Search details
1.
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
; 583(7814): 96-102, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32581362
2.
Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort.
Lancet
; 403(10433): 1279-1289, 2024 Mar 30.
Article
in English
| MEDLINE | ID: mdl-38492578
3.
A Neanderthal haplotype introgressed into the human genome confers protection against membranous nephropathy.
Kidney Int
; 105(4): 791-798, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38367960
4.
Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease.
Kidney Int
; 104(5): 975-984, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37414395
5.
Segregation analysis identifies specific alpha-defensin (DEFA1A3) SNP-CNV haplotypes in predisposition to IgA nephropathy.
Ann Hum Genet
; 87(1-2): 1-8, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36214424
6.
Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome.
Pediatr Nephrol
; 38(6): 1793-1800, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36357634
7.
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.
Ann Hum Genet
; 86(3): 145-152, 2022 05.
Article
in English
| MEDLINE | ID: mdl-34888854
8.
Identification of a novel genetic locus associated with immune-mediated thrombotic thrombocytopenic purpura.
Haematologica
; 107(3): 574-582, 2022 03 01.
Article
in English
| MEDLINE | ID: mdl-33596643
9.
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
J Am Soc Nephrol
; 32(9): 2273-2290, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34400539
10.
Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation.
Int J Mol Sci
; 23(2)2022 Jan 17.
Article
in English
| MEDLINE | ID: mdl-35055171
11.
The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy.
J Biol Chem
; 295(48): 16342-16358, 2020 11 27.
Article
in English
| MEDLINE | ID: mdl-32928961
12.
Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.
J Am Soc Nephrol
; 31(2): 365-373, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31919107
13.
Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy.
Kidney Int
; 97(6): 1260-1274, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32386968
14.
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.
Kidney Int
; 98(3): 717-731, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32450155
15.
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
J Immunol
; 200(7): 2464-2478, 2018 04 01.
Article
in English
| MEDLINE | ID: mdl-29500241
16.
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.
PLoS Genet
; 13(3): e1006620, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28267784
17.
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.
J Am Soc Nephrol
; 30(8): 1375-1384, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31263063
18.
Atypical haemolytic uraemic syndrome in the eculizumab era: presentation, response to treatment and evaluation of an eculizumab withdrawal strategy.
Br J Haematol
; 186(1): 113-124, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30916388
19.
First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis.
Clin Sci (Lond)
; 133(1): 9-21, 2019 01 15.
Article
in English
| MEDLINE | ID: mdl-30523047
20.
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Pediatr Nephrol
; 34(7): 1175-1189, 2019 07.
Article
in English
| MEDLINE | ID: mdl-29987460