Detalhe da pesquisa
1.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Am J Hum Genet
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38776926
2.
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Am J Hum Genet
; 106(2): 272-279, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004445
3.
Genetic risk for Huntington Disease and reproductive decision-making: A systematic review.
Clin Genet
; 104(2): 147-162, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37095632
4.
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Am J Med Genet C Semin Med Genet
; 181(4): 502-508, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31479583
5.
27 years of prenatal diagnosis for Huntington disease in the United Kingdom.
Genet Med
; 21(7): 1639-1643, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30546084
6.
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Genet Med
; 21(9): 2059-2069, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923367
7.
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Clin Genet
; 95(6): 693-703, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30859559
8.
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Genet Med
; 20(1): 42-54, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28617417
9.
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
Am J Med Genet B Neuropsychiatr Genet
; 177(1): 35-39, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29095566
10.
Increased central microglial activation associated with peripheral cytokine levels in premanifest Huntington's disease gene carriers.
Neurobiol Dis
; 83: 115-21, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26297319
11.
HTT-lowering reverses Huntington's disease immune dysfunction caused by NFκB pathway dysregulation.
Brain
; 137(Pt 3): 819-33, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24459107
12.
Hsa-miR-34b is a plasma-stable microRNA that is elevated in pre-manifest Huntington's disease.
Hum Mol Genet
; 20(11): 2225-37, 2011 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21421997
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.
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
medRxiv
; 2023 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37745552
15.
Corrigendum to "Increased central microglial activation associated with peripheral cytokine levels in premanifest Huntington's disease gene carriers" [Neurobiol. Dis. 83 (2015) 115-121].
Neurobiol Dis
; 98: 162, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27939917
16.
Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK.
Eur J Med Genet
; 65(10): 104592, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35964932
17.
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.
Eur J Hum Genet
; 30(3): 291-297, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34897289
18.
Diagnostic genetic testing for Huntington's disease.
Pract Neurol
; 15(1): 80-4, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25169240
19.
First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood.
Neuromuscul Disord
; 30(7): 566-571, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32522502
20.
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Commun Biol
; 3(1): 180, 2020 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32313182