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Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H, Bertoli-Avella AM, Skrahina V, Anjum MN, Waheed N, Saeed A, Beetz C, Perez-Lopez J, Rocha ME, Alawbathani S, Pereira C, Hovakimyan M, Patric IRP, Paknia O, Ameziane N, Cozma C, Bauer P, Rolfs A. Cheema H, et al. Among authors: bauer p. NPJ Genom Med. 2020 Oct 5;5:44. doi: 10.1038/s41525-020-00150-z. eCollection 2020. NPJ Genom Med. 2020. PMID: 33083013 Free PMC article.
Unmet needs in human genomic variant interpretation.
Bauer P, Karges E, Oprea G, Rolfs A. Bauer P, et al. Genet Med. 2018 Mar;20(3):376-377. doi: 10.1038/gim.2017.187. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261185 Free article. No abstract available.
Expanding the clinical and genetic spectra of NKX6-2-related disorder.
Baldi C, Bertoli-Avella AM, Al-Sannaa N, Alfadhel M, Al-Thihli K, Alameer S, Elmonairy AA, Al Shamsi AM, Abdelrahman HA, Al-Gazali L, Shawli A, Al-Hakami F, Yavuz H, Kandaswamy KK, Rolfs A, Brandau O, Bauer P. Baldi C, et al. Among authors: bauer p. Clin Genet. 2018 May;93(5):1087-1092. doi: 10.1111/cge.13221. Clin Genet. 2018. PMID: 29388673
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
Bertoli-Avella AM, Garcia-Aznar JM, Brandau O, Al-Hakami F, Yüksel Z, Marais A, Grüning NM, Abbasi Moheb L, Paknia O, Alshaikh N, Alameer S, Marafi MJ, Al-Mulla F, Al-Sannaa N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: bauer p. Eur J Hum Genet. 2018 Apr;26(4):592-598. doi: 10.1038/s41431-018-0097-3. Epub 2018 Feb 15. Eur J Hum Genet. 2018. PMID: 29449720 Free PMC article.
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. 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.
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D. Bramswig NC, et al. Among authors: bauer p. Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23. Hum Genet. 2018. PMID: 30167850 Free PMC article.
Utility and implications of exome sequencing in early-onset Parkinson's disease.
Trinh J, Lohmann K, Baumann H, Balck A, Borsche M, Brüggemann N, Dure L, Dean M, Volkmann J, Tunc S, Prasuhn J, Pawlack H, Imhoff S, Lill CM, Kasten M, Bauer P, Rolfs A; International Parkinson's Disease Genomics Consortium (IPDGC); Klein C. Trinh J, et al. Among authors: bauer p. Mov Disord. 2019 Jan;34(1):133-137. doi: 10.1002/mds.27559. Epub 2018 Dec 10. Mov Disord. 2019. PMID: 30537300 Free PMC article.
1,620 results