Browse by UCL people
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Number of items: 14.
Article
Coppola, A;
Cellini, E;
Stamberger, H;
Saarentaus, E;
Cetica, V;
Lal, D;
Djémié, T;
... EpiCNV Consortium, .; + view all
(2019)
Diagnostic implications of genetic copy number variation in epilepsy plus.
Epilepsia
10.1111/epi.14683.
(In press).
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Cross, JH;
Arora, R;
Heckemann, RA;
Gunny, R;
Chong, K;
Carr, L;
Baldeweg, T;
... Bockenhauer, D; + view all
(2013)
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
Dev Med Child Neurol
, 55
(9)
846 - 856.
10.1111/dmcn.12171.
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Futema, M;
Plagnol, V;
Li, K;
Whittall, RA;
Neil, HA;
Seed, M;
Simon Broome Consortium, .;
... Humphries, SE; + view all
(2014)
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
J Med Genet
, 51
(8)
537 - 544.
10.1136/jmedgenet-2014-102405.
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Galizia, EC;
Myers, CT;
Leu, C;
de Kovel, CG;
Afrikanova, T;
Cordero-Maldonado, ML;
Martins, TG;
... Sisodiya, SM; + view all
(2015)
CHD2 variants are a risk factor for photosensitivity in epilepsy.
Brain
, 138
(5)
pp. 1198-1207.
10.1093/brain/awv052.
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Galizia, EC;
Srikantha, M;
Palmer, R;
Waters, JJ;
Lench, N;
Ogilvie, CM;
Kasperavičiūtė, D;
... Sisodiya, SM; + view all
(2012)
Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities.
European Journal of Medical Genetics
, 55
(5)
342 - 348.
10.1016/j.ejmg.2011.12.011.
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Hill, M;
Wright, D;
Daley, R;
Lewis, C;
McKay, F;
Mason, S;
Lench, N;
... Chitty, LS; + view all
(2014)
Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol.
BMC Pregnancy Childbirth
, 14
(1)
, Article 229. 10.1186/1471-2393-14-229.
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Ishida, M;
Cullup, T;
Boustred, C;
James, C;
Docker, J;
English, C;
GOSgene, .;
... Stanier, PM; + view all
(2018)
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.
Clinical Genetics
, 93
(4)
pp. 870-879.
10.1111/cge.13189.
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Karampetsou, E;
Morrogh, D;
Ballard, T;
Waters, JJ;
Lench, N;
Chitty, LS;
(2013)
Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization.
Prenatal Diagnosis
, 34
(1)
pp. 98-101.
10.1002/pd.4255.
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Kasperavičiute, D;
Catarino, CB;
Chinthapalli, K;
Clayton, LMS;
Thom, M;
Martinian, L;
Cohen, H;
... Sisodiya, SM; + view all
(2011)
Uncovering genomic causes of co-morbidity in epilepsy: Gene-driven phenotypic characterization of rare microdeletions.
PLoS ONE
, 6
(8)
, Article e23182. 10.1371/journal.pone.0023182.
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Khamis, A;
Palmen, J;
Lench, N;
Taylor, A;
Badmus, E;
Leigh, S;
Humphries, SE;
(2014)
Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia.
Eur J Hum Genet
10.1038/ejhg.2014.199.
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Kinsler, VA;
Drury, S;
Khan, A;
Waelchli, R;
Rukaite, G;
Barnicoat, A;
Lench, N;
... O'Shaughnessy, RF; + view all
(2015)
A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma.
Br J Dermatol
, 172
(1)
262 - 264.
10.1111/bjd.13361.
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Reid, ES;
Papandreou, A;
Drury, S;
Boustred, C;
Yue, WW;
Wedatilake, Y;
Beesley, C;
... Mills, PB; + view all
(2016)
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Brain
, 139
(11)
pp. 2844-2854.
10.1093/brain/aww221.
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Steward, CA;
Roovers, J;
Suner, M-M;
Gonzalez, JM;
Uszczynska-Ratajczak, B;
Pervouchine, D;
Fitzgerald, S;
... Frankish, A; + view all
(2019)
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
npj Genomic Medicine
, 4
, Article 31. 10.1038/s41525-019-0106-7.
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Turro, E;
Astle, WJ;
Megy, K;
Gräf, S;
Greene, D;
Shamardina, O;
Allen, HL;
... Ouwehand, WH; + view all
(2020)
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
, 583
pp. 96-102.
10.1038/s41586-020-2434-2.
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