Detalhe da pesquisa
1.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet
; 111(5): 863-876, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565148
2.
Genome Sequencing for Diagnosing Rare Diseases.
N Engl J Med
; 390(21): 1985-1997, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38838312
3.
Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies.
Am J Physiol Renal Physiol
; 326(5): F780-F791, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38482553
4.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Am J Hum Genet
; 108(2): 357-367, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508234
5.
Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.
Pediatr Nephrol
; 39(2): 455-461, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37670083
6.
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
Am J Hum Genet
; 107(6): 1113-1128, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232676
7.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Am J Hum Genet
; 107(4): 727-742, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891193
8.
Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life.
Acta Paediatr
; 112(6): 1324-1332, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36847718
9.
Inhibition of endoplasmic reticulum stress signaling rescues cytotoxicity of human apolipoprotein-L1 risk variants in Drosophila.
Kidney Int
; 101(6): 1216-1231, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35120995
10.
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
Am J Hum Genet
; 104(5): 994-1006, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31051115
11.
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Genet Med
; 24(2): 307-318, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906515
12.
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.
J Am Soc Nephrol
; 32(3): 580-596, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33593823
13.
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
Am J Med Genet A
; 185(12): 3784-3792, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34338422
14.
Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice.
J Am Soc Nephrol
; 30(3): 393-405, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30737270
15.
TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.
J Am Soc Nephrol
; 30(12): 2338-2353, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31732614
16.
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
J Am Soc Nephrol
; 30(2): 201-215, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30655312
17.
Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout.
Kidney Int
; 95(5): 1079-1090, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31010479
18.
Monogenic causes of chronic kidney disease in adults.
Kidney Int
; 95(4): 914-928, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773290
19.
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
Hum Genet
; 138(10): 1105-1115, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230195
20.
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.
Nephrol Dial Transplant
; 34(3): 485-493, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29534211