2020
In the Presence of Genetic Heterogeneity of CAKUT, Whole-Exome Sequencing Establishes a Molecular Genetic Diagnosis in 14% of Cases
Seltzsam S, Wang C, Zheng B, Wu C, Schneider S, Schierbaum L, Connaughton D, Van der ven A, Mann N, Nakayama M, Dai R, Kause F, Kolvenbach C, Mane S, Shril S, Hildebrandt F. In the Presence of Genetic Heterogeneity of CAKUT, Whole-Exome Sequencing Establishes a Molecular Genetic Diagnosis in 14% of Cases. Journal Of The American Society Of Nephrology 2020, 31: 519-520. DOI: 10.1681/asn.20203110s1519d.Peer-Reviewed Original Research
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