2018
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome
Warejko JK, Schueler M, Vivante A, Tan W, Daga A, Lawson JA, Braun DA, Shril S, Amann K, Somers MJG, Rodig NM, Baum MA, Daouk G, Traum AZ, Kim HB, Vakili K, Porras D, Lock J, Rivkin MJ, Chaudry G, Smoot LB, Singh MN, Smith ER, Mane SM, Lifton RP, Stein DR, Ferguson MA, Hildebrandt F. Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome. Hypertension 2018, 71: 691-699. PMID: 29483232, PMCID: PMC5843550, DOI: 10.1161/hypertensionaha.117.10296.Peer-Reviewed Original ResearchConceptsMidaortic syndromeWhole-exome sequencingExome sequencingVascular diseaseMonogenic causesExtensive vascular diseaseSevere childhood hypertensionGenotype/phenotype correlationChildhood hypertensionRare causeEtiologic diagnosisInflammatory diseasesAbdominal aortaMolecular genetic diagnosisGenetic syndromesSyndromic diseaseWhole-exome sequencing dataDiseaseSyndromePhenotype correlationGenetic diagnosisExome sequencing dataDiagnosisCauseHigh percentage
2010
T1718 SNP Identification of Common Gene Alterations in Crohn's Disease and Familial Neuroendocrine Tumors: Concordant Expression of Immune-Associated Genes
Kidd M, Alexandraki K, Kaltsas G, Mane S, Papailiou J, Ioannis K, Piperi C, Drozdov I, Svejda B, Modlin I, Gustafsson B. T1718 SNP Identification of Common Gene Alterations in Crohn's Disease and Familial Neuroendocrine Tumors: Concordant Expression of Immune-Associated Genes. Gastroenterology 2010, 138: s-564. DOI: 10.1016/s0016-5085(10)62596-6.Peer-Reviewed Original Research
2007
Metabolic Syndrome—What We Know and What We Don't Know LPR6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors. Science 315: 1278–1282, 2007
Mani A, Radhakrishnan J, Wang H, Mani A, Mani M, Nelson-Williams C, Carew K, Mane S, Najmabadi H, Wu D, Lifton R. Metabolic Syndrome—What We Know and What We Don't Know LPR6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors. Science 315: 1278–1282, 2007. Journal Of The American Society Of Nephrology 2007, 18: 1619-1623. DOI: 10.1681/asn.2007040522.Peer-Reviewed Original Research