Warman-Chardon J - Search Results

1

Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

Huang L, Warman-Chardon J, Carter MT, Friend KL, Dudding TE, Schwartzentruber J, Zou R, Schofield PW, Douglas S, Bulman DE, Boycott KM. Huang L, et al. Orphanet J Rare Dis. 2022 Mar 29;17(1):143. doi: 10.1186/s13023-022-02297-7. Orphanet J Rare Dis. 2022. PMID: 35351177 Free PMC article. No abstract available.

2

Recent advances in the genetic etiology of brain malformations.

Dyment DA, Sawyer SL, Warman-Chardon J, Boycott KM. Dyment DA, et al. Curr Neurol Neurosci Rep. 2013 Aug;13(8):364. doi: 10.1007/s11910-013-0364-1. Curr Neurol Neurosci Rep. 2013. PMID: 23793931 Review.

3

Exome sequencing as a diagnostic tool for pediatric-onset ataxia.

Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Warman Chardon J, Yoon G, Rouleau GA, Suchowersky O, Siu V, Murphy L, Hegele RA, Marshall CR; FORGE Canada Consortium; Bulman DE, Majewski J, Tarnopolsky M, Boycott KM. Sawyer SL, et al. Hum Mutat. 2014 Jan;35(1):45-9. doi: 10.1002/humu.22451. Hum Mutat. 2014. PMID: 24108619 Free PMC article.

4

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.

McDonell LM, Warman Chardon J, Schwartzentruber J, Foster D, Beaulieu CL; FORGE Canada Consortium; Majewski J, Bulman DE, Boycott KM. McDonell LM, et al. BMC Neurol. 2014 Jan 31;14:22. doi: 10.1186/1471-2377-14-22. BMC Neurol. 2014. PMID: 24479948 Free PMC article.

5

Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies.

Myers KA, Warman Chardon J, Huang L, Boycott KM. Myers KA, et al. Am J Med Genet A. 2014 Dec;164A(12):3209-12. doi: 10.1002/ajmg.a.36771. Epub 2014 Sep 23. Am J Med Genet A. 2014. PMID: 25251419 No abstract available.

6

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium; Majewski J, Boycott KM. Sawyer SL, et al. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Clin Genet. 2016. PMID: 26283276 Free PMC article. Review.

7

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.

Warman Chardon J, Beaulieu C, Hartley T, Boycott KM, Dyment DA. Warman Chardon J, et al. Curr Neurol Neurosci Rep. 2015 Sep;15(9):64. doi: 10.1007/s11910-015-0584-7. Curr Neurol Neurosci Rep. 2015. PMID: 26289954 Review.

8

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.

Kernohan KD, Cigana Schenkel L, Huang L, Smith A, Pare G, Ainsworth P; Care4Rare Canada Consortium; Boycott KM, Warman-Chardon J, Sadikovic B. Kernohan KD, et al. Clin Epigenetics. 2016 Sep 5;8(1):91. doi: 10.1186/s13148-016-0254-x. eCollection 2016. Clin Epigenetics. 2016. PMID: 27602171 Free PMC article.

9

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Chrestian N, Dupré N, Gan-Or Z, Szuto A, Chen S, Venkitachalam A, Brisson JD, Warman-Chardon J, Ahmed S, Ashtiani S, MacDonald H, Mohsin N, Mourabit-Amari K, Provencher P, Boycott KM, Stavropoulos DJ, Dion PA, Ray PN, Suchowersky O, Rouleau GA, Yoon G. Chrestian N, et al. Neurol Genet. 2016 Dec 5;3(1):e122. doi: 10.1212/NXG.0000000000000122. eCollection 2017 Feb. Neurol Genet. 2016. PMID: 27957547 Free PMC article.

10

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

Kernohan KD, Frésard L, Zappala Z, Hartley T, Smith KS, Wagner J, Xu H, McBride A, Bourque PR, Consortium CRC, Bennett SAL, Dyment DA, Boycott KM, Montgomery SB, Warman Chardon J. Kernohan KD, et al. Hum Mutat. 2017 Jun;38(6):611-614. doi: 10.1002/humu.23211. Epub 2017 Mar 28. Hum Mutat. 2017. PMID: 28251733 Free PMC article.

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