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Page 1
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leó-Crutchlow DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D. Yap KL, et al. Among authors: fischer d. Genet Med. 2019 Jan;21(1):233-242. doi: 10.1038/s41436-018-0013-9. Epub 2018 Jun 15. Genet Med. 2019. PMID: 29907798 Free PMC article.
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Warman-Chardon J, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S. Sun M, et al. Among authors: fischer d. Genet Med. 2019 Jan;21(1):195-206. doi: 10.1038/s41436-018-0007-7. Epub 2018 Jun 18. Genet Med. 2019. PMID: 29915382 Free PMC article.
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".
Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leon DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D. Yap KL, et al. Among authors: fischer d. Genet Med. 2019 Jan;21(1):262-265. doi: 10.1038/s41436-018-0126-1. Genet Med. 2019. PMID: 30097611 Free article.
Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma.
Panou V, Gadiraju M, Wolin A, Weipert CM, Skarda E, Husain AN, Patel JD, Rose B, Zhang SR, Weatherly M, Nelakuditi V, Knight Johnson A, Helgeson M, Fischer D, Desai A, Sulai N, Ritterhouse L, Røe OD, Turaga KK, Huo D, Segal J, Kadri S, Li Z, Kindler HL, Churpek JE. Panou V, et al. Among authors: fischer d. J Clin Oncol. 2018 Oct 1;36(28):2863-2871. doi: 10.1200/JCO.2018.78.5204. Epub 2018 Aug 16. J Clin Oncol. 2018. PMID: 30113886 Free PMC article.
FOGS: A SNPSTR Marker Database to Combat Wildlife Trafficking and a Cell Culture Bank for Ex-Situ Conservation.
Mozer A, Di-Nizo CB, Consul A, Huettel B, Jäger R, Akintayo A, Erhardt C, Fenner L, Fischer D, Forat S, Gimnich F, Grobe P, Martin S, Nathan V, Saeed A, von der Mark L, Woehle C, Olek K, Misof B, Astrin JJ. Mozer A, et al. Among authors: fischer d. Mol Ecol Resour. 2025 Jan 10:e14062. doi: 10.1111/1755-0998.14062. Online ahead of print. Mol Ecol Resour. 2025. PMID: 39794918
A creatine efflux transporter in oligodendrocytes.
Flögel S, Strater M, Fischer D, Gründemann D. Flögel S, et al. Among authors: fischer d. FEBS J. 2025 Jan 10. doi: 10.1111/febs.17382. Online ahead of print. FEBS J. 2025. PMID: 39792585
Spinal cord gray matter atrophy is associated with disability in spinal muscular atrophy.
Kesenheimer EM, Wendebourg MJ, Weidensteiner C, Sander L, Weigel M, Haas T, Fischer D, Neuwirth C, Braun N, Weber M, Granziera C, Sinnreich M, Bieri O, Schlaeger R. Kesenheimer EM, et al. Among authors: fischer d. J Neurol. 2025 Jan 7;272(1):102. doi: 10.1007/s00415-024-12740-3. J Neurol. 2025. PMID: 39775109 Free PMC article.
2,410 results