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De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Am J Hum Genet. 2019 Jul 3;105(1):213-220. doi: 10.1016/j.ajhg.2019.05.005. Epub 2019 Jun 20.
Am J Hum Genet. 2019.
PMID: 31230721
Free PMC article.
Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.
Trinh J, Kandaswamy KK, Werber M, Weiss MER, Oprea G, Kishore S, Lohmann K, Rolfs A.
Trinh J, et al. Among authors: weiss mer.
J Neurodev Disord. 2019 Jun 25;11(1):11. doi: 10.1186/s11689-019-9270-4.
J Neurodev Disord. 2019.
PMID: 31238879
Free PMC article.
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Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R.
Trujillano D, et al.
Eur J Hum Genet. 2017 Feb;25(2):176-182. doi: 10.1038/ejhg.2016.146. Epub 2016 Nov 16.
Eur J Hum Genet. 2017.
PMID: 27848944
Free PMC article.
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Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.
Bauer P, Kandaswamy KK, Weiss MER, Paknia O, Werber M, Bertoli-Avella AM, Yüksel Z, Bochinska M, Oprea GE, Kishore S, Weckesser V, Karges E, Rolfs A.
Bauer P, et al. Among authors: weiss mer.
Genet Med. 2019 Jan;21(1):53-61. doi: 10.1038/s41436-018-0016-6. Epub 2018 Aug 13.
Genet Med. 2019.
PMID: 30100613
Free PMC article.
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Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Trujillano D, Weiss ME, Köster J, Papachristos EB, Werber M, Kandaswamy KK, Marais A, Eichler S, Creed J, Baysal E, Jaber IY, Mehaney DA, Farra C, Rolfs A.
Trujillano D, et al.
Mol Genet Genomic Med. 2015 Sep;3(5):396-403. doi: 10.1002/mgg3.149. Epub 2015 Apr 16.
Mol Genet Genomic Med. 2015.
PMID: 26436105
Free PMC article.
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Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.
Trujillano D, Weiss ME, Schneider J, Köster J, Papachristos EB, Saviouk V, Zakharkina T, Nahavandi N, Kovacevic L, Rolfs A.
Trujillano D, et al.
J Mol Diagn. 2015 Mar;17(2):162-70. doi: 10.1016/j.jmoldx.2014.11.004. Epub 2014 Dec 31.
J Mol Diagn. 2015.
PMID: 25556971
Free article.
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Prediction uncertainty estimates elucidate the limitation of current NSCLC subtype classification in representing mutational heterogeneity.
Puiu A, Gómez Tapia C, Weiss MER, Singh V, Kamen A, Siebert M.
Puiu A, et al. Among authors: weiss mer.
Sci Rep. 2024 Mar 21;14(1):6779. doi: 10.1038/s41598-024-57057-3.
Sci Rep. 2024.
PMID: 38514696
Free PMC article.
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