Gillespie MK - Search Results

1

Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizations.

Hartley T, Gillespie MK, Graham ID, Hayeems RZ, Li S, Sampson M, Boycott KM, Potter BK. Hartley T, et al. Among authors: gillespie mk. Genet Med. 2023 Nov;25(11):100948. doi: 10.1016/j.gim.2023.100948. Epub 2023 Aug 5. Genet Med. 2023. PMID: 37551668 Free article. Review.

2

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.

Malam F, Hartley T, Gillespie MK, Armour CM, Bariciak E, Graham GE, Nikkel SM, Richer J, Sawyer SL, Boycott KM, Dyment DA. Malam F, et al. Among authors: gillespie mk. Am J Med Genet A. 2017 Jul;173(7):1839-1847. doi: 10.1002/ajmg.a.38250. Epub 2017 May 9. Am J Med Genet A. 2017. PMID: 28488422

3

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Hartley T, Wagner JD, Warman-Chardon J, Tétreault M, Brady L, Baker S, Tarnopolsky M, Bourque PR, Parboosingh JS, Smith C, McInnes B, Innes AM, Bernier F, Curry CJ, Yoon G, Horvath GA, Bareke E, Gillespie M; FORGE Canada Consortium; Care4Rare Canada Consortium; Majewski J, Bulman DE, Dyment DA, Boycott KM. Hartley T, et al. Clin Genet. 2018 Feb;93(2):301-309. doi: 10.1111/cge.13101. Epub 2017 Dec 12. Clin Genet. 2018. PMID: 28708278

4

Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.

Gillespie MK, Humphreys P, McMillan HJ, Boycott KM. Gillespie MK, et al. J Child Neurol. 2018 Apr;33(5):329-332. doi: 10.1177/0883073818756680. Epub 2018 Feb 8. J Child Neurol. 2018. PMID: 29421991 Review.

5

Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases.

Marshall DA, Benchimol EI, MacKenzie A, Duque DR, MacDonald KV, Hartley T, Howley H, Hamilton A, Gillespie M, Malam F, Boycott KM. Marshall DA, et al. Genet Med. 2019 May;21(5):1049-1057. doi: 10.1038/s41436-018-0289-9. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245512 Free article. Review.

6

The value of diagnostic testing for parents of children with rare genetic diseases.

Marshall DA, MacDonald KV, Heidenreich S, Hartley T, Bernier FP, Gillespie MK, McInnes B, Innes AM, Armour CM, Boycott KM. Marshall DA, et al. Among authors: gillespie mk. Genet Med. 2019 Dec;21(12):2798-2806. doi: 10.1038/s41436-019-0583-1. Epub 2019 Jun 26. Genet Med. 2019. PMID: 31239560 Free article.

7

Correction: The value of diagnostic testing for parents of children with rare genetic diseases.

Marshall DA, MacDonald KV, Heidenreich S, Hartley T, Bernier FP, Gillespie MK, McInnes B, Innes AM, Armour CM, Boycott KM. Marshall DA, et al. Among authors: gillespie mk. Genet Med. 2019 Nov;21(11):2662. doi: 10.1038/s41436-019-0615-x. Genet Med. 2019. PMID: 31316168 Free article.

8

A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.

Gillespie MK, McMillan HJ, Kernohan KD, Pena IA, Meyer-Schuman R; Care4Rare Canada Consortium; Antonellis A, Boycott KM. Gillespie MK, et al. J Neuromuscul Dis. 2019;6(3):333-339. doi: 10.3233/JND-190404. J Neuromuscul Dis. 2019. PMID: 31356216 Free PMC article.

9

Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review.

Weiman DI, Gillespie MK, Hartley T, Osmond M, Ito Y; Care4Rare Canada Consortium; Boycott KM, Kernohan KD, Lines M, McMillan HJ. Weiman DI, et al. Among authors: gillespie mk. Child Neurol Open. 2021 Oct 4;8:2329048X211031059. doi: 10.1177/2329048X211031059. eCollection 2021 Jan-Dec. Child Neurol Open. 2021. PMID: 34796249 Free PMC article.

10

Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia.

Estiar MA, Lail N, Dyment DA, Varghaei P, Hartley T, Gillespie MK, Yoon G, Boycott KM, Rouleau GA, Gan-Or Z. Estiar MA, et al. Among authors: gillespie mk. Ann Neurol. 2022 May;91(5):730-732. doi: 10.1002/ana.26275. Epub 2021 Dec 14. Ann Neurol. 2022. PMID: 34825409 No abstract available.

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