Detalhe da pesquisa
1.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Genet Med
; 26(2): 101012, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924259
2.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109418
3.
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Clin Genet
; 103(3): 288-300, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36353900
4.
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Am J Med Genet A
; 191(7): 1900-1910, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183572
5.
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
; 23(6): 1065-1074, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33547396
6.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genet Med
; 23(7): 1234-1245, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824499
7.
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants.
Am J Med Genet A
; 185(9): 2829-2845, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34056834
8.
Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience.
Can J Neurol Sci
; 48(2): 233-244, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32741404
9.
Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.
Genet Med
; 22(8): 1427, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32555415
10.
Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.
Genet Med
; 22(8): 1391-1400, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32366968
11.
Tatton-Brown-Rahman syndrome: Six individuals with novel features.
Am J Med Genet A
; 182(4): 673-680, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31961069
12.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 108(6): 1161-1163, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087165
13.
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Hum Mutat
; 39(5): 666-675, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330883
14.
The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.
Am J Med Genet C Semin Med Genet
; 178(4): 458-463, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30580481
15.
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome.
Am J Med Genet B Neuropsychiatr Genet
; 177(1): 101-109, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29152901
16.
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
; 23(11): 2228, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33637969
17.
A transgenic zebrafish model expressing KIT-D816V recapitulates features of aggressive systemic mastocytosis.
Br J Haematol
; 167(1): 48-61, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24989799
18.
The zebrafish reveals dependence of the mast cell lineage on Notch signaling in vivo.
Blood
; 119(15): 3585-94, 2012 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-22368273
19.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
J Clin Invest
; 134(1)2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37962958
20.
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Eur J Hum Genet
; 31(8): 905-917, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37188825