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Page 1
Exome Sequencing in Children.
Mahler EA, Johannsen J, Tsiakas K, Kloth K, Lüttgen S, Mühlhausen C, Alhaddad B, Haack TB, Strom TM, Kortüm F, Meitinger T, Muntau AC, Santer R, Kubisch C, Lessel D, Denecke J, Hempel M. Mahler EA, et al. Among authors: kloth k. Dtsch Arztebl Int. 2019 Mar 22;116(12):197-204. doi: 10.3238/arztebl.2019.0197. Dtsch Arztebl Int. 2019. PMID: 31056085 Free PMC article.
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
van der Ven AT, Johannsen J, Kortüm F, Wagner M, Tsiakas K, Bierhals T, Lessel D, Herget T, Kloth K, Lisfeld J, Scholz T, Obi N, Wortmann S, Prokisch H, Kubisch C, Denecke J, Santer R, Hempel M. van der Ven AT, et al. Among authors: kloth k. Clin Genet. 2021 Dec;100(6):766-770. doi: 10.1111/cge.14061. Epub 2021 Sep 19. Clin Genet. 2021. PMID: 34490615
Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
Scholz T, Blohm ME, Kortüm F, Bierhals T, Lessel D, van der Ven AT, Lisfeld J, Herget T, Kloth K, Singer D, Perez A, Obi N, Johannsen J, Denecke J, Santer R, Kubisch C, Deindl P, Hempel M. Scholz T, et al. Among authors: kloth k. Neonatology. 2021;118(4):454-461. doi: 10.1159/000516890. Epub 2021 Jul 8. Neonatology. 2021. PMID: 34237744
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Among authors: kloth k. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Nat Commun. 2018. PMID: 30397230 Free PMC article.
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