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Genetic testing for the epilepsies: A systematic review.
Sheidley BR, Malinowski J, Bergner AL, Bier L, Gloss DS, Mu W, Mulhern MM, Partack EJ, Poduri A. Sheidley BR, et al. Among authors: bergner al. Epilepsia. 2022 Feb;63(2):375-387. doi: 10.1111/epi.17141. Epub 2021 Dec 10. Epilepsia. 2022. PMID: 34893972
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Legius E, et al. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. Genet Med. 2021. PMID: 34012067 Free PMC article.
Increased risk of breast cancer in women with NF1.
Madanikia SA, Bergner A, Ye X, Blakeley JO. Madanikia SA, et al. Am J Med Genet A. 2012 Dec;158A(12):3056-60. doi: 10.1002/ajmg.a.35550. Epub 2012 Nov 19. Am J Med Genet A. 2012. PMID: 23165953 Free PMC article.
Creation of an international registry to support discovery in schwannomatosis.
Ostrow KL, Bergner AL, Blakeley J, Evans DG, Ferner R, Friedman JM, Harris GJ, Jordan JT, Korf B, Langmead S, Leschziner G, Mautner V, Merker VL, Papi L, Plotkin SR, Slopis JM, Smith MJ, Stemmer-Rachamimov A, Yohay K, Belzberg AJ. Ostrow KL, et al. Among authors: bergner al. Am J Med Genet A. 2017 Feb;173(2):407-413. doi: 10.1002/ajmg.a.38024. Epub 2016 Oct 19. Am J Med Genet A. 2017. PMID: 27759912
Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results.
Berrios C, James CA, Raraigh K, Bollinger J, Murray B, Tichnell C, Applegate CD, Bergner AL. Berrios C, et al. Among authors: bergner al. J Genet Couns. 2018 Feb;27(1):263-273. doi: 10.1007/s10897-017-0143-2. Epub 2017 Sep 20. J Genet Couns. 2018. PMID: 28932961 Free PMC article.
41 results