Publications by authors named "Bruce R Korf"

99Publications

mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis.

Neurol Genet 2020 Aug 25;6(4):e476. Epub 2020 Jun 25.

Department of Neurology (M.K., M.B., E.E.U.), University of Alabama at Birmingham (UAB); Department of Pediatrics (M.A.L., M.B.), Children's of Alabama | UAB; HudsonAlpha Institute for Biotechnology (K.B., G.S.B., G.M.C.), Huntsville, AL; and Department of Genetics (B.R.K., A.C.E.H.), UAB.

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http://dx.doi.org/10.1212/NXG.0000000000000476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413605PMC
August 2020

Mutation-Directed Therapeutics for Neurofibromatosis Type I.

Mol Ther Nucleic Acids 2020 Jun 29;20:739-753. Epub 2020 Apr 29.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.omtn.2020.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7225739PMC
June 2020

An Update on Neurofibromatosis Type 1-Associated Gliomas.

Cancers (Basel) 2020 Jan 1;12(1). Epub 2020 Jan 1.

Division of Neuro Oncology, Department of Neurology, University of Alabama at Birmingham, 510 20th Street South, Faculty Office Tower suite 1020 Birmingham, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.3390/cancers12010114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017116PMC
January 2020

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973139PMC
January 2020

Child Neurology: Spastic paraparesis and dystonia with a novel mutation.

Neurology 2019 09;93(11):510-514

From the Departments of Neurology (M.D., D.G.S.) and Genetics (L.M., B.R.K.) and Division of Pediatric Neurology, Department of Pediatrics (S.R.), University of Alabama at Birmingham; and HudsonAlpha Institute for Biotechnology (G.M.C., M.D.A.), Huntsville, AL.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000008089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6746208PMC
September 2019

Affinity Purification of NF1 Protein-Protein Interactors Identifies Keratins and Neurofibromin Itself as Binding Partners.

Genes (Basel) 2019 08 28;10(9). Epub 2019 Aug 28.

Department of Genetics, The University of Alabama at Birmingham, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.3390/genes10090650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6770187PMC
August 2019

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway.

Front Physiol 2019 8;10:388. Epub 2019 Apr 8.

Department of Cell, Developmental and Integrative Biology, The University of Alabama at Birmingham, Birmingham, AL, United States.

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https://www.frontiersin.org/article/10.3389/fphys.2019.00388
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http://dx.doi.org/10.3389/fphys.2019.00388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465419PMC
April 2019

Multi-Omics Profiling for NF1 Target Discovery in Neurofibromin (NF1) Deficient Cells.

Proteomics 2019 06;19(11):e1800334

Department of Genetics, University of Alabama at Birmingham, 35294, Birmingham, AL, USA.

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http://dx.doi.org/10.1002/pmic.201800334DOI Listing
June 2019

Response to Hannah-Shmouni and Stratakis.

Genet Med 2019 05 4;21(5):1256. Epub 2018 Oct 4.

Department of Neurology, New York University School of Medicine, New York, NY, USA.

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http://www.nature.com/articles/s41436-018-0313-0
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http://dx.doi.org/10.1038/s41436-018-0313-0DOI Listing
May 2019

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.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608433PMC
March 2019

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.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2018 07 26;20(7):671-682. Epub 2018 Apr 26.

Department of Neurology, New York University School of Medicine, New York, New York, USA.

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http://www.nature.com/articles/gim201828
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http://dx.doi.org/10.1038/gim.2018.28DOI Listing
July 2018

Unusual presentation of hereditary leiomyomatosis mimicking neurofibromatosis.

JAAD Case Rep 2018 Jun 30;4(5):440-441. Epub 2018 Apr 30.

Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama.

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http://dx.doi.org/10.1016/j.jdcr.2017.12.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031563PMC
June 2018

Neurofibromin (NF1) genetic variant structure-function analyses using a full-length mouse cDNA.

Hum Mutat 2018 06 10;39(6):816-821. Epub 2018 Apr 10.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL.

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http://dx.doi.org/10.1002/humu.23421DOI Listing
June 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Neurofibromatosis Clinical Trial Consortium.

J Child Neurol 2018 Jan;33(1):82-91

5 University of Alabama at Birmingham, Birmingham, AL, USA.

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http://journals.sagepub.com/doi/10.1177/0883073817739196
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http://dx.doi.org/10.1177/0883073817739196DOI Listing
January 2018

Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23-26 February 2014.

Genet Med 2017 09 27;19(9). Epub 2017 Apr 27.

American College of Medical Genetics and Genomics, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2017.38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589971PMC
September 2017

Overview of Genetic Diagnosis in Cancer.

Curr Protoc Hum Genet 2017 04 6;93:10.1.1-10.1.9. Epub 2017 Apr 6.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

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http://dx.doi.org/10.1002/cphg.36DOI Listing
April 2017

Neurocutaneous Disorders in Children.

Pediatr Rev 2017 Mar;38(3):119-128

Neurology and Pediatrics, University of Alabama at Birmingham, Birmingham, AL.

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http://dx.doi.org/10.1542/pir.2015-0118DOI Listing
March 2017

Neurofibromatosis type 1.

Nat Rev Dis Primers 2017 Feb 23;3:17004. Epub 2017 Feb 23.

Master of Public Health Program, Brown School, St. Louis, Missouri, USA.

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http://www.nature.com/articles/nrdp20174
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http://dx.doi.org/10.1038/nrdp.2017.4DOI Listing
February 2017

Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.

Genet Med 2017 04 15;19(4):377-385. Epub 2016 Sep 15.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/gim.2016.132DOI Listing
April 2017

Overview of Clinical Cytogenetics.

Curr Protoc Hum Genet 2016 Apr 1;89:8.1.1-8.1.13. Epub 2016 Apr 1.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.

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http://doi.wiley.com/10.1002/0471142905.hg0801s89
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http://dx.doi.org/10.1002/0471142905.hg0801s89DOI Listing
April 2016

How to know when physicians are ready for genomic medicine.

Sci Transl Med 2015 May;7(287):287fs19

Department of Medicine, Harvard Medical School, Boston, MA 02115, USA. Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.

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http://stm.sciencemag.org/lookup/doi/10.1126/scitranslmed.aa
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http://dx.doi.org/10.1126/scitranslmed.aaa2401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519005PMC
May 2015

Partial trisomy 21: a fifty-year follow-up visit.

Am J Med Genet A 2015 Jul 5;167(7):1610-3. Epub 2015 May 5.

Department of Genetics at the University of Alabama at Birmingham, Birmingham, Alabama.

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http://dx.doi.org/10.1002/ajmg.a.37031DOI Listing
July 2015

Spinal neurofibromatosis and phenotypic heterogeneity in NF1.

Authors:
Bruce R Korf

Clin Genet 2015 May;87(5):399-400

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://dx.doi.org/10.1111/cge.12532DOI Listing
May 2015

Pushing the envelope in genomics education.

Authors:
Bruce R Korf

Genet Med 2015 Nov 19;17(11):857-8. Epub 2015 Mar 19.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/gim.2015.20DOI Listing
November 2015

Clinical response to bevacizumab in schwannomatosis.

Neurology 2014 Nov 22;83(21):1986-7. Epub 2014 Oct 22.

From The Johns Hopkins Hospital (J.O.B., K.C.S., A.L.B., A.J.B.), Baltimore, MD; St. Mary's Hospital (D.G.E.), Manchester, UK; University of Alabama at Birmingham (B.K.); and NYU Langone Medical Center (D.Z., M.A.K.), New York.

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http://dx.doi.org/10.1212/WNL.0000000000000997DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248457PMC
November 2014

The medical genetics residency milestones.

Authors:
Bruce R Korf

J Grad Med Educ 2014 Mar;6(1 Suppl 1):87-90

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http://dx.doi.org/10.4300/JGME-06-01s1-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3966601PMC
March 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 Oncol 2014 May 4;16(5):707-18. Epub 2014 Feb 4.

Pediatric Oncology Branch, National Cancer Institute, Bethesda, Maryland (B.W., E.D., A.G., P.W., S.M., E.F., F.B.); Cancer Therapy Evaluation Program, Investigational Drug Branch, National Cancer Institute, Bethesda, Maryland (J.W.); Biostatistics and Data Management Section, National Cancer Institute, Bethesda, Maryland (S.S.); Diagnostic Radiology Department, National Institutes of Health, Bethesda, Maryland (N.P.); The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (J.B., E.F., F.B.); Ann and Robert H. Lurie Children's Hospital, Chicago, Illinois (S.G.); Department of Genetics, University of Alabama at Birmingham, South Birmingham, Alabama (B.K.); Expert Image Analysis LC, Potomac, Maryland (J.S.); Dana-Farber/Children's Hospital Cancer Center, Boston, Massachusetts (M.K.); Cincinnati Children's Hospital, Cincinnati, Ohio (J.P.); Children's National Medical Center, Washington, DC (A.K.); US Army Medical Research and Material Command, Fort Detrick, Maryland (W.S.); Children's Hospital of Alabama, Birmingham, Alabama (A.R.).

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http://dx.doi.org/10.1093/neuonc/nou004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984559PMC
May 2014

Genomic medicine: educational challenges.

Authors:
Bruce R Korf

Mol Genet Genomic Med 2013 Sep;1(3):119-22

Department of Genetics, University of Alabama at Birmingham Birmingham, Alabama, 35294.

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http://dx.doi.org/10.1002/mgg3.38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865578PMC
September 2013

Prenatal whole-genome sequencing--is the quest to know a fetus's future ethical?

N Engl J Med 2014 Jan;370(3):195-7

From Harvard Medical School (I.R.Y.) and the Center for Bioethics, Brigham and Women's Hospital (L.S.L.) - both in Boston; and the Department of Genetics, University of Alabama at Birmingham, Birmingham (B.R.K.).

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http://dx.doi.org/10.1056/NEJMp1215536DOI Listing
January 2014

Recommendations for imaging tumor response in neurofibromatosis clinical trials.

Neurology 2013 Nov;81(21 Suppl 1):S33-40

From the Pediatric Oncology Branch (E.D., B.C.W.), National Cancer Institute, Bethesda, MD; Department of Neurology (S.L.A.-H.), The Children's Hospital at Westmead, Sydney, Australia; Department of Medical Genetics (D. B.-V.), Mayo Clinic, Rochester, MN; Neurosurgical Service (F.G.B.), Department of Radiology (G.J.H.), and Department of Neurology and Cancer Center (S.R.P.), Massachusetts General Hospital, Boston, MA; Department of Neuroradiology (S.C.), King's College Hospital, London, UK; Department of Genetic Medicine (D.G.E.), MAHSC, St Mary's Hospital, Manchester, UK; Division of Oncology (M.J.F.) and Department of Radiology (D.J.), The Children's Hospital of Philadelphia; Department of Pediatrics (M.J.F.), The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Department of Neurosurgery (S.G.), Hôpital Beaujon, Clichy, France; Division of Pediatric Hematology/Oncology and NYU Cancer Institute (M.A.K.), NYU Langone Medical Center, New York, NY; Department of Genetics (B.R.K.), University of Alabama at Birmingham, Birmingham, AL; Department of Neurology (V.M.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Department of Radiology (T.Y.P.), Boston Children's Hospital, Boston, MA; and Department of Pediatrics (K.R., C.-S.S.), Riley Hospital for Children, Indianapolis, IN.

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http://dx.doi.org/10.1212/01.wnl.0000435744.57038.afDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908340PMC
November 2013

Integration of genomics into medical practice.

Authors:
Bruce R Korf

Discov Med 2013 Nov;16(89):241-8

Department of Genetics, University of Alabama at Birmingham, 1720 2nd Ave. South, Kaul 230, Birmingham, Alabama 35294, USA.

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November 2013

Neurofibromatosis.

Authors:
Bruce R Korf

Handb Clin Neurol 2013 ;111:333-40

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-52891-9.00039-7DOI Listing
April 2014

Genomic privacy in the information age.

Authors:
Bruce R Korf

Clin Chem 2013 Aug 19;59(8):1148-50. Epub 2013 Apr 19.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.clinchem.org/content/59/8/1148.full.pdf
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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2013.205260
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http://dx.doi.org/10.1373/clinchem.2013.205260DOI Listing
August 2013

New approaches to molecular diagnosis.

JAMA 2013 Apr;309(14):1511-21

Department of Genetics, University of Alabama at Birmingham, 1720 Second Ave S, Kaul 230, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1001/jama.2013.3239DOI Listing
April 2013

Optimizing biologically targeted clinical trials for neurofibromatosis.

Expert Opin Investig Drugs 2013 Apr 21;22(4):443-62. Epub 2013 Feb 21.

Washington University School of Medicine, Department of Neurology and Washington University Neurofibromatosis Center, 660 South Euclid Avenue, St. Louis, MO 63110, USA.

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http://www.tandfonline.com/doi/full/10.1517/13543784.2013.77
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http://dx.doi.org/10.1517/13543784.2013.772979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4009992PMC
April 2013

Overview of molecular genetic diagnosis.

Curr Protoc Hum Genet 2013 ;Chapter 9:Unit9.1

University of Alabama at Birmingham, USA.

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http://dx.doi.org/10.1002/0471142905.hg0901s76DOI Listing
June 2013

Biochemical genetics. Introduction.

Curr Protoc Hum Genet 2012 Apr;Chapter 17:Unit 17.0.1

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http://dx.doi.org/10.1002/0471142905.hg1700s73DOI Listing
April 2012

Genetics and genomics education: the next generation.

Authors:
Bruce R Korf

Genet Med 2011 Mar;13(3):201-2

Department of Genetics, University of Alabama at Birmingham, Alabama, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31820986cdDOI Listing
March 2011

Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.

J Am Acad Dermatol 2010 Sep 3;63(3):440-7. Epub 2010 Jun 3.

Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S019096220901251
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http://dx.doi.org/10.1016/j.jaad.2009.09.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2922676PMC
September 2010

Neurofibromatosis type 1.

J Am Acad Dermatol 2009 Jul;61(1):1-14; quiz 15-6

Departments of Dermatology and Genetics, University of Alabama at Birmingham, 1530 3rd Ave S., Birmingham, AL 35294-0009, USA.

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http://dx.doi.org/10.1016/j.jaad.2008.12.051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2716546PMC
July 2009

AsktheGeneticist: five years of online experience.

Genet Med 2009 Apr;11(4):294-304

Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31819b2441DOI Listing
April 2009

Statins, bone, and neurofibromatosis type 1.

Authors:
Bruce R Korf

BMC Med 2008 Jul 31;6:22. Epub 2008 Jul 31.

Department of Genetics, University of Alabama at Birmingham, 1530 Third Avenue South, Kaul 230, Birmingham, AL, USA.

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http://dx.doi.org/10.1186/1741-7015-6-22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2531128PMC
July 2008

Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12-14, 2006.

Genet Med 2008 Jul;10(7):502-7

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.

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http://dx.doi.org/10.1097/gim.0b013e31817701feDOI Listing
July 2008

Developing a national collaborative study system for rare genetic diseases.

Genet Med 2008 May;10(5):325-9

American College of Medical Genetics, Bethesda, Maryland 20814, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31817b80fdDOI Listing
May 2008

Overview of molecular genetic diagnosis.

Authors:
Bruce R Korf

Curr Protoc Hum Genet 2006 Feb;Chapter 9:Unit 9.1

University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1002/0471142905.hg0901s48DOI Listing
February 2006

Cancer risk assessment and the genetic counseling process: using hereditary breast and ovarian cancer as an example.

Med Princ Pract 2008 10;17(3):173-89. Epub 2008 Apr 10.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Ala., USA.

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http://dx.doi.org/10.1159/000117790DOI Listing
June 2008

Genetic testing in cardiovascular disease.

J Am Coll Cardiol 2007 Aug 6;50(8):727-37. Epub 2007 Aug 6.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.

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http://dx.doi.org/10.1016/j.jacc.2007.05.015DOI Listing
August 2007

Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.

Am J Hum Genet 2007 Apr 12;80(4):792-9. Epub 2007 Feb 12.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1086/513019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852716PMC
April 2007

Impact of neurofibromatosis 1 on Quality of Life: a cross-sectional study of 176 American cases.

Am J Med Genet A 2006 Sep;140(18):1893-8

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1002/ajmg.a.31422DOI Listing
September 2006

Pathophysiology of neurofibromatosis type 1.

Ann Intern Med 2006 Jun;144(11):842-9

University of Alabama at Birmingham, Birmingham, Alabama, AL 35294, USA.

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http://annals.org/data/Journals/AIM/20116/0000605-200606060-
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http://dx.doi.org/10.7326/0003-4819-144-11-200606060-00010DOI Listing
June 2006

Genetics training in the genomic era.

Authors:
Bruce R Korf

Curr Opin Pediatr 2005 Dec;17(6):747-50

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35242, USA.

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http://dx.doi.org/10.1097/01.mop.0000187187.51424.a2DOI Listing
December 2005

The case for strategic international alliances to harness nutritional genomics for public and personal health.

Br J Nutr 2005 Nov;94(5):623-32

Center of Excellence in Nutritional Genomics, University of California, Davis, CA 95616, USA.

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http://repositorio.uchile.cl/bitstream/handle/2250/123828/Ka
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http://dx.doi.org/10.1079/bjn20051585DOI Listing
November 2005

Report of Banbury Summit meeting on training of physicians in medical genetics, October 20-22, 2004.

Genet Med 2005 Jul-Aug;7(6):433-8

University of Alabama at Birmingham, Birmingham, AL, USA.

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http://dx.doi.org/10.1097/01.gim.0000171324.58121.cfDOI Listing
September 2005

Psychiatric genetics: a survey of psychiatrists' knowledge, opinions, and practice patterns.

J Clin Psychiatry 2005 Jul;66(7):821-30

Department of Psychiatry, the Psychiatric Genetics Program in Mood and Anxiety Disorders, Massachusetts General Hospital, Boston, Mass. 02115, USA.

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http://dx.doi.org/10.4088/jcp.v66n0703DOI Listing
July 2005

Genetics in medical practice: the need for ultimate makeover.

Authors:
Bruce R Korf

Genet Med 2005 May-Jun;7(5):293-4

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http://dx.doi.org/10.1097/01.gim.0000164551.44846.f6DOI Listing
August 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.

N Engl J Med 2005 Apr;352(17):1800-8

Department of Genetics, University of Alabama at Birmingham, USA.

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http://dx.doi.org/10.1056/NEJMcpc059008DOI Listing
April 2005

The phakomatoses.

Authors:
Bruce R Korf

Clin Dermatol 2005 Jan-Feb;23(1):78-84

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA.

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http://dx.doi.org/10.1016/j.clindermatol.2004.09.007DOI Listing
June 2005

Outline of a medical genetics curriculum for internal medicine residency training programs.

Genet Med 2004 Nov-Dec;6(6):543-7

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Hospital, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1097/01.gim.0000144561.77590.85DOI Listing
February 2005

Basic genetics.

Authors:
Bruce R Korf

Prim Care 2004 Sep;31(3):461-78, vii

Department of Genetics, University of Alabama at Birmingham, 1530 3rd Avenue, South Kaul 230, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1016/j.pop.2004.04.012DOI Listing
September 2004

The phakomatoses.

Authors:
Bruce R Korf

Neuroimaging Clin N Am 2004 May;14(2):139-48, vii

Department of Genetics, University of Alabama at Birmingham, 1530 Third Avenue South, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1016/j.nic.2004.03.008DOI Listing
May 2004

Integration of genetics into medical practice.

Authors:
Bruce R Korf

Growth Horm IGF Res 2004 Jun;14 Suppl A:S146-9

Department of Genetics, University of Alabama at Birmingham, 1530 3rd Avenue South, Hugh Kaul Human Genetics Bldg. 230, Birmingham, AL 35294-0024, USA.

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http://dx.doi.org/10.1016/j.ghir.2004.03.032DOI Listing
June 2004

What's new in neurogenetics? Amish microcephaly.

Authors:
Bruce R Korf

Eur J Paediatr Neurol 2003 ;7(6):393-4

Department of Genetics, University of Alabama at Birmingham, Kaul Human Genetics Building Rm 230, 720 20th Street South, Birmingham, AL 35294-0024, USA.

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http://dx.doi.org/10.1016/j.ejpn.2003.09.005DOI Listing
February 2004

Deletion of the SLUG (SNAI2) gene results in human piebaldism.

Am J Med Genet A 2003 Oct;122A(2):125-32

Instituto de Biología Molecular y Celular del Cáncer (IBMCC), Centro de Investigación del Cáncer, CSIC/Universidad de Salamanca, Salamanca, Spain.

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http://dx.doi.org/10.1002/ajmg.a.20345DOI Listing
October 2003

Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases.

Am J Med Genet A 2003 Sep;122A(1):63-9

Division of Medical Genetics, Department of Pediatrics, Ramathibodi Hospital, Bangkok, Thailand.

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http://dx.doi.org/10.1002/ajmg.a.20241DOI Listing
September 2003

Human chromosome 7: DNA sequence and biology.

Science 2003 May 10;300(5620):767-72. Epub 2003 Apr 10.

Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.

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http://dx.doi.org/10.1126/science.1083423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2882961PMC
May 2003

Integration of genetics into clinical teaching in medical school education.

Authors:
Bruce R Korf

Genet Med 2002 Nov-Dec;4(6 Suppl):33S-38S

Harvard-Partners Center for Genetics and Genomics, Boston, MA 02115, USA.

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http://dx.doi.org/10.1097/00125817-200211001-00007DOI Listing
May 2003

Genetics in medical practice.

Authors:
Bruce R Korf

Genet Med 2002 Nov-Dec;4(6 Suppl):10S-14S

Harvard-Partners Center for Genetics and Genomics, Boston, MA 02115, USA.

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http://dx.doi.org/10.1097/00125817-200211001-00003DOI Listing
May 2003

Anaesthetic management of children with tuberous sclerosis.

Paediatr Anaesth 2002 Oct;12(8):700-4

Department of Anaesthesia, Children's Hospital, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1046/j.1460-9592.2002.00917.xDOI Listing
October 2002

Genetics and medical practice: new approaches to "old" disorders.

Authors:
Bruce R Korf

Curr Opin Pediatr 2002 Dec;14(6):688-90

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http://dx.doi.org/10.1097/00008480-200212000-00007DOI Listing
December 2002

Determination of end points for treatment of neurofibromatosis 1.

Authors:
Bruce R Korf

J Child Neurol 2002 Aug;17(8):642-5; discussion 646-51

Harvard-Partners Center for Genetics and Genomics, Boston, MA 02115, USA.

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http://dx.doi.org/10.1177/088307380201700817DOI Listing
August 2002

Clinical features and pathobiology of neurofibromatosis 1.

Authors:
Bruce R Korf

J Child Neurol 2002 Aug;17(8):573-7; discussion 602-4, 646-51

Harvard-Partners Center for Genetics and Genomics, Boston, MA 02115, USA.

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http://journals.sagepub.com/doi/10.1177/088307380201700806
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http://dx.doi.org/10.1177/088307380201700806DOI Listing
August 2002

Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force.

Genet Med 2002 May-Jun;4(3):105-11

Department of Medical Genetics, University of British Columbia, 6174 University Boulevard, Vancouver, BC V6T 1Z3, Canada.

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http://dx.doi.org/10.1097/00125817-200205000-00002DOI Listing
August 2003

Case vignette: genetic secrets.

Ethics Behav 1992 ;2(2):129-39

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http://dx.doi.org/10.1207/s15327019eb0202_6DOI Listing
October 1992