Search Results - Robert Hopkin

  • Showing 1 - 8 results of 8
Refine Results
  1. 1

    P223: STAG2 is a novel genetic cause of atelencephaly by Julie Lander, Rama Ayyala, Cameron Thomas, Robert Hopkin

    Published in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


  2. 2

    O29: Providing genetic evaluation and testing to patients with neurodevelopmental disorders in the inpatient psychiatry setting may reduce inpatient hospital stays* by Amelle Shillington, Robert Hopkin, Katherine Harris, Martine Lamy

    Published in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


  3. 3

    Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5’s Role Beyond Familial Epilepsy: A Case Report and Literature Review by Rory Edwards, Grace Murphy, Joshua W. Owens, Craig Erickson, Robert Hopkin, Amelle Shillington

    Published in Case Reports in Genetics (2025-01-01)
    Get full text
    Article


  4. 4

    A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disor... by Amelle Shillington, Amelle Shillington, Amelle Shillington, Martine Lamy, Martine Lamy, Kelli C. Dominick, Kelli C. Dominick, Michael Sorter, Michael Sorter, Craig A. Erickson, Craig A. Erickson, Robert Hopkin, Robert Hopkin

    Published in Frontiers in Genetics (2022-06-01)
    Get full text
    Article


  5. 5

    P351: Genetic testing for patients with neurodevelopmental disorders in the inpatient psychiatry setting may reduce hospital stays and improve behavioral outcomes by Amelle Shillington, Lori White, Rachel Doberstein, Robert Hopkin, Katherine Harris, Katherine Zappia, Martine Lamy

    Published in Genetics in Medicine Open (2024-01-01)
    Get full text
    Article


  6. 6

    P189: Endocrinopathies in TAOK1-related neurodevelopmental disorders: An expanded case series on the evolution of symptoms in adolescents and young adults by Samuel Carter, Matthias Tedros, Joshua Owens, Ethan Sperry, Ghada Hijazi, Elizabeth Seiwert, Wenying Zhang, Robert Hopkin, Amelle Shillington, Yaning Wu, Matthias Tedros

    Published in Genetics in Medicine Open (2025-01-01)
    Get full text
    Article


  7. 7

    P764: RNA sequencing improves assessment of variants of uncertain significance from fetal genome and exome sequencing* by Atteeq Rehman, Amanda Thomas-Wilson, Frederic Tran Mau-Them, Leandra Tolusso, Avinash Abyankar, Saurav Guha, Volkan Okur, Vanessa Felice, Robert Hopkin, Ashley Wilson, Ted Han, Qiaoning Guan, Jessica Giordano, Anne-Claire Bréhin, Ronald Wapner, Vaidehi Jobanputra

    Published in Genetics in Medicine Open (2024-01-01)
    Get full text
    Article


  8. 8

    P005: Head-to-head trial of pegunigalsidase alfa vs agalsidase beta in Fabry disease: Phase 3 randomized, double-blind, BALANCE Study 2-year results by John Bernat, Eric Wallace, Ozlem Goker-Alpan, William Wilcox, Myrl Holida, Nicola Longo, Derralynn Hughes, Pilar Giraldo, Maria Molnar, Damara Ortiz, Robert Hopkin, Camilla Tondel, Ales Linhart, Patrick Deegan, Ana Jovanovic, Michael Muriello, Bruce Barshop, Virginia Kimonis, Bojan Vujkovac, Albina Nowak, Tarekegn Hiwot, Antonio Pisani, Dominique Germain, Ilkka Kantola, Jasmine Knoll, Ankit Mehta, Stephen Waldek, Einat Almon, Sari Alon, Raul Chertkoff, Rossana Rocco, David Warnock

    Published in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


Search Tools: