2024
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
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
2020
Whole-Exome Sequencing in 97 Families with Renal Ciliopathies Reveals a Causative Mutation in a Known Kidney Disease Gene in 62% and Identifies Potential Novel Causative Genes
Deutsch K, Klambt V, Kitzler T, Jobst-Schwan T, Shril S, Mane S, Hildebrandt F. Whole-Exome Sequencing in 97 Families with Renal Ciliopathies Reveals a Causative Mutation in a Known Kidney Disease Gene in 62% and Identifies Potential Novel Causative Genes. Journal Of The American Society Of Nephrology 2020, 31: 487-487. DOI: 10.1681/asn.20203110s1487b.Peer-Reviewed Original ResearchWhole-Exome Sequencing Reveals a Monogenic Cause of Disease in 23.1% of 276 Families with Steroid-Resistant Nephrotic Syndrome
Schneider R, Onuchic-Whitford A, Deutsch K, Halawi A, Mao Y, Buerger F, Klambt V, Majmundar A, Kitzler T, Mane S, Shril S, Hildebrandt F. Whole-Exome Sequencing Reveals a Monogenic Cause of Disease in 23.1% of 276 Families with Steroid-Resistant Nephrotic Syndrome. Journal Of The American Society Of Nephrology 2020, 31: 518-518. DOI: 10.1681/asn.20203110s1518a.Peer-Reviewed Original Research