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Bruce Korf
Bruce Korf
在 uabmc.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
27362013
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
17232017
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
16541997
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
16032013
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
9042013
Neurofibromatosis type 1 revisited
VC Williams, J Lucas, MA Babcock, DH Gutmann, B Korf, BL Maria
Pediatrics 123 (1), 124-133, 2009
7982009
Neurofibromatosis type 1
DH Gutmann, RE Ferner, RH Listernick, BR Korf, PL Wolters, KJ Johnson
Nature Reviews Disease Primers 3 (1), 1-17, 2017
7782017
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
6731999
Neurofibromatosis type 1
KP Boyd, BR Korf, A Theos
Journal of the American Academy of Dermatology 61 (1), 1-14, 2009
6442009
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
6072013
Emery and Rimoin's principles and practice of medical genetics
DL Rimoin, JM Connor, RE Pyeritz, BR Korf
Churchill Livingstone Elsevier, 2007
5572007
Plexiform neurofibromas
BR Korf
American journal of medical genetics 89 (1), 31-37, 1999
5081999
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
4911987
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
4792002
Malignancy in neurofibromatosis type 1
BR Korf
The oncologist 5 (6), 477-485, 2000
4282000
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
4142021
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
3462021
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
2822000
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
2722014
Human chromosome 7: DNA sequence and biology
SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ...
Science 300 (5620), 767-772, 2003
2692003
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