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Page 1
Nosology of genetic skeletal disorders: 2023 revision.
Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Unger S, et al. Among authors: mundlos s. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13. Am J Med Genet A. 2023. PMID: 36779427 Free PMC article.
A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.
Álvarez LFG, Tenorio-Castaño J, Poletta FA, Santos-Simarro F, Arias P, Gallego N, Orioli IM, Mundlos S, Castilla EE, Martínez-Glez V, Martínez-Frías ML, Ruiz-Pérez VL, Nevado J, Lapunzina P. Álvarez LFG, et al. Among authors: mundlos s. Am J Med Genet A. 2023 Jan;191(1):100-107. doi: 10.1002/ajmg.a.62994. Epub 2022 Oct 29. Am J Med Genet A. 2023. PMID: 36308343
Parallel sequencing of extrachromosomal circular DNAs and transcriptomes in single cancer cells.
Chamorro González R, Conrad T, Stöber MC, Xu R, Giurgiu M, Rodriguez-Fos E, Kasack K, Brückner L, van Leen E, Helmsauer K, Dorado Garcia H, Stefanova ME, Hung KL, Bei Y, Schmelz K, Lodrini M, Mundlos S, Chang HY, Deubzer HE, Sauer S, Eggert A, Schulte JH, Schwarz RF, Haase K, Koche RP, Henssen AG. Chamorro González R, et al. Among authors: mundlos s. Nat Genet. 2023 May;55(5):880-890. doi: 10.1038/s41588-023-01386-y. Epub 2023 May 4. Nat Genet. 2023. PMID: 37142849 Free PMC article.
AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology.
Klever MK, Sträng E, Hetzel S, Jungnitsch J, Dolnik A, Schöpflin R, Schrezenmeier JF, Schick F, Blau O, Westermann J, Rücker FG, Xia Z, Döhner K, Schrezenmeier H, Spielmann M, Meissner A, Melo US, Mundlos S, Bullinger L. Klever MK, et al. Among authors: mundlos s. Blood Adv. 2023 Nov 14;7(21):6520-6531. doi: 10.1182/bloodadvances.2023010887. Blood Adv. 2023. PMID: 37582288 Free PMC article.
REEV: review, evaluate and explain variants.
Hramyka D, Sczakiel HL, Zhao MX, Stolpe O, Nieminen M, Adam R, Danyel M, Einicke L, Hägerling R, Knaus A, Mundlos S, Schwartzmann S, Seelow D, Ehmke N, Mensah MA, Boschann F, Beule D, Holtgrewe M. Hramyka D, et al. Among authors: mundlos s. Nucleic Acids Res. 2024 May 20:gkae366. doi: 10.1093/nar/gkae366. Online ahead of print. Nucleic Acids Res. 2024. PMID: 38769069
Whole genome sequencing in families with oligodontia.
Mitscherling J, Sczakiel HL, Kiskemper-Nestorjuk O, Winterhalter S, Mundlos S, Bartzela T, Mensah MA. Mitscherling J, et al. Among authors: mundlos s. Oral Dis. 2023 Dec 9. doi: 10.1111/odi.14816. Online ahead of print. Oral Dis. 2023. PMID: 38071191
398 results