Detalhe da pesquisa
1.
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.
Hum Genomics
; 18(1): 21, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38414044
2.
Expanding ACMG variant classification guidelines into a general framework.
Hum Genomics
; 16(1): 31, 2022 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35974416
3.
Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.
Pancreatology
; 23(5): 507-511, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37270400
4.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Hum Mutat
; 43(12): 2308-2323, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273432
5.
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
J Inherit Metab Dis
; 45(5): 996-1012, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35621276
6.
Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.
Blood Cells Mol Dis
; 87: 102527, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33341511
7.
Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.
Transfusion
; 61(8): 2468-2476, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34110623
8.
Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility.
J Med Genet
; 57(10): 708-716, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32161152
9.
Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue.
Int J Mol Sci
; 22(12)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203920
10.
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
BMC Genomics
; 21(1): 86, 2020 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992191
11.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(15): 7913-7923, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750258
12.
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.
Hum Mutat
; 40(10): 1856-1873, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131953
13.
Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype.
Transfusion
; 59(4): 1367-1375, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30811032
14.
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
Clin Genet
; 103(3): 377-379, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36444497
15.
The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.
Haematologica
; 103(11): 1796-1805, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30002125
16.
Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study.
BMC Pregnancy Childbirth
; 18(1): 53, 2018 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29454332
17.
Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements.
Nucleic Acids Res
; 44(6): 2564-76, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26615198
18.
Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.
Gastroenterology
; 150(3): 672-683.e4, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26582087
19.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 48(3): 1600-1601, 2020 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31863589
20.
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
Hum Mol Genet
; 23(17): 4479-90, 2014 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24714983