Featured Publications
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family
Besse W, Choi J, Ahram D, Mane S, Sanna‐Cherchi S, Torres V, Somlo S. A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. Human Mutation 2018, 39: 378-382. PMID: 29243290, PMCID: PMC5805583, DOI: 10.1002/humu.23383.Peer-Reviewed Original ResearchConceptsLoss-of-function variantsSequence analysis pipelineWhole-exome sequencing analysisExome sequencing dataExome sequencing analysisBase pair deletionSkipping of exonIsolated polycystic liver diseaseNoncoding variantsLinkage analysisDisease genesSequence dataGene discoveryMinigene assayLinkage disequilibriumCoding regionSNP genotypingSequence analysisGenomic evaluationPolycystic liver diseaseSplice donorIdentified mutationsMutation detectionPair deletionGANAB
2007
Signatures of strong population differentiation shape extended haplotypes across the human CD28, CTLA4, and ICOS costimulatory genes
Butty V, Roy M, Sabeti P, Besse W, Benoist C, Mathis D. Signatures of strong population differentiation shape extended haplotypes across the human CD28, CTLA4, and ICOS costimulatory genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2007, 104: 570-575. PMID: 17197413, PMCID: PMC1766426, DOI: 10.1073/pnas.0610124104.Peer-Reviewed Original ResearchMeSH KeywordsAntigens, CDAntigens, DifferentiationAntigens, Differentiation, T-LymphocyteAutoimmunityCD28 AntigensChromosomes, Human, Pair 2CTLA-4 AntigenEthnicityGenetic VariationGenetics, PopulationHaplotypesHumansInducible T-Cell Co-Stimulator ProteinLinkage DisequilibriumLymphocyte ActivationPolymorphism, Single NucleotidePromoter Regions, GeneticT-LymphocytesConceptsLong-range linkage disequilibriumShort genomic intervalsGenomic intervalsCourse of human migrationsDemographic eventsDNA panelLinkage disequilibriumReceptor familyHuman CD28T cell activationMicrobial challengeAllelic variantsHuman populationHaplotypesDifferentiation shapeGenesLociCell activationHuman migrationUnusual differencesCostimulatory genesExtended haplotypesVariantsGeographic regionsCTLA-4