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De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.
Bradbrook SM, Graham G, Carter MT, Kibaek M, Fagerberg C, Larsen MJ, Dawson K, Meuter C, Pepler A, Besnard T, Vincent M, Isidor B, Bezieau S, Cogne B, Bjørgo K, Amundsen SS, Courtin T, Emrick L, Rosenfeld JA, Weisz-Hubshman M; Undiagnosed Diseases Network; Mak BC, Martinez-Agosto J, Heulin M, Morin G, Keren B, Schutz S, Monin P, Pujalte M, Januel L, Lesca G, Valence MB, Margot H, Levy J, Iovino E, Isidori F, Pippucci T, Montanari F, Bell L, Burton J, Torti E, Wentzensen IM, Marcadier J. Bradbrook SM, et al. Among authors: meuter c. Am J Med Genet A. 2025 Sep 11:e64242. doi: 10.1002/ajmg.a.64242. Online ahead of print. Am J Med Genet A. 2025. PMID: 40936200
Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.
Prach L, Koepke R, Kharrazi M, Keiles S, Salinas DB, Reyes MC, Pian M, Opsimos H, Otsuka KN, Hardy KA, Milla CE, Zirbes JM, Chipps B, O'Bra S, Saeed MM, Sudhakar R, Lehto S, Nielson D, Shay GF, Seastrand M, Jhawar S, Nickerson B, Landon C, Thompson A, Nussbaum E, Chin T, Wojtczak H; California Cystic Fibrosis Newborn Screening Consortium. Prach L, et al. J Mol Diagn. 2013 Sep;15(5):710-22. doi: 10.1016/j.jmoldx.2013.05.006. Epub 2013 Jun 28. J Mol Diagn. 2013. PMID: 23810505 Free PMC article.