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1.
Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA.
Am J Hum Genet
; 110(11): 1903-1918, 2023 11 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-37816352
2.
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
Am J Med Genet A
; 188(3): 959-964, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34904380
3.
Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.
J Med Genet
; 57(12): 859-862, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32303606
4.
Meta-analysis of 16S rRNA Microbial Data Identified Distinctive and Predictive Microbiota Dysbiosis in Colorectal Carcinoma Adjacent Tissue.
mSystems
; 5(2)2020 Apr 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-32291348
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