Detalhe da pesquisa
1.
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Genet Med
; 23(6): 1075-1085, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33580225
2.
ped_draw: pedigree drawing with ease.
BMC Bioinformatics
; 21(1): 569, 2020 Dec 09.
Artigo
Inglês
| MEDLINE | ID: mdl-33297934
3.
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia.
J Med Genet
; 55(12): 824-830, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30244195
4.
SON-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine: Putative Role of PRRT2.
Neurol Genet
; 9(3): e200062, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-37057295
5.
Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics.
J Pers Med
; 12(1)2022 Jan 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35055388
6.
Effective variant filtering and expected candidate variant yield in studies of rare human disease.
NPJ Genom Med
; 6(1): 60, 2021 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34267211
7.
Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.
Sci Rep
; 11(1): 20307, 2021 10 13.
Artigo
Inglês
| MEDLINE | ID: mdl-34645894
8.
gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.
medRxiv
; 2020 Nov 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33173897
9.
Genepanel.iobio - an easy to use web tool for generating disease- and phenotype-associated gene lists.
BMC Med Genomics
; 12(1): 190, 2019 12 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31829207
10.
Author Correction: Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.
Sci Rep
; 12(1): 5800, 2022 Apr 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35388139
11.
Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools.
J Clin Transl Sci
; 1(6): 381-386, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-29707261