Browse by UCL people
Group by: Type | Date
Number of items: 41.
Article
Abdelhadi, O;
Iancu, D;
Stanescu, H;
Kleta, R;
Bockenhauer, D;
(2016)
EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10.
Rare Diseases
, 4
(1)
, Article e1195043. 10.1080/21675511.2016.1195043.
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Abdelhadi, O;
Iancu, D;
Tekman, M;
Stanescu, H;
Bockenhauer, D;
Kleta, R;
(2016)
Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.
Molecular Genetics & Genomic Medicine
, 4
(5)
pp. 521-526.
10.1002/mgg3.227.
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Bacchelli, C;
Moretti, FA;
Carmo, M;
Adams, S;
Stanescu, HC;
Pearce, K;
Madkaikar, M;
... Gaspar, HB; + view all
(2017)
Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.
Journal of Allergy and Clinical Immunology
, 139
(2)
pp. 634-642.
10.1016/j.jaci.2016.05.036.
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Balogh, E;
Chandler, J;
Varga, M;
Tahoun, M;
Menyhárd, DK;
Schay, G;
Goncalves, T;
... Tory, K; + view all
(2020)
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proceedings of the National Academy of Sciences of the United States of America
, 117
(26)
pp. 15137-15147.
10.1073/pnas.2002328117.
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Bockenhauer, Detlef;
Stanescu, Horia;
(2025)
Distal renal tubular acidosis and WDR72: some answers, more questions.
Pediatric Nephrology
, 40
(2)
pp. 297-300.
10.1007/s00467-024-06504-4.
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Cabezas, OR;
Flanagan, S;
Stanescu, H;
Garcia-Martinez, E;
Caswell, R;
Lango-Allen, H;
Anton-Gamero, M;
... Bockenhauer, D; + view all
(2017)
Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in PMM2.
Journal of the American Society of Nephrology
, 28
(8)
pp. 2529-2539.
10.1681/ASN.2016121312.
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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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Downie, Mallory L;
Gupta, Sanjana;
Chan, Melanie MY;
Sadeghi-Alavijeh, Omid;
Cao, Jingjing;
Parekh, Rulan S;
Diz, Carmen Bugarin;
... Gale, Daniel P; + view all
(2023)
Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome.
Pediatric Nephrology
, 38
(6)
pp. 1793-1800.
10.1007/s00467-022-05789-7.
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Downie, ML;
Gupta, S;
Voinescu, C;
Levine, AP;
Sadeghi-Alavijeh, O;
Dufek-Kamperis, S;
Cao, J;
... Gale, DP; + view all
(2023)
Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome.
Kidney International Reports
10.1016/j.ekir.2023.05.018.
(In press).
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Downie, ML;
Gupta, S;
Tekman, MC;
Cheshire, C;
Arora, S;
Licht, C;
Robinson, LA;
... Kleta, R; + view all
(2021)
Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy.
Kidney International Reports
10.1016/j.ekir.2021.02.025.
(In press).
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Dufek, S;
Cheshire, C;
Levine, AP;
Trompeter, RS;
Issler, N;
Stubbs, M;
Mozere, M;
... Bockenhauer, D; + view all
(2019)
Genetic identification of two novel loci associated with steroid-sensitive nephrotic syndrome.
Journal of the American Society of Nephrology
, 30
(8)
pp. 1375-1384.
10.1681/ASN.2018101054.
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Gale, DP;
Molyneux, K;
Wimbury, D;
Higgins, P;
Levine, AP;
Caplin, B;
Ferlin, A;
... Barratt, J; + view all
(2017)
Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1.
J Am Soc Nephrol
, 28
(7)
pp. 2158-2166.
10.1681/ASN.2016091043.
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Gupta, S;
Köttgen, A;
Hoxha, E;
Brenchley, P;
Bockenhauer, D;
Stanescu, HC;
Kleta, R;
(2018)
Genetics of membranous nephropathy.
Nephrology Dialysis Transplantation
, 33
(9)
pp. 1493-1502.
10.1093/ndt/gfx296.
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Hamilton, P;
Blaikie, K;
Roberts, SA;
Gittins, M;
Downie, ML;
Gupta, S;
Voinescu, C;
... Brenchley, P; + view all
(2023)
Membranous nephropathy in the UK Biobank.
PLoS ONE
, 18
(4 April)
, Article e0281795. 10.1371/journal.pone.0281795.
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Islam, S;
Tekman, M;
Flanagan, SE;
Guay-Woodford, L;
Hussain, K;
Ellard, S;
Kleta, R;
... Iancu, D; + view all
(2021)
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).
Molecular Genetics & Genomic Medicine
, Article e1674. 10.1002/mgg3.1674.
(In press).
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Issler, Naomi;
Afonso, Sara;
Weissman, Irith;
Jordan, Katrin;
Cebrian-Serrano, Alberto;
Meindl, Katrin;
Dahlke, Eileen;
... Warth, Richard; + view all
(2022)
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Journal of the American Society of Nephrology
, 33
(4)
pp. 732-745.
10.1681/ASN.2021101312.
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Jaureguiberry, G;
De la Dure-Molla, M;
Parry, D;
Quentric, M;
Himmerkus, N;
Koike, T;
Poulter, J;
... Kleta, R; + view all
(2012)
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Nephron Physiology
, 122
(1-2)
1 - 6.
10.1159/000349989.
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Le Quesne Stabej, P;
James, C;
Ocaka, L;
Tekman, M;
Grunewald, S;
Clement, E;
Stanescu, HC;
... Bitner-Glindzicz, M; + view all
(2017)
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.
Orphanet Journal of Rare Diseases
, 12
, Article 24. 10.1186/s13023-017-0582-8.
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Le Quesne Stabej, P;
Williams, HJ;
James, C;
Tekman, M;
Stanescu, HC;
Kleta, R;
Ocaka, L;
... GOSgene; + view all
(2016)
STAG3 truncating variant as the cause of primary ovarian insufficiency.
European Journal of Human Genetics
, 24
(1)
pp. 135-138.
10.1038/ejhg.2015.107.
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Mencacci, NE;
Rubio-Agusti, I;
Zdebik, A;
Asmus, F;
Ludtmann, MH;
Ryten, M;
Plagnol, V;
... Wood, NW; + view all
(2015)
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Am J Hum Genet
, 96
(6)
pp. 938-947.
10.1016/j.ajhg.2015.04.008.
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Mozere, M;
Tekman, M;
Kari, J;
Bockenhauer, D;
Kleta, R;
Stanescu, H;
(2018)
OVAS: an open-source variant analysis suite with inheritance modelling.
BMC Bioinformatics
, 19
p. 46.
10.1186/s12859-018-2030-8.
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Oz-Levi, D;
Olender, T;
Bar-Joseph, I;
Zhu, Y;
Marek-Yagel, D;
Barozzi, I;
Osterwalder, M;
... Pennacchio, LA; + view all
(2019)
Noncoding deletions reveal a gene that is critical for intestinal function.
Nature
, 571
pp. 107-111.
10.1038/s41586-019-1312-2.
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Reichold, M;
Klootwijk, ED;
Reinders, J;
Otto, EA;
Milani, M;
Broeker, C;
Laing, C;
... Kleta, R; + view all
(2018)
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Journal of the American Society of Nephrology
, 29
(7)
pp. 1849-1858.
10.1681/ASN.2017111179.
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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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Sekula, P;
Li, Y;
Stanescu, HC;
Wuttke, M;
Ekici, AB;
Bockenhauer, D;
Walz, G;
... Koettgen, A; + view all
(2016)
Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies.
Nephrology Dialysis Transplantation
, 32
(2)
pp. 325-332.
10.1093/ndt/gfw001.
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Siitonen, M;
Börjesson-Hanson, A;
Pöyhönen, M;
Ora, A;
Pasanen, P;
Bras, J;
Kern, S;
... Louro Guerreiro, RJ; + view all
(2017)
Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.
[Letter].
Brain
, 140
(5)
, Article e29. 10.1093/brain/awx062.
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Standing, AS;
Hong, Y;
Paisan-Ruiz, C;
Omoyinmi, E;
Medlar, A;
Stanescu, H;
Kleta, R;
... Brogan, PA; + view all
(2020)
TRAP1 chaperone protein mutations and autoinflammation.
Life Science Alliance
, 3
(2)
, Article e201900376. 10.26508/lsa.201900376.
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Standing, ASI;
Malinova, D;
Hong, Y;
Record, J;
Moulding, D;
Blundell, MP;
Nowak, K;
... Brogan, PA; + view all
(2017)
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actinregulatory gene WDR1.
Journal of Experimental Medicine
, 214
(1)
pp. 59-71.
10.1084/jem.20161228.
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Stubbs, MJ;
Coppo, P;
Cheshire, C;
Veyradier, A;
Dufek, S;
Levine, AP;
Thomas, M;
... Scully, MA; + view all
(2021)
Identification of a novel genetic locus associated with immune mediated thrombotic thrombocytopenic purpura.
Haematologica
10.3324/haematol.2020.274639.
(In press).
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Tekman, M;
Medlar, A;
Mozere, M;
Kleta, R;
Stanescu, H;
(2017)
HaploForge: a comprehensive pedigree drawing and haplotype visualization web application.
Bioinformatics
, 33
(24)
pp. 3871-3877.
10.1093/bioinformatics/btx510.
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Vivante, A;
Mann, N;
Yonath, H;
Weiss, A-C;
Getwan, M;
Kaminski, MM;
Bohnenpoll, T;
... Hildebrandt, F; + view all
(2017)
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.
Journal of the American Society of Nephrology
, 28
(8)
pp. 2364-2376.
10.1681/ASN.2016060694.
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Voinescu, Catalin D;
Mozere, Monika;
Genovese, Giulio;
Downie, Mallory L;
Gupta, Sanjana;
Gale, Daniel P;
Bockenhauer, Detlef;
... Stanescu, Horia C; + view all
(2024)
A Neanderthal haplotype introgressed into the human genome confers protection against membranous nephropathy.
Kidney International
10.1016/j.kint.2024.01.017.
(In press).
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Waters, AM;
Asfahani, R;
Carroll, P;
Bicknell, L;
Lescai, F;
Bright, A;
Chanudet, E;
... Beales, PL; + view all
(2016)
Erratum: The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes (vol 52, pg 147, 2015).
Journal of Medical Genetics
, 53
(12)
p. 845.
10.1136/jmedgenet-2014-102691corr1.
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Waters, AM;
Asfahani, R;
Carroll, P;
Bicknell, L;
Lescai, F;
Bright, A;
Chanudet, E;
... Beales, PL; + view all
(2015)
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Journal of Medical Genetics
, 52
(3)
pp. 147-156.
10.1136/jmedgenet-2014-102691.
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Waters, AM;
Asfahani, R;
Carroll, P;
Bicknell, L;
Lescai, F;
Bright, A;
Chanudet, E;
... Beales, PL; + view all
(2015)
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
J Med Genet
, 52
(3)
147 - 156.
10.1136/jmedgenet-2014-102691.
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Williams, HJ;
Hurst, JR;
Ocaka, L;
James, C;
Pao, C;
Chanudet, E;
Lescai, F;
... Beales, P; + view all
(2016)
The use of whole-exome sequencing to disentangle complex phenotypes.
European Journal of Human Genetics
, 24
(2)
pp. 298-301.
10.1038/ejhg.2015.121.
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Xie, J;
Liu, L;
Mladkova, N;
Li, Y;
Ren, H;
Wang, W;
Cui, Z;
... Kiryluk, K; + view all
(2020)
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.
Nature Communications
, 11
(1)
, Article 1600. 10.1038/s41467-020-15383-w.
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Zdebik, AA;
Mahmood, F;
Stanescu, HC;
Kleta, R;
Bockenhauer, D;
Russell, C;
(2013)
Epilepsy in kcnj10 Morphant Zebrafish Assessed with a Novel Method for Long-Term EEG Recordings.
PLoS One
, 8
(11)
, Article e79765. 10.1371/journal.pone.0079765.
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Thesis
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Cheshire, Christopher;
(2019)
Bioinformatic Investigations Into the Genetic Architecture of Renal Disorders.
Doctoral thesis (Ph.D), UCL (University College London).
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Dufek-Kamperis, Stephanie;
(2020)
Genome wide association study in steroid sensitive nephrotic syndrome.
Doctoral thesis (Ph.D), UCL (University College London).
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Stanescu, H.C.;
(2011)
Clinical, genetic and molecular aspects of membranous nephropathy.
Doctoral thesis , UCL (University College London).
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