Lorraine Southam

发表

Very low-depth whole-genome sequencing in complex trait association studies

Xiangyu Ge, Jeremy Schwartzentruber, Eleftheria Zeggini, 2017, bioRxiv.

Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study

Andres Metspalu, Michael Doherty, Nigel Arden, 2012, The Lancet.

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Gail Clement, Jie Huang, Antonio Ciampi, 2014, Nature Communications.

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

Inês Barroso, Jiyoung Heo, Beverley Balkau, 2015, Nature communications.

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

Jie Huang, Inês Barroso, Tom R. Gaunt, 2017, American journal of human genetics.

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses

Carol Dobson-Stone, Maria Fraser, Lorraine Southam, 2000, European Journal of Human Genetics.

Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation

Eleftheria Zeggini, Aliki-Eleni Farmaki, Arthur Gilly, 2016, Human molecular genetics.

Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants

Gil McVean, Rebecca N. Nsubuga, Vasiliki Mamakou, 2014, Nature Communications.

Directional dominance on stature and cognition in diverse human populations

Laura J. Scott, Claude Bouchard, Christian Gieger, 2015, Nature.

Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis

Kari Stefansson, Sophie Hackinger, Eleftheria Zeggini, 2018, Nature Genetics.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Gail Clement, Jie Huang, Inês Barroso, 2016, Nature Communications.

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

Jie Huang, William J. Astle, Bengt Sennblad, 2016, Nature Genetics.

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

He Zhang, Andres Metspalu, Fotios Drenos, 2016, Nature Genetics.

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

Jeremy Schwartzentruber, Eleftheria Zeggini, Ioanna Tachmazidou, 2017, Nature Communications.

Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits

Inês Barroso, Klaudia Walter, Ioanna Ntalla, 2018, Nature Communications.

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

Claude Bouchard, Christian Gieger, Joel Eriksson, 2016, Nature communications.

Erratum: A radiation hybrid transcript map of the mouse genome (Nature Genetics (2001) 29 (194-200))

Patricia Rodriguez-Tomé, Hans Lehrach, Roger D. Cox, 2001 .

An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage.

John Loughlin, Lorraine Southam, Kay Chapman, 2007, Human molecular genetics.

Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data

Michael Doherty, Nigel Arden, Panos Deloukas, 2012, Annals of the rheumatic diseases.

A radiation hybrid transcript map of the mouse genome

Hans Lehrach, Roger D. Cox, Jean Weissenbach, 2001, Nature Genetics.