Detalhe da pesquisa
1.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Am J Hum Genet
; 108(5): 929-941, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811806
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.
Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66-year-old man.
Am J Med Genet C Semin Med Genet
; 193(2): 188-192, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37226647
4.
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.
Hum Genet
; 142(11): 1571-1586, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37755482
5.
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
6.
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.
Am J Med Genet A
; 191(2): 510-517, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36401557
7.
Value of a café-au-lait macules screening clinic: Experience from The Hospital for Sick Children in Toronto.
Pediatr Dermatol
; 39(2): 205-210, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35178768
8.
Unique retinal signaling defect in GNB5-related disease.
Doc Ophthalmol
; 140(3): 273-277, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31720979
9.
A novel ENPP1 mutation identified in a multigenerational family affected by Cole disease.
Pediatr Dermatol
; 37(5): 868-871, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32598042
10.
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Genet Med
; 21(9): 2081-2091, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30837697
11.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275510
12.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190611
13.
Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease.
Am J Med Genet A
; 179(4): 663-667, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30803154
14.
The epileptology of GNB5 encephalopathy.
Epilepsia
; 60(11): e121-e127, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31631344
15.
Unraveling incontinentia pigmenti: A comparison of phenotype and genotype variants.
J Am Acad Dermatol
; 81(5): 1142-1149, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905793
16.
Osteofibrous Dysplasia of the Tibia in Children: Outcome Without Resection.
J Pediatr Orthop
; 39(8): e614-e621, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31393304
17.
Recessive osteogenesis imperfecta caused by missense mutations in SPARC.
Am J Hum Genet
; 96(6): 979-85, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26027498
18.
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
Am J Hum Genet
; 97(4): 608-15, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365341
19.
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.
Am J Hum Genet
; 97(6): 837-47, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637977
20.
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.
Am J Med Genet A
; 176(2): 399-403, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29193829