Detalhe da pesquisa
1.
An interactive atlas of three-dimensional syndromic facial morphology.
Am J Hum Genet;
111(1): 39-47, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38181734
2.
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.
Am J Hum Genet;
109(11): 1947-1959, 2022 11 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36332610
3.
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
Am J Med Genet A;
194(3): e63466, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37949664
4.
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
5.
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
6.
The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence.
Genet Med;
24(3): 694-702, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34906497
7.
The developmental-genetics of canalization.
Semin Cell Dev Biol;
88: 67-79, 2019 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29782925
8.
(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada.
Genet Med;
23(2): 272-279, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32989270
9.
Automated syndrome diagnosis by three-dimensional facial imaging.
Genet Med;
22(10): 1682-1693, 2020 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32475986
10.
Prevalence rates study of selected isolated non-Mendelian congenital anomalies in the Hutterite population of Alberta, 1980-2016.
Am J Med Genet A;
182(11): 2594-2604, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32893972
11.
Fully Automatic Landmarking of Syndromic 3D Facial Surface Scans Using 2D Images.
Sensors (Basel);
20(11)2020 Jun 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32503190
12.
Correction: The value of diagnostic testing for parents of children with rare genetic diseases.
Genet Med;
21(11): 2662, 2019 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31316168
13.
The value of diagnostic testing for parents of children with rare genetic diseases.
Genet Med;
21(12): 2798-2806, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31239560
14.
Maternal exposure to arsenic and mercury in small-scale gold mining areas of Northern Tanzania.
Environ Res;
173: 432-442, 2019 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30974369
15.
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
16.
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
17.
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
18.
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
19.
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
20.
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.
Am J Hum Genet;
94(6): 809-17, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24906018