Detalhe da pesquisa
1.
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
Am J Hum Genet
; 110(7): 1068-1085, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37352860
2.
Accelerated epigenetic aging and DNA methylation alterations in Berardinelli-Seip congenital lipodystrophy.
Hum Mol Genet
; 32(11): 1826-1835, 2023 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36715159
3.
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Mol Genet Metab
; 141(3): 108118, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38244286
4.
Genetic predisposition to porto-sinusoidal vascular disorder: A functional genomic-based, multigenerational family study.
Hepatology
; 77(2): 501-511, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35989577
5.
A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects.
Clin Genet
; 105(2): 202-208, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37830462
6.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry
; 28(2): 668-697, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385166
7.
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.
Brain
; 146(5): 1844-1858, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36314052
8.
POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment.
Clin Immunol
; 251: 109326, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37030525
9.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med
; 25(1): 49-62, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322151
10.
BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling.
Am J Med Genet A
; 191(4): 923-929, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36565049
11.
Non-syndromic hypotrichosis: A report of two novel variants in the LSS gene.
Pediatr Dermatol
; 40(5): 960-961, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37029088
12.
A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature.
Neurogenetics
; 23(2): 85-90, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35041108
13.
Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1.
Neurobiol Dis
; 164: 105609, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34990802
14.
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Clin Genet
; 101(2): 247-254, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34708404
15.
Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review.
Eur J Neurol
; 29(8): 2486-2492, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35638367
16.
Three Complex alleles associated with N1303K mutation and their molecular consequences.
Cell Mol Biol (Noisy-le-grand)
; 68(4): 52-59, 2022 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35988290
17.
Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease.
Prenat Diagn
; 42(5): 589-600, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373843
18.
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.
Hum Mol Genet
; 28(14): 2378-2394, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31090908
19.
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Hum Mol Genet
; 28(6): 972-979, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30481285
20.
Genome sequencing in families with congenital limb malformations.
Hum Genet
; 140(8): 1229-1239, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34159400