Positions

Overview

  • Dr. Korf is Wayne H. and Sara Crews Finley Chair in Medical Genetics, Professor and Chair of the Department of Genetics, Director of the Heflin Center for Genomic Sciences at UAB, and Co-Director of the UAB-HudsonAlpha Center for Genomic Medicine. He is a medical geneticist, pediatrician, and child neurologist, certified by the American Board of Medical Genetics (clinical genetics, clinical cytogenetics, clinical molecular genetics), American Board of Pediatrics, and American Board of Psychiatry and Neurology (child neurology). Dr. Korf is past president of the Association of Professors of Human and Medical Genetics, past president of the American College of Medical Genetics and Genomics, and current president of the ACMG Foundation for Genetic and Genomic Medicine. He has served on the Board of Scientific Counselors of the National Cancer Institute and the National Human Genome Research Institute at the NIH. He chairs the Medical Advisory Committee of the Children's Tumor Foundation and serves on the CTF Board of Directors. His major research interests are the natural history, genetics, and treatment of neurofibromatosis and the integration of genomics into medical practice. He serves as principal investigator of the Department of Defense funded Neurofibromatosis Clinical Trials Consortium. He is co-author of Human Genetics and Genomics (medical student textbook, now in fourth edition), Medical Genetics at a Glance (medical student textbook, now in third edition), Emery and Rimoin's Principles and Practice of Medical Genetics (now in 6th edition), and Current Protocols in Human Genetics.
  • Selected Publications

    Academic Article

    Year Title Altmetric
    2018 Response to Hannah-Shmouni and Stratakis.Genetics in Medicine2018
    2018 Correction: 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.Genetics in Medicine2018
    2018 Germline and Somatic NF1 Alterations Are Linked to Increased HER2 Expression in Breast Cancer.Cancer Prevention Research.  11:655-664. 2018
    2018 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.Genetics in Medicine2018
    2018 Epilepsy treatment patterns among patients with tuberous sclerosis complexJournal of the Neurological Sciences.  391:104-108. 2018
    2018 Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in Medicine.  20:671-682. 2018
    2018 Neurofibromin (NF1) genetic variant structure-function analyses using a full-length mouse cDNA.Human Mutation.  39:816-821. 2018
    2018 Unusual presentation of hereditary leiomyomatosis mimicking neurofibromatosis.JAAD Case Reports.  4:440-441. 2018
    2018 Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study.Orphanet Journal of Rare Diseases.  13:31. 2018
    2018 Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.American Journal of Human Genetics.  102:69-87. 2018
    2018 Neurofibromatosis Clinical Trial Consortium.Journal of Child Neurology.  33:82-91. 2018
    2017 Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.Genes, Chromosomes and Cancer.  57:19-27. 2017
    2017 Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23-26 February 2014.Genetics in Medicine.  19. 2017
    2017 Patterns of Disease Monitoring and Treatment Among Patients With Tuberous Sclerosis Complex-related Angiomyolipomas.Urology.  104:110-114. 2017
    2017 CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.Genetics in Medicine.  19:606. 2017
    2017 Neurocutaneous Disorders in Children.Pediatrics in Review.  38:119-128. 2017
    2017 Neurofibromatosis type 1.Nature Reviews Disease Primers.  3:17004. 2017
    2017 Creation of an international registry to support discovery in schwannomatosis.American Journal of Medical Genetics.  173:407-413. 2017
    2017 Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study.PLoS ONE.  12:e0178639. 2017
    2017 Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1: Multidisciplinary Recommendations for Care.Ophthalmology: Journal of The American Academy of Ophthalmology.  124:123-132. 2017
    2016 Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1.Neurology.  87:2575-2584. 2016
    2016 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 Genetics and Genomics.Genetics in Medicine.  19:249-255. 2016
    2016 Recommendations for the integration of genomics into clinical practice.Genetics in Medicine.  18:1075-1084. 2016
    2016 Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.Genetics in Medicine.  19:377-385. 2016
    2016 Current status and recommendations for biomarkers and biobanking in neurofibromatosis.Neurology.  87:S40-S48. 2016
    2016 The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.American Journal of Medical Genetics.  170:1959-1966. 2016
    2016 Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.Disease Models & Mechanisms.  9:759-767. 2016
    2016 Overview of Clinical Cytogenetics.Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].  89:8.1.1-8.1.13. 2016
    2015 High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.Human Mutation.  36:1052-1063. 2015
    2015 Hypomagnesemia due to two novel TRPM6 mutations.Journal of Pediatric Endocrinology and Metabolism.  28:1373-1378. 2015
    2015 Pushing the envelope in genomics education.Genetics in Medicine.  17:857-858. 2015
    2015 The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach.American Journal of Medical Genetics.  167A:1741-1746. 2015
    2015 Partial trisomy 21: a fifty-year follow-up visit.American Journal of Medical Genetics.  167:1610-1613. 2015
    2015 Global implementation of genomic medicine: We are not alone.Science Translational Medicine.  7:290ps13. 2015
    2015 How to know when physicians are ready for genomic medicine.Science Translational Medicine.  7:287fs19. 2015
    2015 Spinal neurofibromatosis and phenotypic heterogeneity in NF1.Clinical Genetics.  87:399-400. 2015
    2015 Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a neurofibromatosis Clinical Trials Consortium phase II study.Neuro-Oncology.  17:596-603. 2015
    2014 Validity and interexaminer reliability of a new method to quantify skin neurofibromas of neurofibromatosis 1 using paper frames.Orphanet Journal of Rare Diseases.  9:202. 2014
    2014 Clinical response to bevacizumab in schwannomatosis.Neurology.  83:1986-1987. 2014
    2014 Framework for development of physician competencies in genomic medicine: report of the Competencies Working Group of the Inter-Society Coordinating Committee for Physician Education in Genomics.Genetics in Medicine.  16:804-809. 2014
    2014 Sirolimus for non-progressive NF1-associated plexiform neurofibromas: an NF clinical trials consortium phase II study.Medical and Pediatric Oncology.  61:982-986. 2014
    2014 The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1.Nephrology Dialysis Transplantation.  29:1203-1210. 2014
    2014 Phase 2 randomized, flexible crossover, double-blinded, placebo-controlled trial of the farnesyltransferase inhibitor tipifarnib in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas.Neuro-Oncology.  16:707-718. 2014
    2014 CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.American Journal of Medical Genetics.  164A:563-578. 2014
    2014 The medical genetics residency milestones.Journal of graduate medical education.  6:87-90. 2014
    2014 Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.Nature Genetics.  46:182-187. 2014
    2014 Prenatal whole-genome sequencing--is the quest to know a fetus's future ethical?New England Journal of Medicine.  370:195-197. 2014
    2014 Challenges in global genomics educationApplied and Translational Genomics.  3:128-129. 2014
    2014 Prenatal whole-genome sequencing: Is the quest to know a fetus's future ethical?Obstetrical and Gynecological Survey.  69:197-199. 2014
    2013 Recommendations for imaging tumor response in neurofibromatosis clinical trials.Neurology.  81:S33-S40. 2013
    2013 Integration of genomics into medical practice.Discovery medicine.  16:241-248. 2013
    2013 Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.Pediatric Neurology.  49:243-254. 2013
    2013 Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.Pediatric Neurology.  49:255-265. 2013
    2013 Genomic medicine: educational challenges.Molecular Genetics and Genomic Medicine.  1:119-122. 2013
    2013 Implementing genomic medicine in the clinic: The future is hereObstetrical and Gynecological Survey.  68:621-623. 2013
    2013 Response to Townsend et al.Genetics in Medicine.  15:752-753. 2013
    2013 Genomic privacy in the information age.Clinical Chemistry.  59:1148-1150. 2013
    2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.Genetics in Medicine.  15:565-574. 2013
    2013 New approaches to molecular diagnosis.Journal of the American Medical Association.  309:1511-1521. 2013
    2013 Implementing genomic medicine in the clinic: the future is here.Genetics in Medicine.  15:258-267. 2013
    2013 Optimizing biologically targeted clinical trials for neurofibromatosis.Expert Opinion on Investigational Drugs.  22:443-462. 2013
    2013 Phase I trial and pharmacokinetic study of sorafenib in children with neurofibromatosis type I and plexiform neurofibromas.Medical and Pediatric Oncology.  60:396-401. 2013
    2013 Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.American Journal of Medical Genetics.  161A:405-416. 2013
    2013 Genetic literacy and competencyPediatrics.  132. 2013
    2013 Neurofibromatosis.Handbook of Clinical Neurology.  111:333-340. 2013
    2013 Overview of molecular genetic diagnosis.Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].  Chapter 9:Unit9.1. 2013
    2012 Genetic and genomic competency in medical practice.The virtual mentor : VM.  14:622-626. 2012
    2012 Biochemical genetics. Introduction.Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].  Chapter 17:Unit-17.0.1. 2012
    2012 Exploring concordance and discordance for return of incidental findings from clinical sequencing.Genetics in Medicine.  14:405-410. 2012
    2012 Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2.American Journal of Medical Genetics.  158A:24-41. 2012
    2011 Competencies for the physician medical geneticist in the 21st century.Genetics in Medicine.  13:911-912. 2011
    2011 Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.American Journal of Medical Genetics.  155A:2386-2396. 2011
    2011 Genetics and genomics education: the next generation.Genetics in Medicine.  13:201-202. 2011
    2011 Back to the future: proceedings from the 2010 NF Conference.American Journal of Medical Genetics.  155A:307-321. 2011
    2010 Introduction: Clinical molecular geneticsCurrent protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]2010
    2010 Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.Journal of The American Academy of Dermatology.  63:440-447. 2010
    2010 Future health applications of genomics: priorities for communication, behavioral, and social sciences research.American Journal of Preventive Medicine.  38:556-565. 2010
    2010 Cancer genetics: IntroductionCurrent protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]2010
    2010 Biochemical geneticsCurrent protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]2010
    2010 Cancer geneticsCurrent protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]2010
    2010 Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.American Journal of Medical Genetics.  152A:4-24. 2010
    2009 Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.Journal of the American Medical Association.  302:2111-2118. 2009
    2009 Consensus recommendations to accelerate clinical trials for neurofibromatosis type 2.Clinical Cancer Research.  15:5032-5039. 2009
    2009 Neurofibromatosis type 1.Journal of The American Academy of Dermatology.  61:1-14. 2009
    2009 Cancer geneticsCurrent protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]2009
    2009 AsktheGeneticist: five years of online experience.Genetics in Medicine.  11:294-304. 2009
    2009 Clinical molecular geneticsCurrent protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]2009
    2008 Biochemical geneticsCurrent protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]2008
    2008 Clinical cytogeneticsCurrent protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]2008
    2008 Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project (DOI:10.1016/j.ajhg.2008.01.011)American Journal of Human Genetics.  83:425-427. 2008
    2008 Statins, bone, and neurofibromatosis type 1.BMC Medicine.  6:22. 2008
    2008 Advances in genetic testing and applications in newborn medicineNeoReviews.  9. 2008
    2008 Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12-14, 2006.Genetics in Medicine.  10:502-507. 2008
    2008 Developing a national collaborative study system for rare genetic diseases.Genetics in Medicine.  10:325-329. 2008
    2008 Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.American Journal of Human Genetics.  82:712-722. 2008
    2008 Hutchinson-Gilford progeria syndrome, aging, and the nuclear lamina.New England Journal of Medicine.  358:552-555. 2008
    2008 Cancer risk assessment and the genetic counseling process: using hereditary breast and ovarian cancer as an example.Medical Principles and Practice.  17:173-189. 2008
    2007 Overview of genetic diagnosis in cancer.Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].  Chapter 10:Unit-10.1. 2007
    2007 Genetic testing in cardiovascular disease.Journal of the American College of Cardiology.  50:727-737. 2007
    2007 Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.American Journal of Human Genetics.  80:792-799. 2007
    2007 NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight.Neurology.  68:643-647. 2007
    2006 Impact of neurofibromatosis 1 on Quality of Life: a cross-sectional study of 176 American cases.American Journal of Medical Genetics.  140:1893-1898. 2006
    2006 Pathophysiology of neurofibromatosis type 1.Annals of Internal Medicine.  144:842-849. 2006
    2006 Overview of molecular genetic diagnosis.Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].  Chapter 9:Unit-9.1. 2006
    2005 Genetics training in the genomic era.Current Opinion in Pediatrics.  17:747-750. 2005
    2005 The case for strategic international alliances to harness nutritional genomics for public and personal health.British Journal of Nutrition.  94:623-632. 2005
    2005 Psychiatric genetics: a survey of psychiatrists' knowledge, opinions, and practice patterns.Journal of Clinical Psychiatry.  66:821-830. 2005
    2005 Report of Banbury Summit meeting on training of physicians in medical genetics, October 20-22, 2004.Genetics in Medicine.  7:433-438. 2005
    2005 Genetics in medical practice: the need for ultimate makeover.Genetics in Medicine.  7:293-294. 2005
    2005 Case records of the Massachusetts General Hospital. Case 13-2005. A 48-year-old man with weakness of the limbs and multiple tumors of spinal nerves.New England Journal of Medicine.  352:1800-1808. 2005
    2005 MR imaging of abdominopelvic involvement in neurofibromatosis type 1: a review of 43 patients.Pediatric Radiology.  35:317-322. 2005
    2005 Superficial neurofibroma: a lesion with unique MRI characteristics in patients with neurofibromatosis type 1.American Journal of Roentgenology.  184:962-968. 2005
    2005 The phakomatoses.Clinics in Dermatology.  23:78-84. 2005
    2004 Outline of a medical genetics curriculum for internal medicine residency training programs.Genetics in Medicine.  6:543-547. 2004
    2004 Basic genetics.Primary Care: Clinics in Office Practice.  31:461-vii. 2004
    2004 Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases.American Journal of Medical Genetics.  128A:120-126. 2004
    2004 Integration of genetics into medical practice.Growth Hormone and IGF Research.  14 Suppl A:S146-S149. 2004
    2004 The phakomatoses.Neuroimaging Clinics of North America.  14:139-vii. 2004
    2003 Deletion of the SLUG (SNAI2) gene results in human piebaldismAmerican Journal of Medical Genetics.  122 A:125-132. 2003
    2003 Deletion of the SLUG (SNAI2) gene results in human piebaldism.American Journal of Medical Genetics.  122A:125-132. 2003
    2003 Rib defects in patterns of multiple malformations: A retrospective review and phenotypic analysis of 47 casesAmerican Journal of Medical Genetics.  122 A:63-69. 2003
    2003 Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases.American Journal of Medical Genetics.  122A:63-69. 2003
    2003 Malignant peripheral nerve sheath tumours in neurofibromatosis type 1: MRI supports the diagnosis of malignant plexiform neurofibroma.Neuroradiology.  45:618-625. 2003
    2003 Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics.Genetics in Medicine.  5:338-341. 2003
    2003 Human chromosome 7: DNA sequence and biology.Science.  300:767-772. 2003
    2003 Interobserver reproducibility of volumetric MR imaging measurements of plexiform neurofibromas.American Journal of Roentgenology.  180:419-423. 2003
    2003 What's new in neurogenetics? Amish microcephaly.European Journal of Paediatric Neurology.  7:393-394. 2003
    2002 Genetics and medical practice: new approaches to "old" disorders.Current Opinion in Pediatrics.  14:688-690. 2002
    2002 Genetics in medical practice.Genetics in Medicine.  4:10S-14S. 2002
    2002 Integration of genetics into clinical teaching in medical school education.Genetics in Medicine.  4:33S-38S. 2002
    2002 Anaesthetic management of children with tuberous sclerosis.Pediatric Anesthesia.  12:700-704. 2002
    2002 Clinical features and pathobiology of neurofibromatosis 1.Journal of Child Neurology.  17:573-577. 2002
    2002 Determination of end points for treatment of neurofibromatosis 1.Journal of Child Neurology.  17:642-645. 2002
    2002 Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.Genetics in Medicine.  4:279-288. 2002
    2002 Plexiform neurofibromas in NF1: toward biologic-based therapy.Neurology.  58:1461-1470. 2002
    2002 Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force.Genetics in Medicine.  4:105-111. 2002
    2002 NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.Human Mutation.  19:309. 2002
    2001 Genetic testing and medical practice.Current Opinion in Pediatrics.  13:547-549. 2001
    2001 Connexin 26 studies in patients with sensorineural hearing loss.Archives of Otolaryngology Head and Neck Surgery.  127:1037-1042. 2001
    2001 Diagnosis of FS should not be made until PKS is ruled out.American Journal of Medical Genetics.  102:306-307. 2001
    2001 Abdominal migraine in children with neurofibromatosis type 1: a case series and review of gastrointestinal involvement in NF1.Journal of Pediatric Gastroenterology and Nutrition.  33:149-154. 2001
    2001 Overview of clinical cytogenetics.Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].  Chapter 8:Unit-8.1. 2001
    2001 Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene.Genetics in Medicine.  3:310-313. 2001
    2001 American College of Medical Genetics consensus statement on factor V Leiden mutation testing.Genetics in Medicine.  3:139-148. 2001
    2001 Diagnosis and management of neurofibromatosis type 1.Current Neurology and Neuroscience Reports.  1:162-167. 2001
    2000 Integration of genetics into medical practice: ethical, legal, and social perspective.Current Opinion in Pediatrics.  12:585-588. 2000
    2000 Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1.American Journal of Medical Genetics.  95:108-117. 2000
    2000 Discordant phenotype in monozygotic twins with Fryns syndrome.American Journal of Medical Genetics.  94:42-45. 2000
    2000 Medical education in the 'postgenomic era'.Postgraduate Medicine.  108:15-18. 2000
    2000 Medical education in the 'postgenomic era': How will genetics information be disseminated and integrated?Postgraduate Medicine.  108:15-18. 2000
    2000 Advances in neurofibromatosis 2 (NF2): a workshop report.Journal of Neurogenetics.  14:63-106. 2000
    2000 New genetics of hearing lossTeratology -Philadelphia-.  61:163-164. 2000
    2000 New genetics of hearing loss.Teratology -Philadelphia-.  61:163-164. 2000
    2000 Summary of the Association of Professors of Human and Medical Genetics Fourth Annual Workshop.American Journal of Medical Genetics.  90:169-172. 2000
    2000 Growth in North American white children with neurofibromatosis 1 (NF1)Journal of Medical Genetics.  37:933-938. 2000
    2000 Malignancy in neurofibromatosis type 1.Oncologist.  5:477-485. 2000
    2000 NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.American Journal of Human Genetics.  66:100-109. 2000
    1999 Pediatrics in the era of genetic medicine.Current Opinion in Pediatrics.  11:549-550. 1999
    1999 PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.Human Molecular Genetics.  8:1461-1472. 1999
    1999 Genetic testing for patients with renal disease: procedures, pitfalls, and ethical considerations.Seminars in Nephrology.  19:319-326. 1999
    1999 Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.American Journal of Medical Genetics.  84:413-419. 1999
    1999 Emerging approaches toward the treatment of neurofibromatoses.Genetics in Medicine.  1:158-164. 1999
    1999 Structural anomalies revealed by neuroimaging studies in the brains of patients with neurofibromatosis type 1 and large deletions.Genetics in Medicine.  1:136-140. 1999
    1999 Plexiform neurofibromas.American Journal of Medical Genetics.  89:31-37. 1999
    1999 Retrospecive analysis of patients with overlapping features of townes‐brocks syndrome and goldenhar syndromeGenetics in Medicine.  1:56. 1999
    1998 Identification of a novel genetic locus for familial cardiac myxomas and Carney complex.Circulation.  98:2560-2566. 1998
    1998 The hereditary dystonias: an emerging story with a twist.Annals of Neurology.  44:4-5. 1998
    1998 Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.American Journal of Human Genetics.  62:1370-1380. 1998
    1998 Complex familial rearrangement of chromosome 9p24.3 detected by FISH.American Journal of Medical Genetics.  76:306-309. 1998
    1998 Genetic variation in the 3' untranslated region of the neurofibromatosis 1 gene: application to unequal allelic expression.Somatic Cell and Molecular Genetics.  24:107-119. 1998
    1998 GeneticsCurrent Opinion in Pediatrics.  10:607-608. 1998
    1997 The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.Journal of the American Medical Association.  278:51-57. 1997
    1997 Genetic heterogeneity of familial atrial myxoma syndromes (Carney complex).American Journal of Cardiology.  79:994-995. 1997
    1997 Neurocutaneous syndromes: neurofibromatosis 1, neurofibromatosis 2, and tuberous sclerosis.Current Opinion in Neurology.  10:131-136. 1997
    1997 Deletion of the entire NF1 gene causing distinct manifestations in a family.American Journal of Medical Genetics.  69:98-101. 1997
    1997 Somatic mosaicism for deletion of the entire NF1 gene identified by FISH.Human Genetics.  99:209-213. 1997
    1997 Limb anomalies in DiGeorge and CHARGE syndromes.American Journal of Medical Genetics.  68:179-181. 1997
    1997 Genetics: Editorial overviewCurrent Opinion in Pediatrics.  9:597-599. 1997
    1996 ARMS test for diagnosis of factor V(Leiden) mutation, a common cause of inherited thrombotic tendencyJournal of Clinical Laboratory Analysis.  10:414-417. 1996
    1996 Pitfalls in the interpretation of molecular diagnostic testsJournal of Clinical Laboratory Analysis.  10:368-374. 1996
    1996 Genetics and the population.Current Opinion in Pediatrics.  8:615-617. 1996
    1996 Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy.American Journal of Human Genetics.  59:423-430. 1996
    1996 Ophthalmological issues in the neurofibromatoses.Journal of pediatric ophthalmology.  33:255-259. 1996
    1996 Neurobehavioral profiles of children with neurofibromatosis 1 referred for learning disabilities are sex-specific.American Journal of Medical Genetics.  67:127-132. 1996
    1996 Advances in molecular diagnosis.Current Opinion in Obstetrics and Gynecology.  8:130-134. 1996
    1996 Distal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardationAmerican Journal of Medical Genetics.  62:77-83. 1996
    1996 Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation.American Journal of Medical Genetics.  62:77-83. 1996
    1996 ARMS test for diagnosis of factor VLeiden mutation, a common cause of inherited thrombotic tendency.Journal of Clinical Laboratory Analysis.  10:414-417. 1996
    1996 Pitfalls in the interpretation of molecular diagnostic tests.Journal of Clinical Laboratory Analysis.  10:368-374. 1996
    1995 Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations.American Journal of Medical Genetics.  59:528-535. 1995
    1995 "New" mechanisms of genetic disease.Current Opinion in Pediatrics.  7:695-698. 1995
    1995 17q inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one.American Journal of Medical Genetics.  60:312-316. 1995
    1995 CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3).American Journal of Medical Genetics.  57:610-614. 1995
    1995 Preliminary phenotypic map of chromosome 4p16 based on 4p deletions.American Journal of Medical Genetics.  57:581-586. 1995
    1995 Molecular diagnosis (2)New England Journal of Medicine.  332:1499-1502. 1995
    1995 Molecular diagnosis (1).New England Journal of Medicine.  332:1218-1220. 1995
    1994 The evolving role of clinical genetics in medicine. Commentary.Current Opinion in Pediatrics.  6:687-689. 1994
    1993 Advances in genetic diagnosis.Current Opinion in Pediatrics.  5:720-727. 1993
    1993 Patterns of seizures observed in association with neurofibromatosis 1.Epilepsia.  34:616-620. 1993
    1993 Neuroimaging in children with neurofibromatosis type 1.Journal of Pediatrics.  122:834-835. 1993
    1993 The Human Genome Project: implications for the practicing obstetrician.Obstetrics and Gynecology.  81:458-462. 1993
    1993 Genetics: Editorial overviewCurrent Opinion in Pediatrics.  5:705-706. 1993
    1993 Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome.American Journal of Medical Genetics.  45:97-100. 1993
    1993 National Neurofibromatosis Foundation International Database.American Journal of Medical Genetics.  45:88-91. 1993
    1993 Neuroimaging in children with neurofibromatosis type 1Journal of Pediatrics.  122:834. 1993
    1993 Stage III neuroblastoma over 1 year of age at diagnosis: improved survival with intensive multimodality therapy including multiple alkylating agents.Journal of Clinical Oncology.  11:84-90. 1993
    1992 A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.Neurology.  42:2251-2257. 1992
    1992 Diagnostic outcome in children with multiple café au lait spots.Pediatrics.  90:924-927. 1992
    1992 Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy.Pediatric Neurology.  8:432-436. 1992
    1992 A Neurogeneticist's PerspectiveEthics and Behavior.  2:131-133. 1992
    1992 Case vignette: genetic secrets.Ethics and Behavior.  2:129-139. 1992
    1992 Characterization of N-myc amplification in a human neuroblastoma cell line by clones isolated following the phenol emulsion reassociation technique and by hexagonal field gel electrophoresis.Mammalian Genome.  2:11-20. 1992
    1991 Locomotor problems in infantile facioscapulohumeral muscular dystrophy. Retrospective study of 9 patients.Acta Orthopaedica.  62:367-371. 1991
    1991 Galactose metabolism and reproductive history in women with type 1 neurofibromatosis.American Journal of Medical Genetics.  39:502-508. 1991
    1991 Stage IV neuroblastoma in infants. Long-term survival.Cancer.  67:1493-1497. 1991
    1991 Characterization of N-myc amplification in a human neuroblastoma cell line by clones isolated following the phenol emulsion reassociation technique and by hexagonal field gel electrophoresisMammalian Genome.  2:11-20. 1991
    1991 Consistent cytogenetic aberrations in hepatoblastoma: a common pathway of genetic alterations in embryonal liver and skeletal muscle malignancies?Genes, Chromosomes and Cancer.  3:37-43. 1991
    1991 Genetics: Editorial overviewCurrent Opinion in Pediatrics.  3:1021-1023. 1991
    1990 Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2-13.3 (SMA 5q).Neurology.  40:1831-1836. 1990
    1990 Genetic linkage of the human apolipoprotein AI-CIII-AIV gene cluster and the neural cell adhesion molecule (NCAM) gene.Genomics.  7:633-637. 1990
    1990 myc gene amplification and expression in primary human neuroblastoma.Cancer Research.  50:1459-1463. 1990
    1989 Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1).American Journal of Human Genetics.  44:30-32. 1989
    1987 Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17.Genomics.  1:346-348. 1987
    1987 Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene.Cell.  49:589-594. 1987
    1987 Rapid cloning of multiple amplified nucleotide sequences from human neuroblastoma cell lines by phenol emulsion competitive DNA reassociation.Gene.  51:53-59. 1987
    1987 ReplyAnnals of Neurology.  22:96-97. 1987
    1986 Amplification and rearrangement of DNA sequences from the chromosomal region 2p24 in human neuroblastomas.Cancer Research.  46:5297-5301. 1986
    1986 Bilateral lucency of the globus pallidus complicating methylmalonic acidemia.Annals of Neurology.  20:364-366. 1986
    1986 Use of Y chromosome specific probes to detect low level sex chromosome mosaicism.Clinical Genetics.  29:445-448. 1986
    1986 DNA-based detection of chromosome deletion and amplification: diagnostic and mechanistic significance.Cold Spring Harbor Symposia on Quantitative Biology.  51 Pt 1:299-307. 1986
    1986 Novel DNA rearrangement phenomena associated with DNA amplification in human neuroblastomas and neuroblastoma cell lines.Progress in clinical and biological research.  209A:601-612. 1986
    1985 Familial aggregation of small congenital nevomelanocytic nevi.American Journal of Medical Genetics.  22:315-326. 1985
    1985 Differential amplification, assembly, and relocation of multiple DNA sequences in human neuroblastomas and neuroblastoma cell lines.Proceedings of the National Academy of Sciences.  82:3761-3765. 1985
    1985 Facioscapulohumeral dystrophy presenting in infancy with facial diplegia and sensorineural deafness.Annals of Neurology.  17:513-516. 1985
    1983 "Killian Syndrome", Pallister mosaic syndrome, or mosaic tetrasomy 12P? - an analysis.The Journal of clinical dysmorphology.  1:2-5. 1983
    1982 Centromeres are arranged in clusters throughout the muntjac cell cycle.Experimental Cell Research.  139:393-396. 1982
    1980 Absence of true interchromosomal connectives in microsurgically isolated chromosomes.Experimental Cell Research.  130:377-385. 1980
    1979 T antigen banding on chromosomes of simian virus 40 infected muntjac cells.Cytogenetics and Cell Genetics.  24:27-36. 1979
    1978 Microsurgically-extracted metaphase chromosomes of the Indian muntjac examined with phase contrast and scanning electron microscopy.Experimental Cell Research.  111:83-93. 1978
    1977 Random arrangement of mitotic chromosomes in radial metaphases of the Indian muntjac.Cytogenetics and Cell Genetics.  19:335-343. 1977
    1976 The role of trypsin in the pre-treatment of chromosomes for Giemsa banding.Human Genetics.  31:27-33. 1976
    1975 Optimum pH for nuclear sex identification using quinacrine.Clinical Genetics.  8:145-148. 1975
    1975 Dynamic aspects of trypsin-giemsa banding.Humangenetik.  28:233-237. 1975
    1975 SEX-CHROMOSOME ABNORMALITIES IN HUSBANDS AND WIVESLancet.  305:333-334. 1975
    1974 A 21-21 tandem translocation with satellites on both long and short arms.Journal of Medical Genetics.  11:297-299. 1974
    1974 Cytogenetic and immunologic studies in chickens with autoimmune thyroiditis.Journal of Heredity.  65:219-222. 1974

    Book

    Year Title Altmetric
    2016 Introduction to Human Genetics 2016
    2013 Preface 2013
    2013 Emery and Rimoin's principles and practice of medical genetics 2013
    2009 Introduction to Human Genetics 2009

    Chapter

    Year Title Altmetric
    2017 Genetic Testing Techniques.  47-64. 2017
    2017 Approaches to Personalized Medicine in Pediatric Neurology.  1244-1247. 2017
    2017 Chromosomes and Chromosomal Abnormalities.  268-276. 2017
    2017 Phakomatoses and allied conditions.  362-372. 2017
    2016 Teaching and Training Medicine in Genomic Era.  237-246. 2016
    2016 Phakomatoses.  833-845. 2016
    2014 Nature and Frequency of Genetic Disease 2014
    2014 The Phakomatoses 2014
    2013 Nature and Frequency of Genetic Disease.  1-4. 2013
    2013 The Phakomatoses.  1-45. 2013
    2012 Human Genome Project, Genomics, and Clinical Research.  707-725. 2012
    2012 Natural history of plexiform neurofibromas.  59-70. 2012
    2012 Translational/clinical studies in children and adults with neurofibromatosis type 1.  625-657. 2012
    2011 Principles of Genetics.  184-187. 2011
    2011 The Neurofibromatoses.  1-14. 2011
    2010 Neurofibromatosis type 1.  401-407. 2010
    2007 Human genome project, genomics, and clinical research.  405-420. 2007
    2006 Mendelian inheritance.  3-8. 2006
    2006 Carrier Screening.  238-267. 2006
    2003 Genetic Testing for Neurologic Disorders.  183-187. 2003
    2003 The Neurofibromatoses.  1076-1082. 2003
    Overview of Genetic Diagnosis in Cancer..  10.1.1-10.1.9.

    Research Overview

  • Genomic medicine; diagnosis and treatment of neurofibromatosis, tuberous sclerosis complex, von Hippel-Lindau disease; Neurogenetics; Undiagnosed Disease Program
  • Principal Investigator On

  • Summer Undergraduate Research Experiences in Genomic Medicine (SURE-GM)  awarded by National Human Genome Research Institute/NIH/DHHS 2018 - 2023
  • Southern All of Us Network  awarded by NIH - OFFICE OF THE DIRECTOR 2018 - 2023
  • Private Grant  awarded by ARRAY BIOPHARMA 2017 - 2021
  • The Neurofibromatosis Clinical Trials Consortium  awarded by DOD - Department of Defense 2017 - 2021
  • DNA Sequencing for Newborn Nurseries in the South  awarded by HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY 2017 - 2021
  • UAB-HudsonAlpha Genomic Medicine Training Program  awarded by National Human Genome Research Institute/NIH/DHHS 2016 - 2021
  • Private Grant  awarded by Genentech 2013 - 2019
  • Private Grant  awarded by EXELIXIS, INC. 2014 - 2019
  • Neurofibromatosis Clinical Consortium Award  awarded by DOD - ARMY MEDICAL RESEARCH ACQUISITION ACTIVITY 2012 - 2019
  • A Randomized Phase II Trial of Recombinant Human Bone Morphogenetic Protein-2 (rhBMP-2) in Surgical Treatment of Tibial Pseudarthrosis in Neurofibromatosis Type 1 (NF-1)  awarded by Children's Tumor Foundation 2015 - 2019
  • TSC Natural History Database  awarded by Tuberous Sclerosis Alliance 2014 - 2018
  • Southern All of Us Network  awarded by NIH - OFFICE OF THE DIRECTOR 2017 - 2018
  • Private Grant  awarded by Pfizer Inc., U.S. Pharmaceuticals Group 2013 - 2018
  • A Phase II Study of Everolimus (RAD001) for Children with Neurofibromatosis Type I and Chemotherapy-Refractory Radiographic Progressive Low-Grade  awarded by Children's Tumor Foundation 2013 - 2018
  • Private Grant  awarded by Medtronic Sofamor Danek 2015 - 2017
  • Characterizing Novel NF-1 Mouse Models and Developing New Therapeutic Interventions  awarded by Children's Tumor Foundation 2013 - 2015
  • Neurofibromatosis Consortium  awarded by DOD - ARMY MEDICAL RESEARCH ACQUISITION ACTIVITY 2007 - 2015
  • Dermal NF Biobank Award  awarded by Children's Tumor Foundation 2014
  • UAB Mental Retardation Research Center - Core D  awarded by National Institute of Child Health and Human Development/NIH/DHHS 2008 - 2014
  • The Risk and Clinical and Molecule Characteristics of Breast Cancer in Women with Neurofibromatosis Type 1  awarded by HENRY FORD HOSPITAL 2013 - 2014
  • Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway  awarded by National Cancer Institute/NIH/DHHS 2013 - 2014
  • Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway: Towards a Therapeutic Approach  awarded by March of Dimes 2013 - 2014
  • TSC Natural History Database Project  awarded by Tuberous Sclerosis Alliance 2011 - 2013
  • The Risk and Clinical And Molecular Characteristics of Breast Cancer in Women with Neurofibromatosis Type 1  awarded by HENRY FORD HOSPITAL 2011 - 2013
  • Early Biomarkers of Autism Spectrum Disorders in Infants with Tuberous Sclerosis  awarded by CHILDREN'S HOSPITAL (BOSTON) 2012 - 2013
  • Private Grant  awarded by NOVARTIS INSTITUTES FOR BIOMEDICAL RESEARCH, INC. 2013
  • Private Grant  awarded by NOVO NORDISK PHARMACEUTICALS, INC. 2013
  • Spatial Learning in Children with NF1 Assessed Using a Novel Computerized Task  awarded by CHILDREN'S HOSPITAL (BOSTON) 2011 - 2013
  • NF BioBank Pilot Award (Registry)  awarded by Children's Tumor Foundation 2011 - 2012
  • Private Grant  awarded by NOVARTIS PHARMACEUTICALS CORPORATION 2009 - 2011
  • Private Grant  awarded by NOVARTIS PHARMACEUTICALS CORPORATION 2009 - 2011
  • Phase I Trial of Sorafenib in Children with Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas (PN)  awarded by Children's Tumor Foundation 2009 - 2011
  • Investigator On

  • Exploring Nonsense Suppression as a Treatment for NF1  awarded by GILBERT GENE THERAPY INITIATIVE, LLC 2018 - 2021
  • NF1 Gene Rescue in Translational Animal Models  awarded by GILBERT GENE THERAPY INITIATIVE, LLC 2018 - 2021
  • NF1 RNA Repair Based on Therapeutic Ribozymes  awarded by GILBERT GENE THERAPY INITIATIVE, LLC 2018 - 2021
  • Early Biomarkers of Autism Spectrum Disorders in Infants with Tuberous Sclerosis  awarded by CHILDREN'S HOSPITAL (BOSTON) 2013 - 2019
  • Neurofibromatosis Type 1 Dermal Neurofibroma Longitudinal Natural History Study and Selumetinib Clinical Trial  awarded by Johns Hopkins University 2016 - 2019
  • UAB Center for Clinical and Translational Science (CCTS) (3 Linked Awards UL1, KL2, TL1)  awarded by National Center for Advancing Translational Sciences/NIH/DHHS 2015 - 2019
  • Private Grant  awarded by NOVARTIS PHARMACEUTICALS CORPORATION 2013 - 2018
  • UAB Research and Education Program in Neurology, Neurosurgery, and Neuropathology  awarded by National Institute of Neurological Disorders and Stroke/NIH/DHHS 2012 - 2017
  • Training Program in the Neurobiology of Cognition and Cognitive Disorders  awarded by National Institute of Neurological Disorders and Stroke/NIH/DHHS 2013 - 2016
  • UAB Mental Retardation Research Center  awarded by National Institute of Child Health and Human Development/NIH/DHHS 2008 - 2014
  • UAB Mental Retardation Research Center - Core A  awarded by National Institute of Child Health and Human Development/NIH/DHHS 2008 - 2014
  • Education And Training

  • Doctor of Medicine, Cornell University
  • Doctor of Philosophy in Genetics, The Rockefeller University
  • Full Name

  • Bruce Korf
  • Blazerid

  • bkorf