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Page 1
Trio exome sequencing is highly relevant in prenatal diagnostics.
Gabriel H, Korinth D, Ritthaler M, Schulte B, Battke F, von Kaisenberg C, Wüstemann M, Schulze B, Friedrich-Freksa A, Pfeiffer L, Entezami M, Schröer A, Bürger J, Schwaibold EMC, Lebek H, Biskup S. Gabriel H, et al. Among authors: schulte b. Prenat Diagn. 2022 Jun;42(7):845-851. doi: 10.1002/pd.6081. Epub 2021 Dec 27. Prenat Diagn. 2022. PMID: 34958143 Free PMC article.
The question of WGS's clinical utility remains unanswered.
Battke F, Schulte B, Schulze M, Biskup S. Battke F, et al. Among authors: schulte b. Eur J Hum Genet. 2021 May;29(5):722-723. doi: 10.1038/s41431-021-00823-y. Epub 2021 Feb 17. Eur J Hum Genet. 2021. PMID: 33597733 Free PMC article. No abstract available.
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M. Tropitzsch A, et al. Among authors: schulte b. Ear Hear. 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. Ear Hear. 2022. PMID: 34753855 Free PMC article.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Scala M, et al. Among authors: schulte b. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. Brain. 2022. PMID: 35851598 Free PMC article.
592 results