Heidi Cope

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 5

Top Topics

Dna Methylation

Intellectual Disability

Hepatitis C Virus

Top Venues

Molecular genetics & genomic medicine

Journal of participatory medicine

International journal of neonatal screening

This page only lists publications with an associated author ORCID identifier.

Publications

Kee Chan, Zhanzhi Hu, Lynn W Bush, Heidi Cope, Ingrid A Holm, Stephen F Kingsmore, Kevin Wilhelm, Curt Scharfe, Amy M Brower
NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders. International journal of neonatal screening 9 (4) (2023)
Ilaria Parenti, Daphne Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, Stella A de Man, Heidi Cope, Vandana Shashi, null null, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frederic Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, Ingrid M B H van de Laar, Marjon A van Slegtenhorst, Philippe M Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J Louie, Michael J Lyons, Amy Dobson, Astrid S Plomp, M Mahdi Motazacker, Frank J Kaiser, Andrew T Timberlake, Sabine A Fuchs, Christel Depienne, Mignot Cyril
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human genetics 140 (7) (2021)
Heidi Cope, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, Catherine Rehder, Kristen Deak, Anna Alkelai, null null, Eric Vilain, Vandana Shashi
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey. Molecular genetics & genomic medicine 9 (7) (2021)
Heidi Cope, Rebecca Spillmann, Jill A Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch, Emily G Kelley, Jennifer A Sullivan, Ellen Macnamara, Sharyn Lincoln, Katie Golden-Grant, null null, James P Orengo, Gary Clark, Lindsay C Burrage, Jennifer E Posey, Jaya Punetha, Amy Robertson, Joy Cogan, John A Phillips, Julian A Martinez, Vandana Shashi
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. Molecular genetics & genomic medicine 8 (10) (2020)
Sara Huston Katsanis, Mollie A Minear, Azita Sadeghpour, Heidi Cope, Yezmin Perilla, Robert M Cook-Deegan, null null, Nicholas Katsanis, Erica E Davis, Misha Angrist
Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions. Journal of participatory medicine 10 (1) (2018)