Detalhe da pesquisa
1.
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Genet Med
; 26(6): 101119, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38465576
2.
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Genet Med
; 25(9): 100897, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37191094
3.
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
J Med Genet
; 59(6): 571-578, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875564
4.
De novo variants in MPP5 cause global developmental delay and behavioral changes.
Hum Mol Genet
; 29(20): 3388-3401, 2020 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073849
5.
When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families.
Clin Genet
; 97(6): 835-843, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32162313
6.
Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada.
Brain
; 147(5): e43-e44, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38366260
7.
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
Am J Hum Genet
; 97(6): 862-8, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26608784
8.
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Genet Med
; 20(3): 294-302, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28726806
9.
Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.
Am J Med Genet A
; 176(11): 2487-2493, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244537
10.
Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies.
J Obstet Gynaecol Can
; 40(11): 1417-1423, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30473118
11.
The LIM-homeodomain transcription factor Islet2a promotes angioblast migration.
Dev Biol
; 414(2): 181-92, 2016 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27126199
12.
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
Am J Hum Genet
; 95(5): 602-10, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439727
13.
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
Am J Hum Genet
; 95(2): 227-34, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25105227
14.
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
Am J Med Genet A
; 173(3): 596-600, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27671926
15.
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Am J Hum Genet
; 93(1): 181-90, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23830518
16.
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.
Am J Med Genet A
; 170(3): 760-5, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26691894
17.
Comparative analysis of genes regulated by Dzip1/iguana and hedgehog in zebrafish.
Dev Dyn
; 244(2): 211-23, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25476803
18.
The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved.
Am J Med Genet A
; 161A(11): 2855-9, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24108658
19.
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
Am J Hum Genet
; 84(6): 728-39, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19463982
20.
Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.
Am J Med Genet A
; 173(5): 1452, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371264