Detalhe da pesquisa
1.
BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.
Nat Immunol
; 18(7): 813-823, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28530713
2.
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
J Med Genet
; 61(3): 232-238, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37813462
3.
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
4.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med
; 25(1): 76-89, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331550
5.
Despite genetic isolation in sympatry, post-copulatory reproductive barriers have not evolved between bat- and human-associated common bedbugs (Cimex lectularius L.).
Front Zool
; 20(1): 36, 2023 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37950221
6.
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Am J Hum Genet
; 104(4): 721-730, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929742
7.
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
Genet Med
; 24(12): 2487-2500, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36136088
8.
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Ann Neurol
; 89(6): 1240-1247, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704825
9.
Genome-Wide Association Study Identifies Risk Loci for Cluster Headache.
Ann Neurol
; 90(2): 193-202, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34184781
10.
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.
J Neurol Neurosurg Psychiatry
; 93(1): 48-56, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34518334
11.
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders.
Mov Disord
; 36(1): 251-255, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33026126
12.
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders.
Brain
; 143(9): 2771-2787, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32889528
13.
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
Am J Hum Genet
; 100(6): 969-977, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575651
14.
Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences.
Brief Bioinform
; 19(2): 286-302, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27881428
15.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Ann Neurol
; 86(2): 225-240, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31187503
16.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol
; 139(3): 415-442, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31820119
17.
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Brain
; 142(10): 2948-2964, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501903
18.
Prevalence of familial cluster headache: a systematic review and meta-analysis.
J Headache Pain
; 21(1): 37, 2020 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32334514
19.
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Am J Hum Genet
; 99(5): 1005-1014, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745832
20.
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.
Hum Mutat
; 39(2): 187-192, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29127725