Bernier FP - Search Results

1

IMPACT webinars: Improving Patient Access to genetic Counselling and Testing using webinars-the Alberta experience with hypertrophic cardiomyopathy.

Christian S, Tagoe J, Delday L, Bernier FP, Kohut R, Ferrier R. Christian S, et al. Among authors: bernier fp. J Community Genet. 2022 Feb;13(1):81-89. doi: 10.1007/s12687-021-00564-x. Epub 2021 Nov 11. J Community Genet. 2022. PMID: 34766249 Free PMC article.

2

[No title available]

[No authors listed] [No authors listed] PMID: 34786028

3

Early Death of 2 Siblings Related to Mutations in LMOD2, a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy.

Greenway SC, Fruitman D, Ferrier R, Huculak C, Marcadier J, Sergi C, Bernier FP. Greenway SC, et al. Among authors: bernier fp. CJC Open. 2021 Aug 1;3(10):1300-1302. doi: 10.1016/j.cjco.2021.07.017. eCollection 2021 Oct. CJC Open. 2021. PMID: 34888509 Free PMC article.

4

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: bernier fp. 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.

5

(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada.

Michaels-Igbokwe C, McInnes B, MacDonald KV, Currie GR, Omar F, Shewchuk B, Bernier FP, Marshall DA. Michaels-Igbokwe C, et al. Among authors: bernier fp. Genet Med. 2021 Feb;23(2):272-279. doi: 10.1038/s41436-020-00975-0. Epub 2020 Sep 29. Genet Med. 2021. PMID: 32989270 Free article.

6

Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.

Mosca SJ, Langevin LM, Dewey D, Innes AM, Lionel AC, Marshall CC, Scherer SW, Parboosingh JS, Bernier FP. Mosca SJ, et al. Among authors: bernier fp. J Med Genet. 2016 Dec;53(12):812-819. doi: 10.1136/jmedgenet-2016-103818. Epub 2016 Aug 3. J Med Genet. 2016. PMID: 27489308

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: bernier fp. Genet Med. 2019 Nov;21(11):2662. doi: 10.1038/s41436-019-0615-x. Genet Med. 2019. PMID: 31316168 Free article.

8

Prevalence rates study of selected isolated non-Mendelian congenital anomalies in the Hutterite population of Alberta, 1980-2016.

Lowry RB, Bedard T, Crawford S, Grevers X, Bernier FP, Thomas MA. Lowry RB, et al. Among authors: bernier fp. Am J Med Genet A. 2020 Nov;182(11):2594-2604. doi: 10.1002/ajmg.a.61834. Epub 2020 Sep 7. Am J Med Genet A. 2020. PMID: 32893972

9

Two pairs of male monozygotic twins discordant for Wiedemann-Beckwith syndrome.

Leonard NJ, Bernier FP, Rudd N, Machin GA, Bamforth F, Bamforth S, Grundy P, Johnson C. Leonard NJ, et al. Among authors: bernier fp. Am J Med Genet. 1996 Jan 22;61(3):253-7. doi: 10.1002/(SICI)1096-8628(19960122)61:3<253::AID-AJMG9>3.0.CO;2-V. Am J Med Genet. 1996. PMID: 8741870

10

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H; FORGE Canada Consortium; Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS. Bernier FP, et al. Am J Hum Genet. 2012 May 4;90(5):925-33. doi: 10.1016/j.ajhg.2012.04.004. Epub 2012 Apr 26. Am J Hum Genet. 2012. PMID: 22541558 Free PMC article.

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