Search details
1.
Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.
Pancreatology
; 23(5): 507-511, 2023 Aug.
Article
in English
| MEDLINE | ID: mdl-37270400
2.
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.
Article
in English
| MEDLINE | ID: mdl-36273432
3.
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.
Article
in English
| MEDLINE | ID: mdl-35621276
4.
Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.
Blood Cells Mol Dis
; 87: 102527, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33341511
5.
Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.
Transfusion
; 61(8): 2468-2476, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34110623
6.
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.
Article
in English
| MEDLINE | ID: mdl-32161152
7.
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.
Article
in English
| MEDLINE | ID: mdl-34203920
8.
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
BMC Genomics
; 21(1): 86, 2020 Jan 28.
Article
in English
| MEDLINE | ID: mdl-31992191
9.
Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A.
FASEB J
; 33(12): 14625-14635, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31690120
10.
TIMP1 intron 3 retention is a marker of colon cancer progression controlled by hnRNPA1.
Mol Biol Rep
; 47(4): 3031-3040, 2020 Apr.
Article
in English
| MEDLINE | ID: mdl-32200451
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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-30002125
16.
Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements.
Nucleic Acids Res
; 44(6): 2564-76, 2016 Apr 07.
Article
in English
| MEDLINE | ID: mdl-26615198
17.
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.
Article
in English
| MEDLINE | ID: mdl-31863589
18.
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
Hum Mol Genet
; 23(17): 4479-90, 2014 Sep 01.
Article
in English
| MEDLINE | ID: mdl-24714983
19.
A novel thrombopoietin (THPO) mutation altering mRNA splicing in a case of familial thrombocytosis.
Br J Haematol
; 190(2): e104-e107, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32430933
20.
Corrigendum: 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(21): 11656-11657, 2018 11 30.
Article
in English
| MEDLINE | ID: mdl-30321405