Detalhe da pesquisa
1.
Noncoding deletions reveal a gene that is critical for intestinal function.
Nature
; 571(7763): 107-111, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31217582
2.
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
J Am Soc Nephrol
; 33(4): 732-745, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35149593
3.
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
J Am Soc Nephrol
; 29(7): 1849-1858, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29654216
4.
OVAS: an open-source variant analysis suite with inheritance modelling.
BMC Bioinformatics
; 19(1): 46, 2018 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29422027
5.
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Am J Hum Genet
; 96(6): 938-47, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25983243
6.
HaploForge: a comprehensive pedigree drawing and haplotype visualization web application.
Bioinformatics
; 33(24): 3871-3877, 2017 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28961780
7.
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
J Am Soc Nephrol
; 28(8): 2529-2539, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28373276
8.
Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.
Rheumatology (Oxford)
; 56(2): 209-213, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27150194
9.
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.
Am J Med Genet A
; 164A(7): 1777-83, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700531
10.
Eomes restricts Brachyury functions at the onset of mouse gastrulation.
Dev Cell
; 58(18): 1627-1642.e7, 2023 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37633271
11.
Delayed boosting improves human antigen-specific Ig and B cell responses to the RH5.1/AS01B malaria vaccine.
JCI Insight
; 8(2)2023 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36692019
12.
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).
Mol Genet Genomic Med
; 9(12): e1674, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811480
13.
Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy.
Kidney Int Rep
; 6(6): 1669-1676, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34169208
14.
A single-cell RNA-sequencing training and analysis suite using the Galaxy framework.
Gigascience
; 9(10)2020 10 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33079170
15.
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.
Orphanet J Rare Dis
; 12(1): 24, 2017 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28173822
16.
Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.
Mol Genet Genomic Med
; 4(5): 521-6, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27652280
17.
STAG3 truncating variant as the cause of primary ovarian insufficiency.
Eur J Hum Genet
; 24(1): 135-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26059840