2015
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Akdemir Z, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA, Genomics C, Bamshad MJ. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. American Journal Of Human Genetics 2015, 97: 199-215. PMID: 26166479, PMCID: PMC4573249, DOI: 10.1016/j.ajhg.2015.06.009.Peer-Reviewed Original ResearchConceptsMendelian phenotypesGenetic basisLarge-scale whole-exome sequencingMendelian conditionsGene functionGene regulationGenomic dataWhole-exome sequencingMendelian GenomicsGenesPhenotypic characterizationNovel mechanismExtensive clinical variabilityGenetic variantsPhenotypePervasive sharingBiological mechanismsSequencingNew therapeuticsSuch discoveriesFamilyDiscoveryHuman healthGenomicsClinical variability
2012
The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions
Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA, Genomics O. The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions. American Journal Of Medical Genetics Part A 2012, 158A: 1523-1525. PMID: 22628075, PMCID: PMC3702263, DOI: 10.1002/ajmg.a.35470.Peer-Reviewed Original ResearchMeSH KeywordsAcademies and InstitutesGenetic Diseases, InbornGenetics, MedicalGenome-Wide Association StudyGenome, HumanGenomicsHigh-Throughput Nucleotide SequencingHumansConceptsWhole-genome sequencingMendelian GenomicsMendelian disordersHuman genetics communityNext-generation exome sequencingExome sequencingGenomicsMendelian phenotypesGenome sequencingGenetics communityRare Mendelian conditionsMendelian conditionsGenesSequencingNew powerful toolPowerful toolLarge fractionPhenotypeLarge-scale initiativesDiscoveryIdentification
2011
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred
Gulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, Ozcelik T. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Research 2011, 21: 1995-2003. PMID: 21885617, PMCID: PMC3227090, DOI: 10.1101/gr.126110.111.Peer-Reviewed Original ResearchMeSH KeywordsAdultCerebellumChromosomes, Human, Pair 17FemaleGaitGenetic Diseases, InbornGenetic LociHomozygoteHumansMagnetic Resonance ImagingMalePostureRadiographyTurkeyConceptsBeta-propeller domainPrivate missense mutationsLarge consanguineous familyThird geneBEACH domainTransmembrane proteinHomozygous regionsHomozygosity mappingGenomic sequencingWDR81Chromosome 17p13.1Missense mutationsQuadrupedal locomotionConsanguineous familyTargeted sequencingGenesSequencingRare phenotypeMorphological abnormalitiesBiological basisMutationsAffected individualsCell layerParticular atrophyFamily