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1.
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.
Article
in English
| MEDLINE | ID: mdl-33508234
2.
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
J Am Soc Nephrol
; 34(2): 273-290, 2023 02 01.
Article
in English
| MEDLINE | ID: mdl-36414417
3.
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
Am J Hum Genet
; 107(6): 1113-1128, 2020 12 03.
Article
in English
| MEDLINE | ID: mdl-33232676
4.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Am J Hum Genet
; 107(4): 727-742, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-32891193
5.
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Genet Med
; 24(2): 307-318, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34906515
6.
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.
J Am Soc Nephrol
; 32(3): 580-596, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33593823
7.
Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans.
Nephrol Dial Transplant
; 36(2): 237-246, 2021 01 25.
Article
in English
| MEDLINE | ID: mdl-33097957
8.
TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.
J Am Soc Nephrol
; 30(12): 2338-2353, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31732614
9.
Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs.
Nat Commun
; 14(1): 2229, 2023 04 19.
Article
in English
| MEDLINE | ID: mdl-37076491
10.
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches.
Kidney Int Rep
; 6(2): 460-471, 2021 Feb.
Article
in English
| MEDLINE | ID: mdl-33615071
11.
Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome.
Kidney Int Rep
; 6(2): 472-483, 2021 Feb.
Article
in English
| MEDLINE | ID: mdl-33615072
12.
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
Sci Adv
; 7(1)2021 01.
Article
in English
| MEDLINE | ID: mdl-33523862
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