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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.
Hüffmeier U, Kraus C, Reuter MS, Uebe S, Abbott MA, Ahmed SA, Rawson KL, Barr E, Li H, Bruel AL, Faivre L, Tran Mau-Them F, Botti C, Brooks S, Burns K, Ward DI, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Nelson SF; UCLA California Center for Rare Disease; Zacher P, Abou Jamra R, Klöckner C, McGaughran J, Kohlhase J, Schuhmann S, Moran E, Pappas J, Raas-Rothschild A, Sacoto MJG, Henderson LB, Palculict TB, Mullegama SV, Zghal Elloumi H, Reich A, Schrier Vergano SA, Wahl E, Reis A, Zweier C. Hüffmeier U, et al. Among authors: brooks s. Orphanet J Rare Dis. 2021 Mar 18;16(1):136. doi: 10.1186/s13023-021-01744-1. Orphanet J Rare Dis. 2021. PMID: 33736665 Free PMC article.
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
Bain JM, Cho MT, Telegrafi A, Wilson A, Brooks S, Botti C, Gowans G, Autullo LA, Krishnamurthy V, Willing MC, Toler TL, Ben-Zev B, Elpeleg O, Shen Y, Retterer K, Monaghan KG, Chung WK. Bain JM, et al. Among authors: brooks s. Am J Hum Genet. 2016 Sep 1;99(3):728-734. doi: 10.1016/j.ajhg.2016.06.028. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545675 Free PMC article.
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
Morris-Rosendahl DJ, Segel R, Born AP, Conrad C, Loeys B, Brooks SS, Müller L, Zeschnigk C, Botti C, Rabinowitz R, Uyanik G, Crocq MA, Kraus U, Degen I, Faes F. Morris-Rosendahl DJ, et al. Eur J Hum Genet. 2010 Oct;18(10):1100-6. doi: 10.1038/ejhg.2010.79. Epub 2010 May 26. Eur J Hum Genet. 2010. PMID: 20512159 Free PMC article.
2,430 results