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Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.
Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P, Chaker-Margot M, Barlogis V, Briggs T, Colino E, Elmore AC, Fischer A, Genel F, Hewlett A, Jedidi M, Kelecic J, Krüger R, Ku CL, Kumararatne D, Lefevre-Utile A, Loughlin S, Mahlaoui N, Markus S, Garcia JM, Nizon M, Oleastro M, Pac M, Picard C, Pollard AJ, Rodriguez-Gallego C, Thomas C, Von Bernuth H, Worth A, Meyts I, Risolino M, Selleri L, Puel A, Klinge S, Abel L, Casanova JL. Bolze A, et al. Among authors: markus s. Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8007-E8016. doi: 10.1073/pnas.1805437115. Epub 2018 Aug 2. Proc Natl Acad Sci U S A. 2018. PMID: 30072435 Free PMC article.
Genome sequencing in families with congenital limb malformations.
Elsner J, Mensah MA, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, Coutelier M, de Silva DC, Elçioglu N, Filges I, Gerkes E, Girisha KM, Graul-Neumann L, Jamsheer A, Krawitz P, Kurth I, Markus S, Megarbane A, Reis A, Reuter MS, Svoboda D, Teller C, Tuysuz B, Türkmen S, Wilson M, Woitschach R, Vater I, Caliebe A, Hülsemann W, Horn D, Mundlos S, Spielmann M. Elsner J, et al. Among authors: markus s. Hum Genet. 2021 Aug;140(8):1229-1239. doi: 10.1007/s00439-021-02295-y. Epub 2021 Jun 22. Hum Genet. 2021. PMID: 34159400 Free PMC article.
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, Kennerknecht I, Müller-Hofstede C, Charbel Issa P, Heller R, Beck B, Rüther K, Mitter D, Rohrschneider K, Steinhauer U, Korbmacher HM, Huhle D, Elsayed SM, Taha HM, Baig SM, Stöhr H, Preising M, Markus S, Moeller F, Lorenz B, Nagel-Wolfrum K, Khan AO, Bolz HJ. Neuhaus C, et al. Among authors: markus s. Mol Genet Genomic Med. 2017 Jul 6;5(5):531-552. doi: 10.1002/mgg3.312. eCollection 2017 Sep. Mol Genet Genomic Med. 2017. PMID: 28944237 Free PMC article.
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.
Chen W, Ullmann R, Langnick C, Menzel C, Wotschofsky Z, Hu H, Döring A, Hu Y, Kang H, Tzschach A, Hoeltzenbein M, Neitzel H, Markus S, Wiedersberg E, Kistner G, van Ravenswaaij-Arts CM, Kleefstra T, Kalscheuer VM, Ropers HH. Chen W, et al. Among authors: markus s. Eur J Hum Genet. 2010 May;18(5):539-43. doi: 10.1038/ejhg.2009.211. Epub 2009 Dec 2. Eur J Hum Genet. 2010. PMID: 19953122 Free PMC article.
Diagnostic value of partial exome sequencing in developmental disorders.
Gieldon L, Mackenroth L, Kahlert AK, Lemke JR, Porrmann J, Schallner J, von der Hagen M, Markus S, Weidensee S, Novotna B, Soerensen C, Klink B, Wagner J, Tzschach A, Jahn A, Kuhlee F, Hackmann K, Schrock E, Di Donato N, Rump A. Gieldon L, et al. Among authors: markus s. PLoS One. 2018 Aug 9;13(8):e0201041. doi: 10.1371/journal.pone.0201041. eCollection 2018. PLoS One. 2018. PMID: 30091983 Free PMC article.
Correction: Diagnostic value of partial exome sequencing in developmental disorders.
Gieldon L, Mackenroth L, Kahlert AK, Lemke JR, Porrmann J, Schallner J, von der Hagen M, Markus S, Weidensee S, Novotna B, Soerensen C, Klink B, Wagner J, Tzschach A, Jahn A, Kuhlee F, Hackmann K, Schrock E, Di Donato N, Rump A. Gieldon L, et al. Among authors: markus s. PLoS One. 2020 Sep 24;15(9):e0239959. doi: 10.1371/journal.pone.0239959. eCollection 2020. PLoS One. 2020. PMID: 32970766 Free PMC article.
84 results