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Number of items: 32.
Article
Apps, JR;
Carreno, G;
Mario Gonzalez-Meljem, J;
Haston, S;
Guiho, R;
Cooper, JE;
Manshaei, S;
... Martinez-Barbera, JP; + view all
(2018)
Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target.
Acta Neuropathologica
, 135
(5)
pp. 757-777.
10.1007/s00401-018-1830-2.
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Bacchelli, C;
Williams, HJ;
(2016)
Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.
Expert Review of Molecular Diagnostics
, 16
(10)
pp. 1073-1082.
10.1080/14737159.2016.1222906.
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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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Bridges, M;
Heron, EA;
O'Dushlaine, C;
Segurado, R;
International Schizophrenia, C;
Morris, D;
Corvin, A;
... Pinto, C; + view all
(2011)
Genetic classification of populations using supervised learning.
PLoS One
, 6
(5)
, Article e14802. 10.1371/journal.pone.0014802.
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Cerbone, M;
Clement, E;
McClatchey, M;
Dobbin, J;
Gilbert, C;
Keane, M;
Boukhibar, L;
... Shah, P; + view all
(2019)
Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement.
Hormone Research in Paediatrics
, 2019
(92)
pp. 64-70.
10.1159/000496545.
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Derks, EM;
Vorstman, JA;
Ripke, S;
Kahn, RS;
Schizophrenia Psychiatric Genomic, C;
Ophoff, RA;
(2012)
Investigation of the genetic association between quantitative measures of psychosis and schizophrenia: a polygenic risk score analysis.
PLoS One
, 7
, Article e37852. 10.1371/journal.pone.0037852.
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Gorman, KM;
Meyer, E;
Grozeva, D;
Spinelli, E;
McTague, A;
Sanchis-Juan, A;
Carss, KJ;
... Kurian, MA; + view all
(2019)
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
American Journal of Human Genetics
, 104
(5)
pp. 948-956.
10.1016/j.ajhg.2019.03.005.
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Gregory, LC;
Ferreira, CB;
Young-Baird, SK;
Williams, HJ;
Harakalova, M;
van Haaften, G;
Rahman, SA;
... Dattani, MT; + view all
(2019)
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.
EBioMedicine
, 42
pp. 470-480.
10.1016/j.ebiom.2019.03.013.
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Gregory, LC;
Shah, P;
Sanner, JRF;
Arancibia, M;
Hurst, J;
Jones, WD;
Spoudeas, H;
... Dattani, MT; + view all
(2019)
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
The Journal of Clinical Endocrinology & Metabolism
, 104
(12)
pp. 5737-5750.
10.1210/jc.2019-00631.
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Haworth, S;
Shapland, CY;
Hayward, C;
Prins, BP;
Felix, JF;
Medina-Gomez, C;
Rivadeneira, F;
... St Pourcain, B; + view all
(2019)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Nature Communications
, 10
, Article 357. 10.1038/s41467-018-07863-x.
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Hendricks, AE;
Bochukova, EG;
Marenne, G;
Keogh, JM;
Atanassova, N;
Bounds, R;
Wheeler, E;
... Bhattacharyaa, S; + view all
(2017)
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Scientific Reports
, 7
(1)
, Article 4394. 10.1038/s41598-017-03054-8.
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Hong, Y;
Keylock, A;
Jensen, B;
Jacques, TS;
Ogunbiyi, O;
Omoyinmi, E;
Saunders, D;
... Eleftheriou, D; + view all
(2020)
Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene.
Neurology Genetics
, 6
(4)
, Article e448. 10.1212/NXG.0000000000000448.
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Huang, J;
Howie, B;
McCarthy, S;
Memari, Y;
Walter, K;
Min, JL;
Danecek, P;
... Soranzo, N; + view all
(2015)
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
Nature Communications
, 6
(811)
10.1038/ncomms9111.
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Keller, MC;
Simonson, MA;
Ripke, S;
Neale, BM;
Gejman, PV;
Howrigan, DP;
Lee, SH;
... The Schizophrenia Psychiatric Genome-Wide Association Study Cons; + view all
(2012)
Runs of homozygosity implicate autozygosity as a schizophrenia risk factor.
PLoS Genetics
, 8
(4)
, Article e1002656. 10.1371/journal.pgen.1002656.
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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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Martin, C-A;
Sarlós, K;
Logan, CV;
Thakur, RS;
Parry, DA;
Bizard, AH;
Leitch, A;
... Jackson, AP; + view all
(2018)
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
American Journal of Human Genetics
, 103
(2)
pp. 221-231.
10.1016/j.ajhg.2018.07.001.
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McGlacken-Byrne, SM;
Le Quesne Stabej, P;
Del Valle Torres, I;
Ocaka, L;
Gagunashvili, A;
Crespo, B;
Moreno, N;
... Conway, GS; + view all
(2021)
ZSWIM7 is associated with human female meiosis and familial primary ovarian insufficiency.
The Journal of clinical endocrinology and metabolism
10.1210/clinem/dgab597.
(In press).
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Mestek-Boukhibar, L;
Clement, E;
Jones, WD;
Drury, S;
Ocaka, L;
Gagunashvili, A;
Le Quesne Stabej, P;
... Williams, HJ; + view all
(2018)
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.
Journal of Medical Genetics
, 55
(11)
pp. 721-728.
10.1136/jmedgenet-2018-105396.
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Olcese, C;
Patel, MP;
Shoemark, A;
Kiviluoto, S;
Legendre, M;
Williams, HJ;
Vaughan, CK;
... Mitchison, HM; + view all
(2017)
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Nature Communications
, 8
, Article 14279. 10.1038/ncomms14279.
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Oud, MM;
Tuijnenburg, P;
Hempel, M;
van Vlies, N;
Ren, Z;
Ferdinandusse, S;
Jansen, MH;
... Kuijpers, TW; + view all
(2017)
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
American Journal of Human Genetics
, 100
(2)
pp. 281-296.
10.1016/j.ajhg.2017.01.013.
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Peters, MJ;
Williams, HJ;
(2019)
Information Is the Resolution of Uncertainty: Whole Genome Approaches to Genetic Diagnosis on the PICU.
[Editorial comment].
Pediatric Critical Care Medicine
, 20
(11)
pp. 1087-1088.
10.1097/PCC.0000000000002091.
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Raychaudhuri, S;
Korn, JM;
McCarroll, SA;
International Schizophrenia, C;
Altshuler, D;
Sklar, P;
Purcell, S;
(2010)
Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function.
PLoS Genetics
, 6
(9)
, Article e1001097. 10.1371/journal.pgen.1001097.
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Raychaudhuri, S;
Plenge, RM;
Rossin, EJ;
Altshuler, D;
Daly, MJ;
Purcell, SM;
Sklar, P;
... Macedo, A; + view all
(2009)
Identifying relationships among genomic disease regions: Predicting genes at pathogenic SNP associations and rare deletions.
PLoS Genetics
, 5
(6)
, Article e1000534. 10.1371/journal.pgen.1000534.
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Rees, E;
Kirov, G;
Walters, JT;
Richards, AL;
Howrigan, D;
Kavanagh, DH;
Pocklington, AJ;
... O'Donovan, MC; + view all
(2015)
Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.
Translational Psychiatry
, 5
, Article e607. 10.1038/tp.2015.99.
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Reid, ES;
Williams, H;
Anderson, G;
Benatti, M;
Chong, K;
James, C;
Ocaka, L;
... Clayton, PT; + view all
(2017)
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
Journal of Inherited Metabolic Disease
, 40
(3)
pp. 385-394.
10.1007/s10545-017-0025-7.
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Schmidts, M;
Hou, Y;
Cortés, CR;
Mans, DA;
Huber, C;
Boldt, K;
Patel, M;
... Witman, GB; + view all
(2015)
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Nature Communications
, 6
, Article 7074. 10.1038/ncomms8074.
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Thomas, AC;
Williams, H;
Seto-Salvia, N;
Bacchelli, C;
Jenkins, D;
O'Sullivan, M;
Mengrelis, K;
... Stanier, PM; + view all
(2014)
Mutations in SNX14 cause a distinctive autosomal recessive cerebellar ataxia and intellectual disability syndrome.
The American Journal of Human Genetics
, 95
(5)
pp. 611-621.
10.1016/j.ajhg.2014.10.007.
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Walter, K;
Min, JL;
Huang, J;
Crooks, L;
Memari, Y;
McCarthy, S;
Perry, JRB;
... Zhang, W; + view all
(2015)
The UK10K project identifies rare variants in health and disease.
Nature
, 526
(7571)
pp. 82-90.
10.1038/nature14962.
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Whittaker, Danielle E;
Oleari, Roberto;
Gregory, Louise C;
Le Quesne-Stabej, Polona;
Williams, Hywel J;
Torpiano, John G;
Formosa, Nancy;
... Dattani, Mehul T; + view all
(2021)
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
Journal of Clinical Investigation
, 131
(24)
, Article e141587. 10.1172/JCI141587.
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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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