Genetic Variants Associated with Lp(a) Lipoprotein Level and Coronary Disease

Robert Clarke, John F. Peden, Jemma C. Hopewell, +20

New England Journal of Medicine

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

Stephan Rust, Marie Rosier, Harald Funke, +8

Nature Genetics

Signal TransductionDisease MechanismGenetic DisorderGeneticsPathogenesis +4

Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p

Helen M. Broadbent, John F. Peden, Stefan Lorkowski, +13

Human Molecular Genetics

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Julien H. Park, Max Hogrebe, Marianne Grüneberg, +21

The American Journal of Human Genetics

Slc39a8 DeficiencyBiochemistryNatural SciencesMetalloproteinMolecular Biology +1

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel, +46

New England Journal of Medicine

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

Karl P. Schlingmann, Justyna Ruminska, Martin Kaufmann, +25

Journal of the American Society of Nephrology

Autosomal-recessive MutationsMetabolic DisorderGeneticsGenetic EpidemiologyPathology +17

Human ATP-binding cassette transporter 1 (ABC1): Genomic organization and identification of the genetic defect in the original Tangier disease kindred

Alan T. Remaley, Stephan Rust, Marie Rosier, +17

Proceedings of the National Academy of Sciences

GeneticsMolecular BiologyTangier DiseaseGene CharacterizationMolecular Genetics +14

Mutagenically separated PCR (MS-PCR): a highly specific one step procedure for easy mutation detection

Stephan Rust, Harald Funke, Gerd Assmann

Nucleic Acids Research

Step ProcedureGenetic TestingGeneticsGenetic EpidemiologyDna Analysis +23

Effect of the interleukin-6 promoter polymorphism (−174 G/C) on the incidence and outcome of sepsis

Bernhard Schlüter, Carsten Raufhake, Michael Erren, +6

Critical Care Medicine

CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

Francisco J. Arjona, Jeroen H. F. de Baaij, Karl P. Schlingmann, +11

PLoS Genetics

Brain DevelopmentNeurological DisorderGeneticsEpigeneticsSocial Sciences +14