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| Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation SR Plotkin, L Messiaen, E Legius, P Pancza, RA Avery, JO Blakeley, ... Genetics in Medicine 24 (9), 1967-1977, 2022 | 145 | 2022 |
| Increased risk of breast cancer in women with NF1 SA Madanikia, A Bergner, X Ye, JON Blakeley American journal of medical genetics Part A 158 (12), 3056-3060, 2012 | 143 | 2012 |
| Genetic testing for the epilepsies: a systematic review BR Sheidley, J Malinowski, AL Bergner, L Bier, DS Gloss, W Mu, ... Epilepsia 63 (2), 375-387, 2022 | 97 | 2022 |
| Spectrum and prevalence of vasculopathy in pediatric neurofibromatosis type 1 B Kaas, TAGM Huisman, A Tekes, A Bergner, JO Blakeley, LC Jordan Journal of Child Neurology 28 (5), 561-569, 2013 | 89 | 2013 |
| 2013 review and update of the genetic counseling practice based competencies by a task force of the accreditation council for genetic counseling DL Doyle, RI Awwad, JC Austin, BJ Baty, AL Bergner, SJ Brewster, ... Journal of Genetic Counseling 25 (5), 868-879, 2016 | 69 | 2016 |
| Mutation analysis of B3GALTL in Peters Plus syndrome LM Reis, RC Tyler, O Abdul‐Rahman, P Trapane, R Wallerstein, ... American Journal of Medical Genetics Part A 146 (20), 2603-2610, 2008 | 65 | 2008 |
| Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria HJ Vernon, CB Koerner, MR Johnson, A Bergner, A Hamosh Molecular genetics and metabolism 100 (3), 229-233, 2010 | 60 | 2010 |
| Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials PL Wolters, S Martin, VL Merker, JH Tonsgard, SE Solomon, A Baldwin, ... Neurology 87 (7_Supplement_1), S4-S12, 2016 | 51 | 2016 |
| Informed consent for exome sequencing research in families with genetic disease: the emerging issue of incidental findings AL Bergner, J Bollinger, KS Raraigh, C Tichnell, B Murray, CL Blout, ... American Journal of Medical Genetics Part A 164 (11), 2745-2752, 2014 | 47 | 2014 |
| Clinical response to bevacizumab in schwannomatosis J Blakeley, KC Schreck, DG Evans, BR Korf, D Zagzag, MA Karajannis, ... Neurology 83 (21), 1986-1987, 2014 | 41 | 2014 |
| Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease K Fiallos, C Applegate, DJH Mathews, J Bollinger, AL Bergner, CA James European Journal of Human Genetics 25 (5), 530-537, 2017 | 40 | 2017 |
| Enrolling genomics research participants through a clinical setting: the impact of existing clinical relationships on informed consent and expectations for return of research … C Berrios, CA James, K Raraigh, J Bollinger, B Murray, C Tichnell, ... Journal of genetic counseling 27, 263-273, 2018 | 29 | 2018 |
| Health-related quality of life of individuals with neurofibromatosis type 2: results from the NF2 natural history study VL Merker, AL Bergner, AM Vranceanu, A Muzikansky, W Slattery III, ... Otology & Neurotology 37 (5), 574-579, 2016 | 27 | 2016 |
| Dystrophic spinal deformities in a neurofibromatosis type 1 murine model SD Rhodes, W Zhang, D Yang, H Yang, S Chen, X Wu, X Li, X Yang, ... PloS one 10 (3), e0119093, 2015 | 21 | 2015 |
| Improvement in patient-reported hearing after treatment with bevacizumab in people with neurofibromatosis type 2 V Huang, AL Bergner, C Halpin, VL Merker, MR Sheridan, BC Widemann, ... Otology & Neurotology 39 (5), 632-638, 2018 | 20 | 2018 |
| Genetic counseling for neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis—practice resource of the National Society of Genetic Counselors HB Radtke, AL Bergner, AL Goetsch, C McGowan, K Panzer, A Cannon Journal of Genetic Counseling 29 (5), 692-714, 2020 | 19 | 2020 |
| Creation of an international registry to support discovery in schwannomatosis KL Ostrow, AL Bergner, J Blakeley, DG Evans, R Ferner, JM Friedman, ... American Journal of Medical Genetics Part A 173 (2), 407-413, 2017 | 17 | 2017 |
| The dynamics of a genetic counseling peer supervision group KL Lewis, LAH Erby, AL Bergner, EK Reed, MR Johnson, JY Adcock, ... Journal of genetic counseling 26, 532-540, 2017 | 16 | 2017 |
| Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation RD Cohn, E Eklund, AL Bergner, JF Casella, SL Woods, J Althaus, ... Pediatrics 118 (2), e514-e521, 2006 | 16 | 2006 |
