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Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing.
Oneda B, Sirleto P, Baldinger R, Taralczak M, Joset P, Zweier M, Niedrist D, Azzarello-Burri S, Britschgi C, Breymann C, Ochsenbein-Kölble N, Burkhardt T, Wisser J, Zimmermann R, Steindl K, Rauch A. Oneda B, et al. Among authors: niedrist d. Eur J Obstet Gynecol Reprod Biol. 2020 Sep;252:19-29. doi: 10.1016/j.ejogrb.2020.05.070. Epub 2020 Jun 2. Eur J Obstet Gynecol Reprod Biol. 2020. PMID: 32619881
High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power.
Oneda B, Baldinger R, Reissmann R, Reshetnikova I, Krejci P, Masood R, Ochsenbein-Kölble N, Bartholdi D, Steindl K, Morotti D, Faranda M, Baumer A, Asadollahi R, Joset P, Niedrist D, Breymann C, Hebisch G, Hüsler M, Mueller R, Prentl E, Wisser J, Zimmermann R, Rauch A. Oneda B, et al. Among authors: niedrist d. Prenat Diagn. 2014 Jun;34(6):525-33. doi: 10.1002/pd.4342. Epub 2014 Mar 21. Prenat Diagn. 2014. PMID: 24919595
Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.
Oneda B, Asadollahi R, Azzarello-Burri S, Niedrist D, Baldinger R, Masood R, Schinzel A, Latal B, Jenni OG, Rauch A. Oneda B, et al. Among authors: niedrist d. Mol Syndromol. 2017 Aug;8(5):266-271. doi: 10.1159/000477189. Epub 2017 Jun 13. Mol Syndromol. 2017. PMID: 28878611 Free PMC article.
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A. Asadollahi R, et al. Among authors: niedrist d. Eur J Hum Genet. 2018 Feb;26(2):197-209. doi: 10.1038/s41431-017-0019-9. Epub 2018 Jan 10. Eur J Hum Genet. 2018. PMID: 29321670 Free PMC article.
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri S, Sheth F, Datar C, Verma IC, Puri RD, Zollino M, Bachmann-Gagescu R, Niedrist D, Papik M, Figueiro-Silva J, Masood R, Zweier M, Kraemer D, Lincoln S, Rodan L; Undiagnosed Diseases Network (UDN); Passemard S, Drunat S, Verloes A, Horn AHC, Sticht H, Steinfeld R, Plecko B, Latal B, Jenni O, Asadollahi R, Rauch A. Boonsawat P, et al. Among authors: niedrist d. Genet Med. 2019 Sep;21(9):2043-2058. doi: 10.1038/s41436-019-0464-7. Epub 2019 Mar 7. Genet Med. 2019. PMID: 30842647 Free PMC article.
[Basic aspects of medical genetics].
Pajarola S, Bachmann R, Niedrist D, Rauch A. Pajarola S, et al. Among authors: niedrist d. Praxis (Bern 1994). 2013 Nov 27;102(24):1457-65. doi: 10.1024/1661-8157/a001487. Praxis (Bern 1994). 2013. PMID: 24280602 Review. German.
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.
Gerth-Kahlert C, Tiwari A, Hanson JVM, Batmanabane V, Traboulsi E, Pennesi ME, Al-Qahtani AA, Lam BL, Heckenlively J, Zweifel SA, Vincent A, Fierz F, Barthelmes D, Branham K, Khan N, Bahr A, Baehr L, Magyar I, Koller S, Azzarello-Burri S, Niedrist D, Heon E, Berger W. Gerth-Kahlert C, et al. Among authors: niedrist d. Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):3840-3850. doi: 10.1167/iovs.17-21597. Invest Ophthalmol Vis Sci. 2017. PMID: 28763557 Free article.
Survival with trisomy 18--data from Switzerland.
Niedrist D, Riegel M, Achermann J, Schinzel A. Niedrist D, et al. Am J Med Genet A. 2006 May 1;140(9):952-9. doi: 10.1002/ajmg.a.31172. Am J Med Genet A. 2006. PMID: 16528741
19 results