ione O.C.;
    • Phillips, Dawn;
    • Fernandez, Vivian;
    • Ganot, Annie;
    • Donisa-Dreghici, Roxana;
    • Mansfield, Carol;
    • Peay, Holly
    Publication type:
    Article
    7

    Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.

    Published in:
    Journal of Genetic Counseling, 2022, v. 31, n. 1, p. 59, doi. 10.1002/jgc4.1451
    By:
    • McConkie‐Rosell, Allyn;
    • Schoch, Kelly;
    • Sullivan, Jennifer;
    • Spillmann, Rebecca C.;
    • Cope, Heidi;
    • Tan, Queenie K.‐G.;
    • Palmer, Christina G. S.;
    • Hooper, Stephen R.;
    • Shashi, Vandana;
    • Acosta, Maria T.;
    • Adam, Margaret;
    • Adams, David R.;
    • Agrawal, Pankaj B.;
    • Alejandro, Mercedes E.;
    • Alvey, Justin;
    • Amendola, Laura;
    • Andrews, Ashley;
    • Ashley, Euan A.;
    • Azamian, Mahshid S.;
    • Bacino, Carlos A.
    Publication type:
    Article
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    Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

    Published in:
    Human Genetics, 2021, v. 140, n. 7, p. 1109, doi. 10.1007/s00439-021-02283-2
    By:
    • Parenti, Ilaria;
    • Lehalle, Daphné;
    • Nava, Caroline;
    • Torti, Erin;
    • Leitão, Elsa;
    • Person, Richard;
    • Mizuguchi, Takeshi;
    • Matsumoto, Naomichi;
    • Kato, Mitsuhiro;
    • Nakamura, Kazuyuki;
    • de Man, Stella A.;
    • Cope, Heidi;
    • Shashi, Vandana;
    • Friedman, Jennifer;
    • Joset, Pascal;
    • Steindl, Katharina;
    • Rauch, Anita;
    • Muffels, Irena;
    • van Hasselt, Peter M.;
    • Petit, Florence
    Publication type:
    Article
    14

    Diagnosis of TBC1D32‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1282, doi. 10.1002/ajmg.a.63150
    By:
    • Harris, Sarah C.;
    • Chong, Karen;
    • Chitayat, David;
    • Gilmore, Kelly L.;
    • Jorge, Alexander A. L.;
    • Freire, Bruna L.;
    • Lerario, Antonio;
    • Shannon, Patrick;
    • Cope, Heidi;
    • Gallentine, William B.;
    • Le Guyader, Gwenal;
    • Bilan, Frederic;
    • Létard, Pascaline;
    • Davis, Erica E.;
    • Vora, Neeta L.
    Publication type:
    Article
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    TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

    Published in:
    Journal of Cell Biology, 2015, v. 209, n. 1, p. 129, doi. 10.1083/jcb.201411087
    By:
    • Roberson, Elle C.;
    • Dowdle, William E.;
    • Ozanturk, Aysegul;
    • Garcia-Gonzalo, Francesc R.;
    • Chunmei Li;
    • Halbritter, Jan;
    • Elkhartoufi, Nadia;
    • Porath, Jonathan D.;
    • Cope, Heidi;
    • Ashley-Koch, Allison;
    • Gregory, Simon;
    • Thomas, Sophie;
    • Sayer, John A.;
    • Saunier, Sophie;
    • Otto, Edgar A.;
    • Katsanis, Nicholas;
    • Davis, Erica E.;
    • Attié-Bitach, Tania;
    • Hildebrandt, Friedhelm;
    • Leroux, Michel R.
    Publication type:
    Article
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    Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study.

    Published in:
    Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.891592
    By:
    • Peay, Holly L.;
    • Gwaltney, Angela You;
    • Moultrie, Rebecca;
    • Cope, Heidi;
    • Boyea, Beth Lincoln‐;
    • Porter, Katherine Ackerman;
    • Duparc, Martin;
    • Alexander, Amir A.;
    • Biesecker, Barbara B.;
    • Isiaq, Aminah;
    • Check, Jennifer;
    • Gehtland, Lisa;
    • Bailey Jr, Donald B.;
    • King, Nancy M. P.
    Publication type:
    Article
    22

    Age of diagnosis for children with chromosome 15q syndromes.

    Published in:
    Journal of Neurodevelopmental Disorders, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s11689-023-09504-x
    By:
    • Wheeler, Anne C.;
    • Gantz, Marie G.;
    • Cope, Heidi;
    • Strong, Theresa V.;
    • Bohonowych, Jessica E.;
    • Moore, Amanda;
    • Vogel-Farley, Vanessa
    Publication type:
    Article
    23

    SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1420, doi. 10.1093/brain/awac460
    By:
    • Srivastava, Siddharth;
    • Shaked, Hagar Mor;
    • Gable, Kenneth;
    • Gupta, Sita D;
    • Pan, Xueyang;
    • Somashekarappa, Niranjanakumari;
    • Han, Gongshe;
    • Mohassel, Payam;
    • Gotkine, Marc;
    • Doney, Elizabeth;
    • Goldenberg, Paula;
    • Tan, Queenie K G;
    • Gong, Yi;
    • Kleinstiver, Benjamin;
    • Wishart, Brian;
    • Cope, Heidi;
    • Pires, Claudia Brito;
    • Stutzman, Hannah;
    • Spillmann, Rebecca C;
    • Network, Undiagnosed Disease
    Publication type:
    Article
    24

    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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