ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing RC Green, JS Berg, WW Grody, SS Kalia, BR Korf, CL Martin, AL McGuire, ... Genetics in medicine 15 (7), 565-574, 2013 | 2736 | 2013 |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2. 0): a policy statement of the American College of Medical … SS Kalia, K Adelman, SJ Bale, WK Chung, C Eng, JP Evans, GE Herman, ... Genetics in medicine 19 (2), 249-255, 2017 | 1723 | 2017 |
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2 DH Gutmann, A Aylsworth, JC Carey, B Korf, J Marks, RE Pyeritz, ... Jama 278 (1), 51-57, 1997 | 1654 | 1997 |
Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference H Northrup, DA Krueger, S Roberds, K Smith, J Sampson, B Korf, ... Pediatric neurology 49 (4), 243-254, 2013 | 1603 | 2013 |
Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference DA Krueger, H Northrup, S Roberds, K Smith, J Sampson, B Korf, ... Pediatric neurology 49 (4), 255-265, 2013 | 904 | 2013 |
Neurofibromatosis type 1 revisited VC Williams, J Lucas, MA Babcock, DH Gutmann, B Korf, BL Maria Pediatrics 123 (1), 124-133, 2009 | 798 | 2009 |
Neurofibromatosis type 1 DH Gutmann, RE Ferner, RH Listernick, BR Korf, PL Wolters, KJ Johnson Nature Reviews Disease Primers 3 (1), 1-17, 2017 | 778 | 2017 |
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome DJ Marsh, JB Kum, KL Lunetta, MJ Bennett, RJ Gorlin, SF Ahmed, ... Human molecular genetics 8 (8), 1461-1472, 1999 | 673 | 1999 |
Neurofibromatosis type 1 KP Boyd, BR Korf, A Theos Journal of the American Academy of Dermatology 61 (1), 1-14, 2009 | 644 | 2009 |
Implementing genomic medicine in the clinic: the future is here TA Manolio, RL Chisholm, B Ozenberger, DM Roden, MS Williams, ... Genetics in Medicine 15 (4), 258-267, 2013 | 607 | 2013 |
Emery and Rimoin's principles and practice of medical genetics DL Rimoin, JM Connor, RE Pyeritz, BR Korf Churchill Livingstone Elsevier, 2007 | 557 | 2007 |
Plexiform neurofibromas BR Korf American journal of medical genetics 89 (1), 31-37, 1999 | 508 | 1999 |
Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene BR Seizinger, GA Rouleau, LJ Ozelius, AH Lane, AG Faryniarz, MV Chao, ... Cell 49 (5), 589-594, 1987 | 491 | 1987 |
Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force JM Friedman, J Arbiser, JA Epstein, DH Gutmann, SJ Huot, AE Lin, ... Genetics in Medicine 4 (3), 105-111, 2002 | 479 | 2002 |
Malignancy in neurofibromatosis type 1 BR Korf The oncologist 5 (6), 477-485, 2000 | 428 | 2000 |
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation E Legius, L Messiaen, P Wolkenstein, P Pancza, RA Avery, Y Berman, ... Genetics in Medicine 23 (8), 1506-1513, 2021 | 414 | 2021 |
Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations H Northrup, ME Aronow, EM Bebin, J Bissler, TN Darling, PJ de Vries, ... Pediatric Neurology 123, 50-66, 2021 | 346 | 2021 |
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1 AE Lin, PH Birch, BR Korf, R Tenconi, M Niimura, M Poyhonen, ... American journal of medical genetics 95 (2), 108-117, 2000 | 282 | 2000 |
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas A Piotrowski, J Xie, YF Liu, AB Poplawski, AR Gomes, P Madanecki, C Fu, ... Nature genetics 46 (2), 182-187, 2014 | 272 | 2014 |
Human chromosome 7: DNA sequence and biology SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ... Science 300 (5620), 767-772, 2003 | 269 | 2003 |