Detalhe da pesquisa
1.
Next generation of free? Points to consider when navigating sponsored genetic testing.
J Med Genet
; 61(4): 299-304, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37932018
2.
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
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.
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.
J Med Genet
; 59(10): 931-937, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34544840
5.
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Genet Med
; 24(6): 1227-1237, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35300924
6.
Delineating the expanding phenotype of HERC2-related disorders: The impact of biallelic loss of function versus missense variation.
Clin Genet
; 100(5): 637-640, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34370298
7.
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
8.
Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures.
Am J Med Genet A
; 170(12): 3227-3230, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27500688
9.
Prenatal Array Comparative Genomic Hybridization in Fetuses With Structural Cardiac Anomalies.
J Obstet Gynaecol Can
; 38(7): 619-26, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27591345
10.
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
J Am Soc Nephrol
; 25(10): 2366-75, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700880
11.
A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: a case report.
Am J Med Genet A
; 164A(9): 2385-7, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24924433
12.
Choosing Wisely Canada: The Canadian College of Medical Geneticists' (CCMG) list of five items physicians and patients should question.
J Med Genet
; 55(2): 86-88, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28822975
13.
Burosumab for the treatment of cutaneous-skeletal hypophosphatemia syndrome.
Bone Rep
; 20: 101725, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38229908
14.
Role of comprehensive cytogenomic investigation in successful reproductive outcome of parental small neocentromeric supernumerary ring chromosome: A case report.
Clin Case Rep
; 11(4): e6632, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37102101
15.
From "ACAN" to "I CAN": Restoring wellness in a boy with severe osteochondritis dissecans through diagnostic precision combined with optimal medical, surgical and rehabilitation management.
Bone Rep
; 18: 101663, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36950254
16.
Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant.
Prenat Diagn
; 37(12): 1254-1256, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29072330
17.
Expanding the clinical spectrum of autosomal-recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature.
Mol Genet Genomic Med
; 10(5): e1920, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35286024
18.
Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.
Genes (Basel)
; 13(11)2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36360262
19.
Germline AGO2 mutations impair RNA interference and human neurological development.
Nat Commun
; 11(1): 5797, 2020 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33199684
20.
Bilateral congenital lumbar hernias in a patient with central core disease--A case report.
Neuromuscul Disord
; 26(1): 56-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26684984