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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
Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?
Published in:
Journal of Genetic Counseling, 2018, v. 27, n. 4, p. 935, doi. 10.1007/s10897-017-0193-5
By:
- Mcconkie-Rosell, Allyn;
- Hooper, Stephen R.;
- Pena, Loren D. M.;
- Schoch, Kelly;
- Spillmann, Rebecca C.;
- Jiang, Yong-Hui;
- Cope, Heidi;
- Undiagnosed Diseases Network;
- Palmer, Christina;
- Shashi, Vandana
Publication type:
Article
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
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
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
Adults with lysosomal storage diseases in the undiagnosed diseases network.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 9, p. 1, doi. 10.1002/mgg3.2013
By:
- Xiao, Changrui;
- Koziura, Mary;
- Cope, Heidi;
- Spillman, Rebecca;
- Tan, Khoon;
- Hisama, Fuki M.;
- Tifft, Cynthia J.;
- Toro, Camilo
Publication type:
Article
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
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
Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions.
Published in:
Journal of Participatory Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.2196/jopm.8958
By:
- Katsanis, Sara Huston;
- Minear, Mollie A;
- Sadeghpour, Azita;
- Cope, Heidi;
- Perilla, Yezmin;
- Cook-Deegan, Robert;
- Genomics, Duke Task Force For Neonatal;
- Katsanis, Nicholas;
- Davis, Erica E;
- Angrist, Misha
Publication type:
Article
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
Stratified Whole Genome Linkage Analysis of Chiari Type I Malformation Implicates Known Klippel-Feil Syndrome Genes as Putative Disease Candidates.
Published in:
PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0061521
By:
- Markunas, Christina A.;
- Soldano, Karen;
- Dunlap, Kaitlyn;
- Cope, Heidi;
- Asiimwe, Edgar;
- Stajich, Jeffrey;
- Enterline, David;
- Grant, Gerald;
- Fuchs, Herbert;
- Gregory, Simon G.;
- Ashley-Koch, Allison E.
Publication type:
Article
Genetic Evaluation and Application of Posterior Cranial Fossa Traits as Endophenotypes for Chiari Type I Malformation.
Published in:
Annals of Human Genetics, 2014, v. 78, n. 1, p. 1, doi. 10.1111/ahg.12041
By:
- Markunas, Christina A.;
- Enterline, David S.;
- Dunlap, Kaitlyn;
- Soldano, Karen;
- Cope, Heidi;
- Stajich, Jeffrey;
- Grant, Gerald;
- Fuchs, Herbert;
- Gregory, Simon G.;
- Ashley‐Koch, Allison E.
Publication type:
Article
Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics.
Published in:
BMC Medical Genomics, 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8794-7-39
By:
- Markunas, Christina A.;
- Lock, Eric;
- Soldano, Karen;
- Cope, Heidi;
- Ding, Chien-Kuang C.;
- Enterline, David S.;
- Grant, Gerald;
- Fuchs, Herbert;
- Ashley-Koch, Allison E.;
- Gregory, Simon G.
Publication type:
Article
Effect of Acute Heat Exposure on the Pressor Response to a Voluntary Hypoxic Apnea: A Cross‐Tolerance Study.
Published in:
FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R2111
By:
- Cope, Heidi L.;
- Hemingway, Holden W.;
- Saul, Benjamin M.;
- Richey, Rauchelle E.;
- Moore, Amy M.;
- Shokraeifard, Austin M.;
- Olivencia‐Yurvati, Albert H.;
- Smith, Michael L.;
- Romero, Steven A.
Publication type:
Article
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
Use of a web‐based portal to return normal individual research results in Early Check: Exploring user behaviors and attitudes.
Published in:
Clinical Genetics, 2023, v. 103, n. 6, p. 672, doi. 10.1111/cge.14325
By:
- Cope, Heidi;
- Lincoln‐Boyea, Beth;
- Gwaltney, Angela You;
- Biesecker, Barbara B.;
- Moultrie, Rebecca;
- Alexander, Amir A.;
- King, Nancy M. P.;
- Check, Jennifer;
- Corbo, Allyson;
- Tzeng, Janice;
- Porter, Katherine Ackerman;
- Peay, Holly L.
Publication type:
Article
The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.
Published in:
Clinical Genetics, 2019, v. 96, n. 6, p. 521, doi. 10.1111/cge.13635
By:
- McConkie‐Rosell, Allyn;
- Schoch, Kelly;
- Sullivan, Jennifer;
- Cope, Heidi;
- Spillmann, Rebecca;
- Palmer, Christina G.S.;
- Pena, Loren;
- Jiang, Yong‐Hui;
- Daniels, Nicole;
- Walley, Nicole;
- Tan, Khoon G.;
- Hooper, Stephen R.;
- Shashi, Vandana
Publication type:
Article
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
NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.
Published in:
International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 63, doi. 10.3390/ijns9040063
By:
- Chan, Kee;
- Hu, Zhanzhi;
- Bush, Lynn W.;
- Cope, Heidi;
- Holm, Ingrid A.;
- Kingsmore, Stephen F.;
- Wilhelm, Kevin;
- Scharfe, Curt;
- Brower, Amy
Publication type:
Article
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
Anencephaly: Insights for Genetic Counseling.
Published in:
Journal of Prenatal & Perinatal Psychology & Health, 2019, v. 33, n. 3, p. 189
By:
- Cope, Heidi L.;
- Garrett, Melanie E.;
- Ashley-Koch, Allison
Publication type:
Article
Pregnancy continuation and organizational religious activity following prenatal diagnosis of a lethal fetal defect are associated with improved psychological outcome.
Published in:
Prenatal Diagnosis, 2015, v. 35, n. 8, p. 761, doi. 10.1002/pd.4603
By:
- Cope, Heidi;
- Garrett, Melanie E.;
- Gregory, Simon;
- Ashley‐Koch, Allison
Publication type:
Article
Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia.
Published in:
Human Mutation, 2020, v. 41, n. 3, p. 632, doi. 10.1002/humu.23950
By:
- Gu, Shen;
- Chen, Chun‐An;
- Rosenfeld, Jill A.;
- Cope, Heidi;
- Launay, Nathalie;
- Flanigan, Kevin M.;
- Waldrop, Megan A.;
- Schrader, Rachel;
- Juusola, Jane;
- Goker‐Alpan, Ozlem;
- Milunsky, Aubrey;
- Schlüter, Agatha;
- Troncoso, Mónica;
- Pujol, Aurora;
- Tan, Queenie K.‐G.;
- Schaaf, Christian P.;
- Meng, Linyan
Publication type:
Article
Characteristics of undiagnosed diseases network applicants: implications for referring providers.
Published in:
2018
By:
- Walley, Nicole M;
- Pena, Loren D M;
- Hooper, Stephen R;
- Cope, Heidi;
- Jiang, Yong-Hui;
- McConkie-Rosell, Allyn;
- Sanders, Camilla;
- Schoch, Kelly;
- Spillmann, Rebecca C;
- Strong, Kimberly;
- McCray, Alexa T;
- Mazur, Paul;
- Esteves, Cecilia;
- LeBlanc, Kimberly;
- Undiagnosed Diseases Network;
- Wise, Anastasia L;
- Shashi, Vandana
Publication type:
journal article
Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation.
Published in:
BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-014-1211-8
By:
- Lock, Eric F.;
- Soldano, Karen L.;
- Garrett, Melanie E.;
- Cope, Heidi;
- Markunas, Christina A.;
- Fuchs, Herbert;
- Grant, Gerald;
- Dunson, David B.;
- Gregory, Simon G.;
- Ashley-Koch, Allison E.
Publication type:
Article
Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation.
Published in:
BMC Genomics, 2015, v. 16, n. 1, p. 443, doi. 10.1186/s12864-014-1211-8
By:
- Lock, Eric F.;
- Soldano, Karen L.;
- Garrett, Melanie E.;
- Cope, Heidi;
- Markunas, Christina A.;
- Fuchs, Herbert;
- Grant, Gerald;
- Dunson, David B.;
- Gregory, Simon G.;
- Ashley-Koch, Allison E.
Publication type:
Article

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