Detalhe da pesquisa
1.
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Cell
; 177(1): 32-37, 2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30901545
2.
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Cell
; 172(5): 924-936.e11, 2018 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474920
3.
The expanding diagnostic toolbox for rare genetic diseases.
Nat Rev Genet
; 25(6): 401-415, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38238519
4.
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
N Engl J Med
; 388(2): 128-141, 2023 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36516086
5.
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.
Am J Hum Genet
; 109(11): 1947-1959, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36332610
6.
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Am J Hum Genet
; 109(10): 1923-1931, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067766
7.
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Hum Mol Genet
; 31(4): 614-624, 2022 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34542157
8.
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
Hum Mol Genet
; 31(21): 3597-3612, 2022 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35147173
9.
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Am J Hum Genet
; 108(10): 2017-2023, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34587489
10.
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Am J Hum Genet
; 108(4): 749-756, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33743206
11.
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.
J Hum Genet
; 69(2): 101-105, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37904029
12.
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.
Am J Med Genet A
; 194(3): e63455, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37921537
13.
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
Am J Med Genet A
; 194(3): e63466, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37949664
14.
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Am J Med Genet A
; 194(5): e63522, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38131126
15.
Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.
Hum Mol Genet
; 30(9): 739-757, 2021 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33601405
16.
New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.
Annu Rev Genomics Hum Genet
; 21: 351-372, 2020 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32283948
17.
Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.
Am J Hum Genet
; 107(6): 1178-1185, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33242396
18.
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Am J Hum Genet
; 106(2): 143-152, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32032513
19.
Precision medicine in rare diseases: What is next?
J Intern Med
; 294(4): 397-412, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37211972
20.
Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizations.
Genet Med
; 25(11): 100948, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551668