Detalhe da pesquisa
1.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet
; 109(10): 1867-1884, 2022 10 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36130591
2.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37580113
3.
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
Inglês
| MEDLINE | ID: mdl-37924259
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
Inglês
| MEDLINE | ID: mdl-36353900
5.
The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability.
Genet Med
; 24(2): 430-438, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34906486
6.
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
Hum Mutat
; 42(7): 862-876, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33942433
7.
SCYL1 disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of SCYL1.
Am J Med Genet A
; 185(4): 1091-1097, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33442927
8.
NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.
Am J Med Genet A
; 179(5): 837-841, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30773799
9.
The Nose Knows or Does it? Olfactory Reference Syndrome in Patients Presenting for Assessment of Unusual Body Odor.
J Nerv Ment Dis
; 207(3): 145-151, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30720598
10.
Psychiatric disorders in Ehlers-Danlos syndrome are frequent, diverse and strongly associated with pain.
Rheumatol Int
; 36(3): 341-8, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26433894
11.
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Eur J Hum Genet
; 2024 May 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38778082
12.
Dystonia with myoclonus and vertical supranuclear gaze palsy associated with a rare GNB1 variant.
Parkinsonism Relat Disord
; 106: 105239, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36521323
13.
PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications.
Neuromuscul Disord
; 32(10): 842-844, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36210261
14.
The genetic basis of evolution, adaptation and speciation.
Mol Ecol
; 20(24): 5119-22, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-22066839
15.
Isolated Dystonia as an Initial Presentation of GDAP2-Related Disorder.
Mov Disord Clin Pract
; 10(4): 710-712, 2023 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-37070050
16.
Identification of genetically linked female preference and male trait.
Evolution
; 67(8): 2155-65, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-23888842
17.
Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation.
Child Neurol Open
; 5: 2329048X18787946, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30151416