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Page 1
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Õunap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietiläinen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E; DDD Study; Sticht H, Gregor A, Van Esch H, Zweier C. Konrad EDH, et al. Among authors: legius e. Genet Med. 2019 Dec;21(12):2723-2733. doi: 10.1038/s41436-019-0585-z. Epub 2019 Jun 26. Genet Med. 2019. PMID: 31239556 Free PMC article.
Clinical and molecular aspects of RAS related disorders.
Denayer E, de Ravel T, Legius E. Denayer E, et al. Among authors: legius e. J Med Genet. 2008 Nov;45(11):695-703. doi: 10.1136/jmg.2007.055772. Epub 2008 Jun 11. J Med Genet. 2008. PMID: 18550698 Review.
Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
Stewart DR, Brems H, Gomes AG, Ruppert SL, Callens T, Williams J, Claes K, Bober MB, Hachen R, Kaban LB, Li H, Lin A, McDonald M, Melancon S, Ortenberg J, Radtke HB, Samson I, Saul RA, Shen J, Siqveland E, Toler TL, van Maarle M, Wallace M, Williams M, Legius E, Messiaen L. Stewart DR, et al. Among authors: legius e. Genet Med. 2014 Jun;16(6):448-59. doi: 10.1038/gim.2013.163. Epub 2013 Nov 14. Genet Med. 2014. PMID: 24232412 Free article.
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management.
Bayindir B, Dehaspe L, Brison N, Brady P, Ardui S, Kammoun M, Van der Veken L, Lichtenbelt K, Van den Bogaert K, Van Houdt J, Peeters H, Van Esch H, de Ravel T, Legius E, Devriendt K, Vermeesch JR. Bayindir B, et al. Among authors: legius e. Eur J Hum Genet. 2015 Oct;23(10):1286-93. doi: 10.1038/ejhg.2014.282. Epub 2015 Jan 14. Eur J Hum Genet. 2015. PMID: 25585704 Free PMC article.
Clinical implementation of NIPT - technical and biological challenges.
Brady P, Brison N, Van Den Bogaert K, de Ravel T, Peeters H, Van Esch H, Devriendt K, Legius E, Vermeesch JR. Brady P, et al. Among authors: legius e. Clin Genet. 2016 May;89(5):523-30. doi: 10.1111/cge.12598. Epub 2015 May 4. Clin Genet. 2016. PMID: 25867715 Review.
Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies.
Brison N, Van Den Bogaert K, Dehaspe L, van den Oever JM, Janssens K, Blaumeiser B, Peeters H, Van Esch H, Van Buggenhout G, Vogels A, de Ravel T, Legius E, Devriendt K, Vermeesch JR. Brison N, et al. Among authors: legius e. Genet Med. 2017 Mar;19(3):306-313. doi: 10.1038/gim.2016.113. Epub 2016 Sep 1. Genet Med. 2017. PMID: 27584908 Free article.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM. Koczkowska M, et al. Among authors: legius e. Am J Hum Genet. 2018 Jan 4;102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28. Am J Hum Genet. 2018. PMID: 29290338 Free PMC article.
332 results