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Author Details

Mari-Wyn Burley
and UCL Genetics Institute, University College London
1982
22
16
Andrej Sali (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
25254375Admixture in Latin America: geographic structure, phenotypic diversity and self-perception of ancestry based on 7,342 individuals.PLoS Genet2014
20547126A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome.Neuron2010
21071953Genome-wide linkage scan of bipolar disorder in a Colombian population isolate replicates Loci on chromosomes 7p21-22, 1p31, 16p12 and 21q21-22 and identifies a novel locus on chromosome 12q.Hum Hered2010
20887376Contrasting patterns of nuclear and mtDNA diversity in Native American populations.Ann Hum Genet2010
18798332Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population.Am J Med Genet A2008
17437410Lack of support for a role for RLIP76 (RALBP1) in response to treatment or predisposition to epilepsy.Epilepsia2007
15888540Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here?Brain2005
15505174The -1021C->T DBH gene variant is not associated with epilepsy or antiepileptic drug response.Neurology2004
10905251Non-penetrance in tuberous sclerosis.Lancet2000
9803264A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients.Ann Hum Genet1998
9312167Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.J Clin Invest1997
9242607Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.Science1997
9459002Mapping ESTs to the TSC1 candidate interval by use of the 'Science 96' transcript map.Ann Hum Genet1997
7979156Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.Ann Hum Genet1994
1339474A 19 bp deletion polymorphism adjacent to a dinucleotide repeat polymorphism at the human dopamine beta-hydroxylase locus.Hum Mol Genet1992
1674844Genetic heterogeneity in tuberous sclerosis. Study of a large collaborative dataset.Ann N Y Acad Sci1991
1674846An attempt to map two genes for tuberous sclerosis using novel two-point methods.Ann N Y Acad Sci1991
1977125A BamHI polymorphism at the DBH locus.Nucleic Acids Res1990
2737929HLA class III haplotypes in multicase rheumatoid arthritis families.Hum Immunol1989
2899264Genetic recombination between tuberous sclerosis and oncogene v-abl.Lancet1988
3260584C4 complement allotypes in juvenile dermatomyositis.Hum Immunol1988
7114792Mapping studies on human mitochondrial glutamate oxaloacetate transaminase.Ann Hum Genet1982
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Collaborators

Co-authored papers 5
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Co-authored papers 3
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Albert Einstein College of Medicine
Co-authored papers 1
University of California San Francisco
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Duncan Guthrie Institute of Medical Genetics
Co-authored papers 1
Hanoi Medical University Hospital
Co-authored papers 1
Wellcome Sanger Institute
Co-authored papers 1
Co-authored papers 1
Universidad de Murcia
Co-authored papers 1
St. George's University Hospitals National Health Service Foundation Trust
Co-authored papers 1
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College of Medicine and Health Sciences, United Arab Emirates University
Co-authored papers 1
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