Detalhe da pesquisa
1.
Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.
Muscle Nerve
; 68(6): 833-840, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37789688
2.
Pediatric Myelodysplastic Syndrome With Germline RRAS Mutation: Expanding the Phenotype of RASopathies.
J Pediatr Hematol Oncol
; 43(4): e517-e520, 2021 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32815881
3.
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Hum Mutat
; 40(9): 1373-1391, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31322791
4.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat
; 40(7): 908-925, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817854
5.
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.
Genet Med
; 21(10): 2199-2207, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30894705
6.
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.
Genet Med
; 20(11): 1468-1471, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29565416
7.
Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.
Am J Med Genet A
; 167A(5): 931-73, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25790323
8.
Clinical Cytogenetics: Current Practices and Beyond.
J Appl Lab Med
; 9(1): 61-75, 2024 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38167757
9.
Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review.
Front Genet
; 14: 1298574, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38304066
10.
Chemical characterization of pro-inflammatory amyloid-beta peptides in human atherosclerotic lesions and platelets.
Biochim Biophys Acta
; 1812(11): 1508-14, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21784149
11.
Early autophagic response in a novel knock-in model of Huntington disease.
Hum Mol Genet
; 19(19): 3702-20, 2010 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20616151
12.
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
Cold Spring Harb Mol Case Stud
; 8(2)2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091509
13.
A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties.
J Mol Diagn
; 24(9): 1031-1040, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718094
14.
Macrophage-mediated degradation of beta-amyloid via an apolipoprotein E isoform-dependent mechanism.
J Neurosci
; 29(11): 3603-12, 2009 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-19295164
15.
Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy.
F1000Res
; 6: 1636, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29034082
16.
Verification of somatic CAG repeat expansion by pre-PCR fractionation.
J Neurosci Methods
; 144(1): 11-7, 2005 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15848234
17.
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.
Mol Genet Genomic Med
; 3(4): 283-301, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26247046
18.
Mouse Huntington's disease homolog mRNA levels: variation and allele effects.
Gene Expr
; 11(5-6): 221-31, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15200234
19.
Neurochemical profile of dementia pugilistica.
J Neurotrauma
; 30(11): 981-97, 2013 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23268705
20.
Morphological and pathological evolution of the brain microcirculation in aging and Alzheimer's disease.
PLoS One
; 7(5): e36893, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22615835