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Author/Creator Cope, Heidi

2. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. (August 2018)

Authors:
Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U...
Journal:
Neurology
Issue:
Volume 4:Number 4(2018)
Page Start:
Record Type:
Journal Article
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3. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples. Issue 1 (11th June 2021)

Authors:
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
Other Names:
Acosta Maria T. investigator.; Adam Margaret investigator.; Adams David R. investigator.; Agrawal Pankaj B. investigator.; Alejandro Mercedes E. investigator.; Alvey Justin investigator.; Amendola Laura investigator.; Andrews Ashley investigator.; Ashley Euan A. investigator.; Azamian Mahshid S. ...
Journal:
Journal of genetic counseling
Issue:
Volume 31:Issue 1(2022)
Page Start:
59
Record Type:
Journal Article
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4. Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey. Issue 7 (6th May 2021)

Authors:
Cope, Heidi; Barseghyan, Hayk; Bhattacharya, Surajit; Fu, Yulong; Hoppman, Nicole; Marcou, Cherisse; Walley, Nicole; Rehder, Catherine; Deak, Kristen; Alkelai, Anna; Vilain, Eric; Shashi, Vandana
Other Names:
Acosta Maria T investigator.; Adam Margaret investigator.; Adams David R investigator.; Agrawal Pankaj B investigator.; Alejandro Mercedes E investigator.; Alvey Justin investigator.; Amendola Laura investigator.; Andrews Ashley investigator.; Ashley Euan A investigator.; Azamian Mahshid S. inves...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 7(2021)
Page Start:
n/a
Record Type:
Journal Article
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5. Diagnosis of TBC1D32‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy. Issue 5 (24th February 2023)

Authors:
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.
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 5(2023)
Page Start:
1282
Record Type:
Journal Article
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6. Genetic Evaluation and Application of Posterior Cranial Fossa Traits as Endophenotypes for Chiari Type I Malformation. (6th October 2013)

Authors:
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.
Journal:
Annals of human genetics
Issue:
Volume 78:Number 1(2014:Jan.)
Page Start:
1
Record Type:
Journal Article
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7. Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. Issue 10 (30th July 2020)

Authors:
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, Am...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 10(2020)
Page Start:
n/a
Record Type:
Journal Article
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9. Novel approaches to quantify CNS involvement in children with Pompe disease. (11th August 2020)

Authors:
Korlimarla, Aditi; Spiridigliozzi, Gail A.; Crisp, Kelly; Herbert, Mrudu; Chen, Steven; Malinzak, Michael; Stefanescu, Mihaela; Austin, Stephanie L.; Cope, Heidi; Zimmerman, Kanecia; Jones, Harrison; Provenzale, James M.; Kishnani, Priya S.
Journal:
Neurology
Issue:
Volume 95:Number 6(2020)
Page Start:
Record Type:
Journal Article
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