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FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K. Mitter D, et al. Among authors: hauser ns. Genet Med. 2018 Jan;20(1):98-108. doi: 10.1038/gim.2017.75. Epub 2017 Jun 29. Genet Med. 2018. PMID: 28661489 Free article.
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy.
Bodian DL, Vilboux T, Hourigan SK, Jenevein CL, Mani H, Kent KC, Khromykh A, Solomon BD, Hauser NS. Bodian DL, et al. Among authors: hauser ns. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):a002055. doi: 10.1101/mcs.a002055. Print 2017 Nov. Cold Spring Harb Mol Case Stud. 2017. PMID: 28701297 Free PMC article.
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çağlayan AO, Najafi M, Stanley V, Boustany RM, Yeşil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M. Rad A, et al. J Med Genet. 2019 May;56(5):332-339. doi: 10.1136/jmedgenet-2018-105623. Epub 2018 Nov 28. J Med Genet. 2019. PMID: 30487245 Free PMC article.
45 results