2024
De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly
Allington G, Mehta N, Dennis E, Mekbib K, Reeves B, Kiziltug E, Chen S, Zhao S, Duy P, Saleh M, Ang L, Fan B, Nelson-Williams C, Moreno-de-Luca A, Haider S, Lifton R, Alper S, McGee S, Jin S, Kahle K. De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly. Brain 2024, awae395. PMID: 39680505, DOI: 10.1093/brain/awae395.Peer-Reviewed Original ResearchLIM interaction domainNeurodevelopmental disorder genesLIM homeodomain proteinsDe novo variantsIntegrative multiomic analysisRegulated assemblyTranscriptional regulationTranscriptional networksDisorder genesInteraction domainTranscriptional modulationTranscriptional programsMultiomics analysisLdb1Brain morphogenesisSignificant enrichmentDysmorphic featuresSignificance thresholdGenesCerebral ventriculomegalySMARCC1ARID1BCongenital hydrocephalusVariantsDevelopmental delayExpanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome
Schneider R, Shril S, Buerger F, Deutsch K, Yousef K, Frank C, Onuchic-Whitford A, Kitzler T, Mao Y, Klämbt V, Zahoor M, Lemberg K, Majmundar A, Mansour B, Saida K, Seltzsam S, Kolvenbach C, Merz L, Mertens N, Hermle T, Mann N, Pantel D, Halawi A, Bao A, Schierbaum L, Schneider S, Salmanullah D, Ben-Dov I, Sagiv I, Eid L, Awad H, Al Saffar M, Soliman N, Nabhan M, Kari J, Desoky S, Shalaby M, Ooda S, Fathy H, Mane S, Lifton R, Somers M, Hildebrandt F. Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome. Genes & Diseases 2024, 12: 101280. PMID: 39584075, PMCID: PMC11582537, DOI: 10.1016/j.gendis.2024.101280.Peer-Reviewed Original Research
2015
Genomic landscape of cutaneous T cell lymphoma
Choi J, Goh G, Walradt T, Hong BS, Bunick CG, Chen K, Bjornson RD, Maman Y, Wang T, Tordoff J, Carlson K, Overton JD, Liu KJ, Lewis JM, Devine L, Barbarotta L, Foss FM, Subtil A, Vonderheid EC, Edelson RL, Schatz DG, Boggon TJ, Girardi M, Lifton RP. Genomic landscape of cutaneous T cell lymphoma. Nature Genetics 2015, 47: 1011-1019. PMID: 26192916, PMCID: PMC4552614, DOI: 10.1038/ng.3356.Peer-Reviewed Original Research