Detalhe da pesquisa
1.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
; 385(20): 1868-1880, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34758253
2.
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Brain
; 146(7): 2869-2884, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36624280
3.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Brain
; 146(7): 2723-2729, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797998
4.
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.
Bioinformatics
; 35(22): 4754-4756, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31134279
5.
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.
Genet Med
; 20(8): 882-889, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29446767
6.
Molecular evidence for the inverse comorbidity between central nervous system disorders and cancers detected by transcriptomic meta-analyses.
PLoS Genet
; 10(2): e1004173, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24586201
7.
Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.
Clin Genet
; 99(3): 481-483, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33226119
8.
ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data.
Nucleic Acids Res
; 41(Database issue): D142-51, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23143107
9.
A new overgrowth syndrome is due to mutations in RNF125.
Hum Mutat
; 35(12): 1436-41, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25196541
10.
A common structural scaffold in CTD phosphatases that supports distinct catalytic mechanisms.
Proteins
; 82(1): 103-18, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23900790
11.
Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population.
Brain Commun
; 5(5): fcad244, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37810464
12.
POPULATION FREQUENCY OF REPEAT EXPANSIONS INDICATES INCREASED DISEASE PREVALENCE ESTIMATES ACROSS DIFFERENT POPULATIONS.
medRxiv
; 2023 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37461547
13.
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability.
medRxiv
; 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37205357
14.
Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.
Genet Med
; 19(11): 1285-1286, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28640240
15.
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Lancet Neurol
; 21(3): 234-245, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35182509
16.
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.
Genome Med
; 14(1): 84, 2022 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948990
17.
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.
Commun Biol
; 4(1): 392, 2021 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33758299
18.
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
BMJ
; 375: e066288, 2021 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34732400
19.
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Neuron
; 109(3): 448-460.e4, 2021 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33242422
20.
Neuronal intranuclear inclusion disease is genetically heterogeneous.
Ann Clin Transl Neurol
; 7(9): 1716-1725, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32777174