Cope H - Search Results

1

Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study.

Peay HL, Gwaltney AY, Moultrie R, Cope H, Boyea BL, Porter KA, Duparc M, Alexander AA, Biesecker BB, Isiaq A, Check J, Gehtland L, Bailey DB Jr, King NMP. Peay HL, et al. Among authors: cope h. Front Genet. 2022 May 12;13:891592. doi: 10.3389/fgene.2022.891592. eCollection 2022. Front Genet. 2022. PMID: 35646095 Free PMC article.

2

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.

Chan K, Hu Z, Bush LW, Cope H, Holm IA, Kingsmore SF, Wilhelm K, Scharfe C, Brower A. Chan K, et al. Among authors: cope h. Int J Neonatal Screen. 2023 Oct 30;9(4):63. doi: 10.3390/ijns9040063. Int J Neonatal Screen. 2023. PMID: 37987476 Free PMC article.

3

Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy.

Ha CI, DeArmey S, Cope H, Rairikar M, Kishnani PS. Ha CI, et al. Among authors: cope h. Mol Genet Metab Rep. 2017 Jun 22;12:82-84. doi: 10.1016/j.ymgmr.2017.06.003. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28702360 Free PMC article.

4

Genetic evaluation and application of posterior cranial fossa traits as endophenotypes for Chiari type I malformation.

Markunas CA, Enterline DS, Dunlap K, Soldano K, Cope H, Stajich J, Grant G, Fuchs H, Gregory SG, Ashley-Koch AE. Markunas CA, et al. Among authors: cope h. Ann Hum Genet. 2014 Jan;78(1):1-12. doi: 10.1111/ahg.12041. Epub 2013 Oct 6. Ann Hum Genet. 2014. PMID: 24359474 Free PMC article.

5

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.

Desai AK, Walters CK, Cope HL, Kazi ZB, DeArmey SM, Kishnani PS. Desai AK, et al. Mol Genet Metab. 2018 Feb;123(2):92-96. doi: 10.1016/j.ymgme.2017.12.435. Epub 2017 Dec 23. Mol Genet Metab. 2018. PMID: 29289479 Free PMC article.

6

Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening.

Herbert M, Cope H, Li JS, Kishnani PS. Herbert M, et al. Among authors: cope h. J Pediatr. 2018 Jul;198:308-312. doi: 10.1016/j.jpeds.2018.02.007. Epub 2018 Apr 4. J Pediatr. 2018. PMID: 29627187

7

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.

Herbert M, Case LE, Rairikar M, Cope H, Bailey L, Austin SL, Kishnani PS. Herbert M, et al. Among authors: cope h. Mol Genet Metab. 2019 Feb;126(2):106-116. doi: 10.1016/j.ymgme.2018.08.009. Epub 2018 Aug 23. Mol Genet Metab. 2019. PMID: 30655185 Free PMC article.

8

Novel approaches to quantify CNS involvement in children with Pompe disease.

Korlimarla A, Spiridigliozzi GA, Crisp K, Herbert M, Chen S, Malinzak M, Stefanescu M, Austin SL, Cope H, Zimmerman K, Jones H, Provenzale JM, Kishnani PS. Korlimarla A, et al. Among authors: cope h. Neurology. 2020 Aug 11;95(6):e718-e732. doi: 10.1212/WNL.0000000000009979. Epub 2020 Jun 9. Neurology. 2020. PMID: 32518148 Free PMC article.

9

[No title available]

[No authors listed] [No authors listed] PMID: 34663553

10

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.

McConkie-Rosell A, Schoch K, Sullivan J, Cope H, Spillmann R, Palmer CGS, Pena L, Jiang YH, Daniels N, Walley N, Tan KG; Undiagnosed Diseases Network; Hooper SR, Shashi V. McConkie-Rosell A, et al. Among authors: cope h. Clin Genet. 2019 Dec;96(6):521-531. doi: 10.1111/cge.13635. Epub 2019 Oct 8. Clin Genet. 2019. PMID: 31448412 Free PMC article.

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