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Author Details
Full Name
Mari-Wyn Burley
Affiliation
and UCL Genetics Institute, University College London
ORCID
Career Start Year
1982
Papers
22
H Index
16
Expertise
CM4AI Collaborator
Andrej Sali (CM4AI)
PMID
Paper Title
Journal Title
Published Year
25254375
Admixture in Latin America: geographic structure, phenotypic diversity and self-perception of ancestry based on 7,342 individuals.
PLoS Genet
2014
20547126
A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome.
Neuron
2010
21071953
Genome-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 Hered
2010
20887376
Contrasting patterns of nuclear and mtDNA diversity in Native American populations.
Ann Hum Genet
2010
18798332
Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population.
Am J Med Genet A
2008
17437410
Lack of support for a role for RLIP76 (RALBP1) in response to treatment or predisposition to epilepsy.
Epilepsia
2007
15888540
Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here?
Brain
2005
15505174
The -1021C->T DBH gene variant is not associated with epilepsy or antiepileptic drug response.
Neurology
2004
10905251
Non-penetrance in tuberous sclerosis.
Lancet
2000
9803264
A 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 Genet
1998
9312167
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.
J Clin Invest
1997
9242607
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
Science
1997
9459002
Mapping ESTs to the TSC1 candidate interval by use of the 'Science 96' transcript map.
Ann Hum Genet
1997
7979156
Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.
Ann Hum Genet
1994
1339474
A 19 bp deletion polymorphism adjacent to a dinucleotide repeat polymorphism at the human dopamine beta-hydroxylase locus.
Hum Mol Genet
1992
1674844
Genetic heterogeneity in tuberous sclerosis. Study of a large collaborative dataset.
Ann N Y Acad Sci
1991
1674846
An attempt to map two genes for tuberous sclerosis using novel two-point methods.
Ann N Y Acad Sci
1991
1977125
A BamHI polymorphism at the DBH locus.
Nucleic Acids Res
1990
2737929
HLA class III haplotypes in multicase rheumatoid arthritis families.
Hum Immunol
1989
2899264
Genetic recombination between tuberous sclerosis and oncogene v-abl.
Lancet
1988
3260584
C4 complement allotypes in juvenile dermatomyositis.
Hum Immunol
1988
7114792
Mapping studies on human mitochondrial glutamate oxaloacetate transaminase.
Ann Hum Genet
1982
1 - 22 of 22
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