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Page 1
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P, Horn AHC, Steindl K, Baumer A, Joset P, Kraemer D, Bahr A, Ivanovski I, Cabello EM, Papik M, Zweier M, Oneda B, Sirleto P, Burkhardt T, Sticht H, Rauch A. Boonsawat P, et al. Among authors: steindl k. NPJ Genom Med. 2022 Jul 29;7(1):45. doi: 10.1038/s41525-022-00316-x. NPJ Genom Med. 2022. PMID: 35906228 Free PMC article.
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: steindl k. Prenat Diagn. 2014 Jun;34(6):525-33. doi: 10.1002/pd.4342. Epub 2014 Mar 21. Prenat Diagn. 2014. PMID: 24919595
The clinical significance of small copy number variants in neurodevelopmental disorders.
Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, Cobilanschi J, Sticht H, Baldinger R, Reissmann R, Sudholt I, Thiel CT, Ekici AB, Reis A, Bijlsma EK, Andrieux J, Dieux A, FitzPatrick D, Ritter S, Baumer A, Latal B, Plecko B, Jenni OG, Rauch A. Asadollahi R, et al. Among authors: steindl k. J Med Genet. 2014 Oct;51(10):677-88. doi: 10.1136/jmedgenet-2014-102588. Epub 2014 Aug 8. J Med Genet. 2014. PMID: 25106414 Free PMC article.
Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities.
Oneda B, Steindl K, Masood R, Reshetnikova I, Krejci P, Baldinger R, Reissmann R, Taralczak M, Guetg A, Wisser J, Fauchère JC, Rauch A. Oneda B, et al. Among authors: steindl k. Eur J Obstet Gynecol Reprod Biol. 2016 May;200:72-5. doi: 10.1016/j.ejogrb.2016.02.042. Epub 2016 Mar 8. Eur J Obstet Gynecol Reprod Biol. 2016. PMID: 26989803
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.
Reuter MS, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, Steindl K, Gläser D, Joset P; DDD Study; Krumbiegel M, Rabe H, Schulte-Mattler U, Bauer P, Beck-Wödl S, Kohlhase J, Reis A, Zweier C. Reuter MS, et al. Among authors: steindl k. J Med Genet. 2017 Jan;54(1):64-72. doi: 10.1136/jmedgenet-2016-104094. Epub 2016 Aug 29. J Med Genet. 2017. PMID: 27572252
103 results