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
Generation of Monogenic Candidate Genes of Human Nephrotic Syndrome via Three Independent Approaches
Onuchic-Whitford A, Klambt V, Mao Y, Schneider R, Buerger F, Shamseldin H, Deutsch K, Kitzler T, Nakayama M, Majmundar A, Mann N, Rehm H, Mane S, Alkuraya F, Shril S, Hildebrandt F. Generation of Monogenic Candidate Genes of Human Nephrotic Syndrome via Three Independent Approaches. Journal Of The American Society Of Nephrology 2020, 31: 516-516. DOI: 10.1681/asn.20203110s1516c.Peer-Reviewed Original ResearchHuman nephrotic syndromeCandidate genes