Browse by UCL people
Group by: Type | Date
Number of items: 16.
Article
Chan, Melanie Mai Yee;
Sadeghi-Alavijeh, Omid;
Lopes, Filipa M;
Hilger, Alina C;
Stanescu, Horia C;
Voinescu, Catalin D;
Beaman, Glenda M;
... Gale, Daniel P; + view all
(2022)
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
eLife
, 11
, Article e74777. 10.7554/eLife.74777.
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Chan, Melanie MY;
Gale, Daniel P;
(2024)
Using genomics to understand severe COVID-19.
Nephrology Dialysis Transplantation
, 39
(5)
pp. 731-734.
10.1093/ndt/gfad262.
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Chan, Melanie MY;
Gale, Daniel P;
(2015)
Isolated microscopic haematuria of glomerular origin: clinical significance and diagnosis in the 21st century.
Clinical Medicine
, 15
(6)
pp. 576-580.
10.7861/clinmedicine.15-6-576.
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Chan, Melanie MY;
Sadeghi-Alavijeh, Omid;
Evans, Rhys DR;
Davenport, Andrew;
Nitsch, Dorothea;
(2025)
The future of nephrology in 2050.
Future Healthcare Journal
, 12
(1)
, Article 100236. 10.1016/j.fhj.2025.100236.
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Chan, MMY;
Barnicoat, A;
Mumtaz, F;
Aitchison, M;
Side, L;
Brittain, H;
Bates, AWH;
(2017)
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
BMC Medical Genetics
, 18
, Article 79. 10.1186/s12881-017-0436-1.
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Dixon, Peter H;
Levine, Adam P;
Cebola, Inês;
Chan, Melanie MY;
Amin, Aliya S;
Aich, Anshul;
Mozere, Monika;
... Williamson, Catherine; + view all
(2022)
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Nature Communications
, 13
, Article 4840. 10.1038/s41467-022-29931-z.
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Doctor, Gabriel T;
Gale, Daniel P;
Chan, Melanie My;
(2023)
Genomics in the kidney clinic.
Clinical Medicine Journal
, 23
(3)
pp. 246-249.
10.7861/clinmed.2023-RM2.
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Gale, Daniel P;
Chan, Melanie MY;
Sadeghi-Alavijeh, Omid;
(2025)
The Genomic Infinity Loop.
Journal of the American Society of Nephrology
10.1681/ASN.0000000922.
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Gibson, J;
Fieldhouse, R;
Chan, MMY;
Sadeghi-Alavijeh, O;
Burnett, L;
Izzi, V;
Persikov, AV;
... Savige, J; + view all
(2021)
Prevalence estimates of predicted pathogenic col4a3-col4a5 variants in a population sequencing database and their implications for alport syndrome.
Journal of the American Society of Nephrology
, 32
(9)
pp. 2273-2290.
10.1681/ASN.2020071065.
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Gibson, Joel T;
Huang, Mary;
Shenelli Croos Dabrera, Marina;
Shukla, Krushnam;
Rothe, Hansjörg;
Hilbert, Pascale;
Deltas, Constantinos;
... Savige, Judy; + view all
(2022)
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Scientific Reports
, 12
(1)
, Article 2722. 10.1038/s41598-022-06525-9.
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Levine, AP;
Chan, MMY;
Sadeghi-Alavijeh, O;
Wong, EKS;
Cook, HT;
Ashford, S;
Carss, K;
... Gale, DP; + view all
(2020)
Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.
Journal of the American Society of Nephrology
, 31
(1)
10.1681/ASN.2019040433.
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Mingardo, Enrico;
Beaman, Glenda;
Grote, Philip;
Nordenskjöld, Agneta;
Newman, William;
Woolf, Adrian S;
Eckstein, Markus;
... Reutter, Heiko; + view all
(2022)
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
Communications Biology
, 5
, Article 1203. 10.1038/s42003-022-04092-3.
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Sadeghi-Alavijeh, Omid;
Chan, Melanie MY;
Stanescu, Horia;
Gale, Daniel P;
Bockenhauer, Detlef;
(2025)
50 Shades of Risk: Population Studies and the Genetic Architecture of Kidney Diseases.
Journal of the American Society of Nephrology
10.1681/ASN.0000000893.
(In press).
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Viering, D;
Schlingmann, K-P;
Hureaux, M;
Nijenhuis, T;
Mallett, A;
Chan, MMY;
van Beek, A;
... de Baaij, J; + view all
(2021)
Gitelman-like syndrome caused by pathogenic variants in mtDNA.
Journal of the American Society of Nephrology : JASN
(In press).
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Viering, DHHM;
Chan, MMY;
Hoogenboom, L;
Iancu, D;
de Baaij, JHF;
Tullus, K;
Kleta, R;
(2020)
Genetics of renovascular hypertension in children.
Journal of Hypertension
, 38
(10)
pp. 1964-1970.
10.1097/HJH.0000000000002491.
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Thesis
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Chan, Melanie;
(2022)
The Genetic Architecture of Structural Renal and Urinary Tract Malformations.
Doctoral thesis (Ph.D), UCL (University College London).
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