Detalhe da pesquisa
1.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Am J Hum Genet
; 111(4): 742-760, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479391
2.
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).
J Med Genet
; 60(6): 523-532, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36822643
3.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586838
4.
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
5.
Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome.
Haematologica
; 107(4): 887-898, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34092059
6.
Further clinical delineation of microcephaly-capillary malformation syndrome.
Am J Med Genet A
; 188(11): 3350-3357, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35962715
7.
Neurodevelopmental functioning in probands and non-proband carriers of 22q11.2 microduplication.
Am J Med Genet A
; 188(10): 2999-3008, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899837
8.
Genetic and metabolic investigations for individuals with neurodevelopmental disorders: A survey of Canadian geneticists' practices.
Am J Med Genet A
; 185(6): 1757-1766, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33720531
9.
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges.
Am J Med Genet A
; 185(10): 3129-3135, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34159711
10.
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
11.
Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.
Clin Genet
; 95(5): 601-606, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30790272
12.
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Hum Mutat
; 39(5): 666-675, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330883
13.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Genet Med
; 20(4): 435-443, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771251
14.
Assessing the accuracy of the Modified Checklist for Autism in Toddlers: a systematic review and meta-analysis.
Dev Med Child Neurol
; 60(11): 1093-1100, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29992541
15.
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
Hum Mol Genet
; 24(11): 3172-80, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25701870
16.
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Hum Mol Genet
; 24(20): 5697-710, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26206890
17.
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.
Am J Med Genet A
; 173(11): 3082-3086, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28980384
18.
Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Am J Med Genet A
; 173(2): 395-406, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27759917
19.
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Hum Mol Genet
; 23(10): 2752-68, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24381304
20.
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
Am J Hum Genet
; 93(2): 249-63, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23849776