Bruce R Korf MD

PubMed

• Genotype-First Assessment of Presentation and Penetrance of Neurofibromatosis Type 1, Autosomal Dominant Polycystic Kidney Disease, and Marfan Syndrome Within theResea...
  Stephanie A Felker, Bruce R Korf, Gregory S Barsh
  Medrxiv. 2025-02-27
• Treatment of Cutaneous Neurofibromas in Neurofibromatosis Type 1 With MEK Inhibitor Selumetinib: A Nonrandomized Clinical Trial.
  Andrea M Gross, Olivia H Reid, Lauren A Baldwin, Ashley Cannon, Hyoyoung Choo-Wosoba
  JAMA Dermatology. 2025-02-26
• 2 citations
  Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
  Susan M Hiatt, James M J Lawlor, Lori H Handley, Donald R Latner, Zachary T Bonnstetter
  Genome Research. 2024-11-20

Journal Articles

• Expanding the Clinical Phenotype of Individuals with a 3-Bp in-Frame Deletion of the NF1 Gene (c.2970_2972del): An Update of Genotype–Phenotype Correlation  
  Rachel K Hachen, Elizabeth K Schorry, Arthur S Aylsworth, Katherine A Rauen, Ashraf Syed, Daryl A Scott, Lois J Starr, Donald G Basel, Lynne M Bird, Leah W Burke, Mari..., Nature
• Germline and Somatic NF1 Alterations Are Linked to Increased HER2 Expression in Breast Cancer  
  Maria T Acosta, Bruce R Korf, Clinical Cancer Research
• Phase I trial and pharmacokinetic study of sorafenib in children with neurofibromatosis type I and plexiform neurofibromas.  
  Kim A, Dombi E, Tepas K, Fox E, Martin S, Wolters P, Balis FM, Jayaprakash N, Turkbey B, Muradyan N, Choyke PL, Reddy A, Korf B, Widemann BC, Pediatr Blood Cancer, 1/1/2013
• Overview of molecular genetic diagnosis.  
  Harada S, Korf BR, Curr Protoc Hum Genet, 1/1/2013
• Exploring concordance and discordance for return of incidental findings from clinical sequencing.  
  Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Mur..., Genet Med, 1/1/2012
• Biochemical genetics Introduction.  
  Sharer JD, Curr Protoc Hum Genet., 1/1/2012
• Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental re...  
  Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ, Am J Med Genet A, 1/1/2011
• Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2.  
  Blakeley JO, Evans DG, Adler J, Brackmann D, Chen R, Ferner RE, Hanemann CO, Harris G, Huson SM, Jacob A, Kalamarides M, Karajannis MA, Korf ..., Am J Med Genet A, 1/1/2011
• Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.  
  Boyd KP, Gao L, Feng R, Beasley M, Messiaen L, Korf BR, Theos A, J Am Acad Dermatol, 1/1/2010
• Back to the future: Proceedings from the 2010 NF Conference.  
  Huson SM, Acosta MT, Belzberg AJ, Bernards A, Chernoff J, Cichowski K, Gareth Evans D, Ferner RE, Giovannini M, Korf BR, Listernick R, North ..., Am J Med Genet A, 1/1/2010
• XIII PRACTICE OF GENETICS IN CLINICAL MEDICINE.  
  Korf BR, Gallego C, ACP Medicine, 1/1/2010
• Future health applications of genomics: priorities for communication, behavioral, and social sciences research.  
  McBride CM, Bowen D, Brody LC, Condit CM, Croyle RT, Gwinn M, Khoury MJ, Koehly LM, Korf BR, Marteau TM, McLeroy K, Patrick K, Valente TW, Am J Prev Med, 1/1/2010
• Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.  
  Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts ..., Am J Med Genet A, 1/1/2010
• Clinical and Mutational Spectrum of Neurofibromatosis Type 1-like Syndrome.  
  Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen B, Esco..., JAMA, 1/1/2009
• AsktheGeneticist: five years of online experience.  
  Tesla C, Korf BR, Holt L, Prucka S, Robin NH, Descartes M, Lose E, Stembridge A, Epstein M, Warren S, Genet Med, 1/1/2009
• Neurofibromatosis type 1.  
  Boyd K, Korf B, Theos A, J Am Acad Dermatol, 1/1/2009
• Consensus recommendations to accelerate clinical trials for neurofibromatosis type 2.  
  Evans D, Kalamarides M, Hunter-Schaedle K, Blakeley J, Allen J, Babovic-Vuskanovic D, Belzberg A, Bollag G, Chen R, DiTomaso E, Golfinos J, Har..., Clin Cancer Res, 1/1/2009
• Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.  
  Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts ..., Am J Med Genet, 1/1/2009
• Neurofibromatosis type 1 revisited.  
  Williams V, Lucas J, Babcock M, Gutmann D, Korf B, Maria B, Pediatrics, 1/1/2009
• Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.  
  Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR..., Am J Hum Genet, 1/1/2008
• Advances in Genetic Testing and Applications in Newborn Medicine.  
  Goodin K, Chen M, Lose E, Mikhail FM, Korf BR, Neoreviews, 1/1/2008
• Statins, bone, and neurofibromatosis type 1.  
  Korf B, BMC Medicine, 1/1/2008
• Hutchinson-Gilford progeria syndrome, aging, and the nuclear lamina.  
  Korf B, N Engl J Med, 1/1/2008
• Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12-14, 2006.  
  Korf BR, Ledbetter D, Murray MF, Genet Med, 1/1/2008
• Cancer risk assessment and the genetic counseling process: using hereditary breast and ovarian cancer as an example.  
  Prucka SK, McIlvried DE, Korf BR, Med Princ Pract, 1/1/2008
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Books/Book Chapters

• Emery and Rimoin's Essential Medical Genetics. 
  Rimoin DL, Pyeritz, RE, Korf BRElsevier, Oxford2013
• Human Genetics and Genomics 
  Korf BR, Irons, MBWiley-Blackwell, SussexEdition 4th ,2013
• Textbook of Clinical Pediatrics. 
  Chapter: Genetics in pediatric medicine. 
  Page 3 - 12Korf BEditors: Elzouki A, Harfi H, Stapleton F, Oh W, Whitley R.Springer, BerlinEdition 2nd ,2012
• Advances in Neurofibromatosis Research 
  Chapter: Natural history of plexiform neurofibromas. 
  Page 59 - 70Korf BEditors: Geller M, Cunha K.Nova Science Publishers, New York2012
• Swaiman's Pediatric Neurology: Principles and Practice. 
  Chapter: Chromosomes and Chromosomal Abnormalities. 
  Page 307 - 327Descartes M, Korf B, Mikhail FEditors: Swaiman KF, Ashwal S, Ferriero DM, Schor N.SaundersEdition 5th ,2011
• Cecil Textbook of Internal Medicine 
  Chapter: Principles of Genetics. 
  Page 184 - 187Korf BEditors: Goldman L, Schaefer A.Saunders, Philadelphia2011
• Pediatric Dermatology 
  Chapter: Tuberous sclerosis complex and neurofibromatosis. 
  Page 481 - 489Korf BEditors: Schachner LA, Hansen RC.A Mosby TitleEdition 4th ,2011
• Harper's Textbook of Pediatric Dermatology 
  Chapter: The neurofibromatoses. 
  Theos A, Boyd K, Korf BEditors: Irvine A, Hoeger PH, Yan AC.Wiley-Blackwell, Oxford2011
• Swaiman's Pediatric Neurology: Principles and Practice 
  Chapter: Phakomatoses and allied conditions. 
  Page 497 - 517Thiele E, Korf BEditors: Swaiman KF, Ashwal S, Ferriero DM, Schor N.SaundersEdition 5th ,2011
• Clinical and Translational Science: Principles of Human Research. 
  Chapter: Introduction to human genetics. 
  Page 265 - 288Korf BR, Sathienkijkanchai AEditors: Robertson D, Williiams GH.Elsevier, Amsterdam2009
• Current Management in Child Neurology. 
  Chapter: Neurofibromatosis. 
  Page 551 - 555Korf BREditors: Maria BL.BC Decker, Shelton, CT2009
• Medical Genetics at a Glance. 
  Pritchard D, Korf, B.RBlackwell, OxfordEdition 2nd ,2008
• Encyclopedia of Neuroscience. 
  Chapter: Neurofibromatosis Type 1. 
  Page 401 - 407Theos A, Korf BEditors: Squire LR.Academic Press, Oxford2008
• Psychiatric genetics: Applications in clinical practice 
  Chapter: The road ahead. 
  Page 277 - 304Korf B, Smoller JEditors: Smoller JW, Sheidley BR, Tsuang MT.American Psychiatric Pub2008
• Cecil Textbook of Internal Medicine 
  Chapter: Principles of Genetics: Overview of the paradigm of genetic contribution to health and disease. 
  Page 213 - 216Korf BEditors: Goldman L, Ausiello D.Saunders, PhiladelphiaEdition 23rd,2008
• Emery and Rimoin's Principles and Practice of Medical Genetics. 
  Rimoin DL, Connor, JM, Pyeritz, RE, Korf, BRChurchill Livingstone, PhiladelphiaEdition 5th ,2007
• Pediatric Neurology: Principles and Practice. 
  Chapter: Phakomatoses and related disorders. 
  Page 771 - 796Thiele E, Korf BREditors: Swaiman KF, Ashwal S, Ferriero S.Mosby, St. LouisEdition 4th ,2007
• Principles and Practice of Clinical Research. 
  Chapter: Human Genome Project, Genomics, and Clinical Research. 
  Page 405 - 420Lyon HN, Korf BREditors: Gallin JIO, F.P.Academic Press, Burlington2007
• Nelson Textbook of Pediatrics. 
  Chapter: Human Genetics. 
  Page 485 - 526Korf BEditors: Kleigman R, Jenson H, Stanton B.Saunders, PhiladelphiaEdition 18th,2007
• Human Genetics and Genomics: A Problem-Based Approach. 
  Korf BRBlackwell Science, Oxford2006
• Genetic Testing: Care, Consent, and Liability. 
  Chapter: Carrier Screening. 
  Page 254 - 267Holt LK, B.REditors: Carter, RF.Wiley-Liss, Hoboken2006
• Medical Care for Children and Adults with Developmental Disabilities. 
  Chapter: Phakomatoses. 
  Page 207 - 216Thiele E, Korf BEditors: Rubin I, Crocker A.Paul H. Brooks, BaltimoreEdition 2nd ,2006
• Prenatal Diagnosis. 
  Chapter: Mendelian genetics in prenatal diagnosis. 
  Page 51 - 56Korf BREditors: Evans MIJ, M.P.;Yaron, Y.McGraw-Hill, New York2006
• Principles of Molecular Medicine. 
  Chapter: Mendelian inheritance. 
  Page 3 - 8Korf BREditors: Runge MSP, C.Human Press, Totowa2006
• Short Protocols in Human Genetics. 
  Dracopoli DC, Haines JL, Korf BR, Morton CC, Rosenzweig A, Seidman CE, Seidman JG, Smith DRJohn Wiley and Sons, Hoboken2005
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Lectures

• Integration of Genomics into Medical Practice: When and How? 
  San Francisco, CA - 6/1/2013
• Genomic Testing in the Clinic: Next Steps 
  San Francisco, CA - 2/1/2013
• Treatment of Pediatric Genetic Disease 
  Columbus, GA - 2/1/2013
• Education in Genomic Medicine 
  Dallas, TX - 1/1/2013
• Genetic Testing Through the Lifespan 
  Marshfield, WI - 11/1/2012
• Molecularly Guided Therapy of Genetic Disorders 
  New Orleans, LA - 10/1/2012
• Genome Sequencing in Pediatric Genetics 
  Daejon, Korea - 10/1/2012
• New Approaches to Treatment of Neurofibromatosis 
  Istanbul, Turkey - 9/1/2012
• Genetics Education and Newborn Screening 
  9/1/2012
• Genetics Through the Lifespan 
  4/1/2012
• Epigenetics 
  4/1/2012
• Research Opportunities in Epigenetics 
  4/1/2012
• Neurofibromatosis Clinical Trials 
  Cleveland, OH - 4/1/2012
• The Emerging Sea Change in the Genetics Training Landscape 
  2/1/2012
• Review of Molecular Genetics 
  San Francisco, CA - 1/1/2012
• Advances in the Diagnosis and Treatment of Neurofibromatosis 
  New Orleans, LA - 10/1/2011
• Genomic Sequencing in Pediatrics 
  Boston, MA - 10/1/2011
• The NF Clinical Trials Consortium 
  Washington, DC - 7/1/2011
• The Genetics Workforce 
  Washington, DC - 7/1/2011
• Advances in Management of Neurofibromatosis 
  Seattle, WA - 6/1/2011
• Genomics in Clinical Research 
  Washington, DC - 4/1/2011
• Genome Sequencing, Use of Family History, Coordination of Care 
  3/1/2011
• State of ACMG 
  Vancouver, BC - 3/1/2011
• Legius syndrome 
  Vancouver, BC - 3/1/2011
• Genomics and Personalized Medicine 
  Birmingham, AL - 2/1/2011
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