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Page 1
Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort.
Becker J, Czamara D, Scerri TS, Ramus F, Csépe V, Talcott JB, Stein J, Morris A, Ludwig KU, Hoffmann P, Honbolygó F, Tóth D, Fauchereau F, Bogliotti C, Iannuzzi S, Chaix Y, Valdois S, Billard C, George F, Soares-Boucaud I, Gérard CL, van der Mark S, Schulz E, Vaessen A, Maurer U, Lohvansuu K, Lyytinen H, Zucchelli M, Brandeis D, Blomert L, Leppänen PH, Bruder J, Monaco AP, Müller-Myhsok B, Kere J, Landerl K, Nöthen MM, Schulte-Körne G, Paracchini S, Peyrard-Janvid M, Schumacher J. Becker J, et al. Eur J Hum Genet. 2014 May;22(5):675-80. doi: 10.1038/ejhg.2013.199. Epub 2013 Sep 11. Eur J Hum Genet. 2014. PMID: 24022301 Free PMC article.
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Hempel M, Cremer K, Ockeloen CW, Lichtenbelt KD, Herkert JC, Denecke J, Haack TB, Zink AM, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, Strom TM, van Gassen KL, Kleefstra T, Kubisch C, Engels H, Lessel D. Hempel M, et al. Among authors: becker j. Am J Hum Genet. 2015 Sep 3;97(3):493-500. doi: 10.1016/j.ajhg.2015.08.003. Am J Hum Genet. 2015. PMID: 26340335 Free PMC article.
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
Ehret JK, Engels H, Cremer K, Becker J, Zimmermann JP, Wohlleber E, Grasshoff U, Rossier E, Bonin M, Mangold E, Bevot A, Schön S, Heilmann-Heimbach S, Dennert N, Mathieu-Dramard M, Lacaze E, Plessis G, de Broca A, Jedraszak G, Röthlisberger B, Miny P, Filges I, Dufke A, Andrieux J, Lee JA, Zink AM. Ehret JK, et al. Among authors: becker j. Mol Cytogenet. 2015 Sep 29;8:72. doi: 10.1186/s13039-015-0178-8. eCollection 2015. Mol Cytogenet. 2015. PMID: 26421060 Free PMC article.
Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate.
Klamt J, Hofmann A, Böhmer AC, Hoebel AK, Gölz L, Becker J, Zink AM, Draaken M, Hemprich A, Scheer M, Schmidt G, Martini M, Knapp M, Mangold E, Degenhardt F, Ludwig KU. Klamt J, et al. Among authors: becker j. Birth Defects Res A Clin Mol Teratol. 2016 Sep;106(9):767-72. doi: 10.1002/bdra.23539. Epub 2016 Jul 7. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 27384521
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Dennert N, Engels H, Cremer K, Becker J, Wohlleber E, Albrecht B, Ehret JK, Lüdecke HJ, Suri M, Carignani G, Renieri A, Kukuk GM, Wieland T, Andrieux J, Strom TM, Wieczorek D, Dieux-Coëslier A, Zink AM. Dennert N, et al. Among authors: becker j. Am J Med Genet A. 2017 Feb;173(2):435-443. doi: 10.1002/ajmg.a.38034. Epub 2016 Nov 14. Am J Med Genet A. 2017. PMID: 27862890 Review.
De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia.
Dworschak GC, Engels H, Becker J, Soellner L, Eggermann T, Kipfmueller F, Müller A, Reutter H, Kreiß M. Dworschak GC, et al. Among authors: becker j. Front Pediatr. 2018 Apr 25;6:116. doi: 10.3389/fped.2018.00116. eCollection 2018. Front Pediatr. 2018. PMID: 29922638 Free PMC article.
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Windheuser IC, Becker J, Cremer K, Hundertmark H, Yates LM, Mangold E, Peters S, Degenhardt F, Ludwig KU, Zink AM, Lessel D, Bierhals T, Herget T, Johannsen J, Denecke J, Wohlleber E, Strom TM, Wieczorek D, Bertoli M, Colombo R, Hempel M, Engels H. Windheuser IC, et al. Among authors: becker j. Am J Med Genet A. 2020 May;182(5):1021-1031. doi: 10.1002/ajmg.a.61515. Epub 2020 Feb 17. Am J Med Genet A. 2020. PMID: 32065501
5,077 results