A. J. Schafer

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International network of cancer genome projects

Gary D Bader, Benjamin J. Raphael, Joshua M. Stuart, 2010, Nature.

Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension

S. O’Rahilly, I. Barroso, J. Schwabe, 1999, Nature.

Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073

Ken Chen, Joshua M. Korn, Afidalina Tumian, 2010 .

Compound Effects of Point Mutations Causing Campomelic Dysplasia/Autosomal Sex Reversal upon SOX9 Structure, Nuclear Transport, DNA Binding, and Transcriptional Activation*

I. Barroso, T. Ogata, A. Clayton, 2001, The Journal of Biological Chemistry.

The human SRY transcript.

A. Sinclair, M. Palmer, P. Goodfellow, 1993, Human molecular genetics.

Genetic variants of insulin receptor substrate‐1 (IRS‐1) in syndromes of severe insulin resistance. Functional analysis of Ala513Pro and Gly1158Glu IRS‐1

S. O’Rahilly, I. Barroso, M. Soos, 2002, Diabetic medicine : a journal of the British Diabetic Association.

A Family with Severe Insulin Resistance and Diabetes Due to a Mutation in AKT2

D. Dunger, D. Barford, M. Stoffel, 2004, Science.

Tissue-specific extinguisher loci in the murine genome: A screening study based on a rat/mouse microcell hybrid panel

A. J. Schafer, G. Bulla, R. Fournier, 1994, Somatic cell and molecular genetics.

Candidate Gene Association Study in Type 2 Diabetes Indicates a Role for Genes Involved in β-Cell Function as Well as Insulin Action

Inês Barroso, Nicholas J Wareham, Paul W Franks, 2003, PLoS biology.

Multiple elements regulate phosphoenolpyruvate carboxykinase gene expression in hepatoma hybrid cells

A. J. Schafer, R. Fournier, 1992, Somatic cell and molecular genetics.

Genetic variants in human sterol regulatory element binding protein-1c in syndromes of severe insulin resistance and type 2 diabetes.

S. O’Rahilly, N. Wareham, I. Barroso, 2004, Diabetes.

Microbial natural products: Alive and well in 1998

A. J. Schafer, J. Hawkins, A. L. Demain, 1998, Nature Biotechnology.

Differentiating campomelic dysplasia from Cumming syndrome

I. Barroso, W. Wilcox, A. J. Schafer, 2005, American journal of medical genetics. Part A.

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

Sahar Mansour, Jean Weissenbach, J. Weissenbach, 1994, Nature.

Linkage analysis of a kindred with inherited 46,XY partial gonadal dysgenesis.

H. Ostrer, A. J. Schafer, C. Migeon, 1996, The Journal of clinical endocrinology and metabolism.

9 Sex Determination and Its Pathology in Man

A. J. Schafer, 1995 .

Genes and phenotypes of the human Y chromosome

A. J. Schafer, 1994 .

Sex determination in humans

P. Goodfellow, A. J. Schafer, 1996, BioEssays : news and reviews in molecular, cellular and developmental biology.

human PPARg associated with severe insulin resistance, diabetes mellitus and hypertension

S. O’Rahilly, I. Barroso, M. Soos, 1999 .

Digenic inheritance of severe insulin resistance in a human pedigree

Jimmy D Bell, S. O’Rahilly, N. Wareham, 2002, Nature Genetics.

Meta-analysis of the Gly482Ser variant in PPARGC1A in type 2 diabetes and related phenotypes

S. O’Rahilly, M. Sandhu, N. Wareham, 2006, Diabetologia.

PGC-1alpha genotype modifies the association of volitional energy expenditure with [OV0312]O2max.

U. Ekelund, S. O’Rahilly, M. Sandhu, 2003, Medicine and science in sports and exercise.

PGC-1 Genotype Modifies the Association of Volitional Energy Expenditure with V̇O 2 max

U. Ekelund, S. O’Rahilly, M. Sandhu, 2003 .

PPARGC1A coding variation may initiate impaired NEFA clearance during glucose challenge

U. Ekelund, S. O’Rahilly, N. Wareham, 2007, Diabetologia.

Physical mapping of human chromosome 17 using fragment-containing microcell hybrids.

A. J. Schafer, M. Thayer, R. Fournier, 1989, Genomics.

Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene

Jimmy D Bell, Elizabeth Louise Thomas, I. Barroso, 2004, Diabetologia.

Digenic inheritance of severe insulin resistance in a human pedigree

S. O’Rahilly, N. Wareham, I. Barroso, 2002, Nature Genetics.

Campomelic Dysplasia with XY Sex Reversal: Diverse Phenotypes Resulting from Mutations in a Single Gene a

J. W. Foster, P. Goodfellow, A. J. Schafer, 1996, Annals of the New York Academy of Sciences.

Association study of candidate genes for the prevalence and progression of knee osteoarthritis.

T. Spector, G. Surdulescu, A. Valdes, 2004, Arthritis and rheumatism.

The role of SOX9 in autosomal sex reversal and campomelic dysplasia.

J. Weissenbach, J. W. Foster, P. Goodfellow, 1995, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

Ultraconserved Elements in the Human Genome

D. Haussler, W. J. Kent, G. Bejerano, 2004, Science.

Variation in the eNOS gene modifies the association between total energy expenditure and glucose intolerance.

U. Ekelund, S. O’Rahilly, N. Wareham, 2005, Diabetes.

A high-resolution whole genome radiation hybrid map of human chromosome 17q22-q25.3 across the genes for GH and TK.

J. W. Foster, P. Goodfellow, D. Spillett, 1996, Genomics.

FineStructure DNA Mapping Studies oftheChromosomal Region Harboring theGenetic Defect in Neurofibromatosis TypeI

D. Ledbetter, M. Leppert, P. O'Connell, 1989 .