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Items: 1 to 50 of 159

1.

Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation.

Dean M, Messiaen L, Cooper GM, Amaral MD, Rashid S, Korf BR, Standaert DG.

Neurology. 2019 Sep 10;93(11):510-514. doi: 10.1212/WNL.0000000000008089. No abstract available.

PMID:
31501304
2.

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

Carnes RM, Kesterson RA, Korf BR, Mobley JA, Wallis D.

Genes (Basel). 2019 Aug 28;10(9). pii: E650. doi: 10.3390/genes10090650.

3.

The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.

Horowitz CR, Orlando LA, Slavotinek AM, Peterson J, Angelo F, Biesecker B, Bonham VL, Cameron LD, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hindorff LA, Jarvik GP, Kaufman D, Kenny EE, Knight SJ, Koenig BA, Korf BR, Madden E, McGuire AL, Ou J, Wasserstein MP, Robinson M, Leventhal H, Sanderson SC.

Am J Hum Genet. 2019 Jun 6;104(6):1088-1096. doi: 10.1016/j.ajhg.2019.04.006. Epub 2019 May 16.

PMID:
31104772
4.

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

Popov IK, Hiatt SM, Whalen S, Keren B, Ruivenkamp C, van Haeringen A, Chen MJ, Cooper GM, Korf BR, Chang C.

Front Physiol. 2019 Apr 8;10:388. doi: 10.3389/fphys.2019.00388. eCollection 2019.

5.

Health Supervision for Children With Neurofibromatosis Type 1.

Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR; COUNCIL ON GENETICS; AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS.

Pediatrics. 2019 May;143(5). pii: e20190660. doi: 10.1542/peds.2019-0660.

PMID:
31010905
6.

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

Carnes RM, Mobley JA, Crossman DK, Liu H, Korf BR, Kesterson RA, Wallis D.

Proteomics. 2019 Jun;19(11):e1800334. doi: 10.1002/pmic.201800334.

PMID:
30908848
7.

Response to Hannah-Shmouni and Stratakis.

Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K.

Genet Med. 2019 May;21(5):1256. doi: 10.1038/s41436-018-0313-0. Epub 2018 Oct 4. No abstract available.

PMID:
30283095
8.

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.

Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM.

Genet Med. 2019 Mar;21(3):764-765. doi: 10.1038/s41436-018-0326-8.

PMID:
30275510
9.

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.

Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM.

Genet Med. 2019 Apr;21(4):867-876. doi: 10.1038/s41436-018-0269-0. Epub 2018 Sep 7. Erratum in: Genet Med. 2019 Mar;21(3):764-765.

PMID:
30190611
10.

Germline and Somatic NF1 Alterations Are Linked to Increased HER2 Expression in Breast Cancer.

Wang X, Kallionpää RA, Gonzales PR, Chitale DA, Tousignant RN, Crowley JP, Chen Z, Yoder SJ, Blakeley JO, Acosta MT, Korf BR, Messiaen LM, Tainsky MA.

Cancer Prev Res (Phila). 2018 Oct;11(10):655-664. doi: 10.1158/1940-6207.CAPR-18-0072. Epub 2018 Aug 13.

PMID:
30104415
11.

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

Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K.

Genet Med. 2018 Jul;20(7):671-682. doi: 10.1038/gim.2018.28. Epub 2018 Apr 26.

PMID:
30006586
12.

Unusual presentation of hereditary leiomyomatosis mimicking neurofibromatosis.

Bevans SL, Mayo TT, Pavlidakey PG, Cannon AD, Korf BR, Mercado PJ.

JAAD Case Rep. 2018 Apr 30;4(5):440-441. doi: 10.1016/j.jdcr.2017.12.013. eCollection 2018 Jun. No abstract available.

13.

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

Wallis D, Li K, Lui H, Hu K, Chen MJ, Li J, Kang J, Das S, Korf BR, Kesterson RA.

Hum Mutat. 2018 Jun;39(6):816-821. doi: 10.1002/humu.23421. Epub 2018 Apr 10.

PMID:
29522274
14.

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

Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM.

Am J Hum Genet. 2018 Jan 4;102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28.

15.

Neurofibromatosis Clinical Trial Consortium.

Packer RJ, Fisher MJ, Cutter G, Cole-Plourde K, Korf BR.

J Child Neurol. 2018 Jan;33(1):82-91. doi: 10.1177/0883073817739196. Review.

PMID:
29246097
16.

Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.

Wang X, Teer JK, Tousignant RN, Levin AM, Boulware D, Chitale DA, Shaw BM, Chen Z, Zhang Y, Blakeley JO, Acosta MT, Messiaen LM, Korf BR, Tainsky MA.

Genes Chromosomes Cancer. 2018 Jan;57(1):19-27. doi: 10.1002/gcc.22503. Epub 2017 Sep 30.

PMID:
28891274
17.

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

Korf BR, Blitzer MG, Demmer LA, Feldman GL, Watson MS.

Genet Med. 2017 Sep;19(9). doi: 10.1038/gim.2017.38. Epub 2017 Apr 27. No abstract available.

18.

CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG.

Genet Med. 2017 May;19(5):606. doi: 10.1038/gim.2017.18. No abstract available.

PMID:
28492529
19.

Overview of Genetic Diagnosis in Cancer.

Korf BR, Mikhail FM.

Curr Protoc Hum Genet. 2017 Apr 6;93:10.1.1-10.1.9. doi: 10.1002/cphg.36. Review.

PMID:
28384400
20.

Neurocutaneous Disorders in Children.

Korf BR, Bebin EM.

Pediatr Rev. 2017 Mar;38(3):119-128. doi: 10.1542/pir.2015-0118. Review.

PMID:
28250072
21.

Neurofibromatosis type 1.

Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ.

Nat Rev Dis Primers. 2017 Feb 23;3:17004. doi: 10.1038/nrdp.2017.4. Review.

PMID:
28230061
22.

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.

Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT.

Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17. Erratum in: Genet Med. 2017 Apr;19(4):484.

PMID:
27854360
23.

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

Hollenbeck D, Williams CL, Drazba K, Descartes M, Korf BR, Rutledge SL, Lose EJ, Robin NH, Carroll AJ, Mikhail FM.

Genet Med. 2017 Apr;19(4):377-385. doi: 10.1038/gim.2016.132. Epub 2016 Sep 15.

PMID:
27632688
24.

Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.

Li K, Turner AN, Chen M, Brosius SN, Schoeb TR, Messiaen LM, Bedwell DM, Zinn KR, Anastasaki C, Gutmann DH, Korf BR, Kesterson RA.

Dis Model Mech. 2016 Jul 1;9(7):759-67. doi: 10.1242/dmm.025783. Epub 2016 Jun 2.

25.

Overview of Clinical Cytogenetics.

Gonzales PR, Carroll AJ, Korf BR.

Curr Protoc Hum Genet. 2016 Apr 1;89:8.1.1-8.1.13. doi: 10.1002/0471142905.hg0801s89.

PMID:
27037488
26.

How to know when physicians are ready for genomic medicine.

Vassy JL, Korf BR, Green RC.

Sci Transl Med. 2015 May 13;7(287):287fs19. doi: 10.1126/scitranslmed.aaa2401.

27.

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

Hamm JA, Carroll AJ, Mikhail FM, Korf BR, Finley WH.

Am J Med Genet A. 2015 Jul;167(7):1610-3. doi: 10.1002/ajmg.a.37031. Epub 2015 May 5.

PMID:
25944586
28.

Spinal neurofibromatosis and phenotypic heterogeneity in NF1.

Korf BR.

Clin Genet. 2015 May;87(5):399-400. doi: 10.1111/cge.12532. No abstract available.

PMID:
25865364
29.

Pushing the envelope in genomics education.

Korf BR.

Genet Med. 2015 Nov;17(11):857-8. doi: 10.1038/gim.2015.20. Epub 2015 Mar 19. No abstract available.

PMID:
25790159
30.

Clinical response to bevacizumab in schwannomatosis.

Blakeley J, Schreck KC, Evans DG, Korf BR, Zagzag D, Karajannis MA, Bergner AL, Belzberg AJ.

Neurology. 2014 Nov 18;83(21):1986-7. doi: 10.1212/WNL.0000000000000997. Epub 2014 Oct 22. No abstract available.

31.

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.

Korf BR, Berry AB, Limson M, Marian AJ, Murray MF, O'Rourke PP, Passamani ER, Relling MV, Tooker J, Tsongalis GJ, Rodriguez LL.

Genet Med. 2014 Nov;16(11):804-9. doi: 10.1038/gim.2014.35. Epub 2014 Apr 24.

PMID:
24763287
32.

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.

Kingswood JC, Jozwiak S, Belousova ED, Frost MD, Kuperman RA, Bebin EM, Korf BR, Flamini JR, Kohrman MH, Sparagana SP, Wu JY, Brechenmacher T, Stein K, Berkowitz N, Bissler JJ, Franz DN.

Nephrol Dial Transplant. 2014 Jun;29(6):1203-10. doi: 10.1093/ndt/gfu013. Epub 2014 Apr 11.

33.

The medical genetics residency milestones.

Korf BR.

J Grad Med Educ. 2014 Mar;6(1 Suppl 1):87-90. doi: 10.4300/JGME-06-01s1-31. No abstract available.

34.

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.

Widemann BC, Dombi E, Gillespie A, Wolters PL, Belasco J, Goldman S, Korf BR, Solomon J, Martin S, Salzer W, Fox E, Patronas N, Kieran MW, Perentesis JP, Reddy A, Wright JJ, Kim A, Steinberg SM, Balis FM.

Neuro Oncol. 2014 May;16(5):707-18. doi: 10.1093/neuonc/nou004. Epub 2014 Feb 4.

35.

Genomic medicine: educational challenges.

Korf BR.

Mol Genet Genomic Med. 2013 Sep;1(3):119-22. doi: 10.1002/mgg3.38. No abstract available.

36.

CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.

Widemann BC, Acosta MT, Ammoun S, Belzberg AJ, Bernards A, Blakeley J, Bretscher A, Cichowski K, Clapp DW, Dombi E, Evans GD, Ferner R, Fernandez-Valle C, Fisher MJ, Giovannini M, Gutmann DH, Hanemann CO, Hennigan R, Huson S, Ingram D, Kissil J, Korf BR, Legius E, Packer RJ, McClatchey AI, McCormick F, North K, Pehrsson M, Plotkin SR, Ramesh V, Ratner N, Schirmer S, Sherman L, Schorry E, Stevenson D, Stewart DR, Ullrich N, Bakker AC, Morrison H.

Am J Med Genet A. 2014 Mar;164A(3):563-78. doi: 10.1002/ajmg.a.36312. Epub 2014 Jan 17.

37.

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

Yurkiewicz IR, Korf BR, Lehmann LS.

N Engl J Med. 2014 Jan 16;370(3):195-7. doi: 10.1056/NEJMp1215536. No abstract available.

PMID:
24428465
38.

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.

Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM.

Nat Genet. 2014 Feb;46(2):182-7. doi: 10.1038/ng.2855. Epub 2013 Dec 22.

39.

Recommendations for imaging tumor response in neurofibromatosis clinical trials.

Dombi E, Ardern-Holmes SL, Babovic-Vuksanovic D, Barker FG, Connor S, Evans DG, Fisher MJ, Goutagny S, Harris GJ, Jaramillo D, Karajannis MA, Korf BR, Mautner V, Plotkin SR, Poussaint TY, Robertson K, Shih CS, Widemann BC; REiNS International Collaboration.

Neurology. 2013 Nov 19;81(21 Suppl 1):S33-40. doi: 10.1212/01.wnl.0000435744.57038.af.

40.

Integration of genomics into medical practice.

Korf BR.

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

41.

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.

Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20. Erratum in: Genet Med. 2017 May;19(5):606.

42.

Neurofibromatosis.

Korf BR.

Handb Clin Neurol. 2013;111:333-40. doi: 10.1016/B978-0-444-52891-9.00039-7. Review.

PMID:
23622184
43.

Genomic privacy in the information age.

Korf BR.

Clin Chem. 2013 Aug;59(8):1148-50. doi: 10.1373/clinchem.2013.205260. Epub 2013 Apr 19. No abstract available.

44.

New approaches to molecular diagnosis.

Korf BR, Rehm HL.

JAMA. 2013 Apr 10;309(14):1511-21. doi: 10.1001/jama.2013.3239.

PMID:
23571590
45.

Optimizing biologically targeted clinical trials for neurofibromatosis.

Gutmann DH, Blakeley JO, Korf BR, Packer RJ.

Expert Opin Investig Drugs. 2013 Apr;22(4):443-62. doi: 10.1517/13543784.2013.772979. Epub 2013 Feb 21. Review.

46.

Overview of molecular genetic diagnosis.

Harada S, Korf BR.

Curr Protoc Hum Genet. 2013;Chapter 9:Unit9.1. doi: 10.1002/0471142905.hg0901s76. Review.

PMID:
23315929
47.

Biochemical genetics. Introduction.

Sharer JD, Korf BR.

Curr Protoc Hum Genet. 2012 Apr;Chapter 17:Unit 17.0.1. doi: 10.1002/0471142905.hg1700s73. No abstract available.

PMID:
22470143
48.

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, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ.

Genet Med. 2012 Apr;14(4):405-10. doi: 10.1038/gim.2012.21. Epub 2012 Mar 15.

49.

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 BR, Mautner VF, McClatchey AI, Miao H, Plotkin SR, Slattery W 3rd, Stemmer-Rachamimov AO, Welling DB, Wen PY, Widemann B, Hunter-Schaedle K, Giovannini M.

Am J Med Genet A. 2012 Jan;158A(1):24-41. doi: 10.1002/ajmg.a.34359. Epub 2011 Dec 2.

50.

Competencies for the physician medical geneticist in the 21st century.

Korf BR, Irons M, Watson MS.

Genet Med. 2011 Nov;13(11):911-2. doi: 10.1097/GIM.0b013e31823331f9. No abstract available.

PMID:
22075526

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