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Items: 1 to 50 of 224

1.

Response to Hannah-Shmouni and Stratakis.

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

Genet Med. 2018 Oct 4. doi: 10.1038/s41436-018-0313-0. [Epub ahead of print] No abstract available.

PMID:
30283095
2.

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. 2018 Oct 1. doi: 10.1038/s41436-018-0326-8. [Epub ahead of print]

PMID:
30275510
3.

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. 2018 Sep 7. doi: 10.1038/s41436-018-0269-0. [Epub ahead of print] Erratum in: Genet Med. 2018 Oct 1;:.

PMID:
30190611
4.

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
5.

Epilepsy treatment patterns among patients with tuberous sclerosis complex.

Song J, Swallow E, Said Q, Peeples M, Meiselbach M, Signorovitch J, Kohrman M, Korf B, Krueger D, Wong M, Sparagana S.

J Neurol Sci. 2018 Aug 15;391:104-108. doi: 10.1016/j.jns.2018.06.011. Epub 2018 Jun 15.

PMID:
30103955
6.

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
7.

Clinical trial design for cutaneous neurofibromas.

Cannon A, Jarnagin K, Korf B, Widemann BC, Casey D, Ko HS, Blakeley JO, Verma SK, Pichard DC.

Neurology. 2018 Jul 10;91(2 Supplement 1):S31-S37. doi: 10.1212/WNL.0000000000005790.

PMID:
29987133
8.

Cutaneous neurofibromas: Current clinical and pathologic issues.

Ortonne N, Wolkenstein P, Blakeley JO, Korf B, Plotkin SR, Riccardi VM, Miller DC, Huson S, Peltonen J, Rosenberg A, Carroll SL, Verma SK, Mautner V, Upadhyaya M, Stemmer-Rachamimov A.

Neurology. 2018 Jul 10;91(2 Supplement 1):S5-S13. doi: 10.1212/WNL.0000000000005792.

PMID:
29987130
9.

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.

10.

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
11.

Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study.

Cannon A, Chen MJ, Li P, Boyd KP, Theos A, Redden DT, Korf B.

Orphanet J Rare Dis. 2018 Feb 7;13(1):31. doi: 10.1186/s13023-018-0772-z.

12.

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.

13.

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
14.

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
15.

Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study.

Seidlin M, Holzman R, Knight P, Korf B, Rangel Miller V, Viskochil D, Bakker A; Children’s Tumor Foundation.

PLoS One. 2017 Jun 23;12(6):e0178639. doi: 10.1371/journal.pone.0178639. eCollection 2017.

16.

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.

17.

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
18.

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
19.

Patterns of Disease Monitoring and Treatment Among Patients With Tuberous Sclerosis Complex-related Angiomyolipomas.

Swallow E, King S, Song J, Peeples M, Signorovitch JE, Liu Z, Prestifilippo J, Frost M, Kohrman M, Korf B, Krueger D, Sparagana S.

Urology. 2017 Jun;104:110-114. doi: 10.1016/j.urology.2017.02.036. Epub 2017 Mar 2.

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.

Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1.

Payne JM, Barton B, Ullrich NJ, Cantor A, Hearps SJ, Cutter G, Rosser T, Walsh KS, Gioia GA, Wolters PL, Tonsgard J, Schorry E, Viskochil D, Klesse L, Fisher M, Gutmann DH, Silva AJ, Hunter SJ, Rey-Casserly C, Cantor NL, Byars AW, Stavinoha PL, Ackerson JD, Armstrong CL, Isenberg J, O'Neil SH, Packer RJ, Korf B, Acosta MT, North KN; NF Clinical Trials Consortium.

Neurology. 2016 Dec 13;87(24):2575-2584. Epub 2016 Nov 9.

23.

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
24.

Recommendations for the integration of genomics into clinical practice.

Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID.

Genet Med. 2016 Nov;18(11):1075-1084. doi: 10.1038/gim.2016.17. Epub 2016 May 12. Review.

25.

Creation of an international registry to support discovery in schwannomatosis.

Ostrow KL, Bergner AL, Blakeley J, Evans DG, Ferner R, Friedman JM, Harris GJ, Jordan JT, Korf B, Langmead S, Leschziner G, Mautner V, Merker VL, Papi L, Plotkin SR, Slopis JM, Smith MJ, Stemmer-Rachamimov A, Yohay K, Belzberg AJ.

Am J Med Genet A. 2017 Feb;173(2):407-413. doi: 10.1002/ajmg.a.38024. Epub 2016 Oct 19.

PMID:
27759912
26.

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
27.

Current status and recommendations for biomarkers and biobanking in neurofibromatosis.

Hanemann CO, Blakeley JO, Nunes FP, Robertson K, Stemmer-Rachamimov A, Mautner V, Kurtz A, Ferguson M, Widemann BC, Evans DG, Ferner R, Carroll SL, Korf B, Wolkenstein P, Knight P, Plotkin SR; REiNS International Collaboration.

Neurology. 2016 Aug 16;87(7 Suppl 1):S40-8. doi: 10.1212/WNL.0000000000002932.

28.

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.

29.

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.

Stevenson DA, Schill L, Schoyer L, Andresen BS, Bakker A, Bayrak-Toydemir P, Burkitt-Wright E, Chatfield K, Elefteriou F, Elgersma Y, Fisher MJ, Franz D, Gelb BD, Goriely A, Gripp KW, Hardan AY, Keppler-Noreuil KM, Kerr B, Korf B, Leoni C, McCormick F, Plotkin SR, Rauen KA, Reilly K, Roberts A, Sandler A, Siegel D, Walsh K, Widemann BC.

Am J Med Genet A. 2016 Aug;170(8):1959-66. doi: 10.1002/ajmg.a.37723. Epub 2016 May 7.

30.

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
31.

Hypomagnesemia due to two novel TRPM6 mutations.

Coulter M, Colvin C, Korf B, Messiaen L, Tuanama B, Crowley M, Crossman DK, McCormick K.

J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1373-8. doi: 10.1515/jpem-2014-0394.

PMID:
26226117
32.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L.

Hum Mutat. 2015 Nov;36(11):1052-63. doi: 10.1002/humu.22832. Epub 2015 Aug 21.

33.

Global implementation of genomic medicine: We are not alone.

Manolio TA, Abramowicz M, Al-Mulla F, Anderson W, Balling R, Berger AC, Bleyl S, Chakravarti A, Chantratita W, Chisholm RL, Dissanayake VH, Dunn M, Dzau VJ, Han BG, Hubbard T, Kolbe A, Korf B, Kubo M, Lasko P, Leego E, Mahasirimongkol S, Majumdar PP, Matthijs G, McLeod HL, Metspalu A, Meulien P, Miyano S, Naparstek Y, O'Rourke PP, Patrinos GP, Rehm HL, Relling MV, Rennert G, Rodriguez LL, Roden DM, Shuldiner AR, Sinha S, Tan P, Ulfendahl M, Ward R, Williams MS, Wong JE, Green ED, Ginsburg GS.

Sci Transl Med. 2015 Jun 3;7(290):290ps13. doi: 10.1126/scitranslmed.aab0194. Review.

34.

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.

35.

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
36.

The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach.

Korf B, Ahmadian R, Allanson J, Aoki Y, Bakker A, Wright EB, Denger B, Elgersma Y, Gelb BD, Gripp KW, Kerr B, Kontaridis M, Lazaro C, Linardic C, Lozano R, MacRae CA, Messiaen L, Mulero-Navarro S, Neel B, Plotkin S, Rauen KA, Roberts A, Silva AJ, Sittampalam SG, Zhang C, Schoyer L.

Am J Med Genet A. 2015 Aug;167A(8):1741-6. doi: 10.1002/ajmg.a.37089. Epub 2015 Apr 21.

37.

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
38.

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
39.

Validity and interexaminer reliability of a new method to quantify skin neurofibromas of neurofibromatosis 1 using paper frames.

Cunha KS, Rozza-de-Menezes RE, Andrade RM, Theos A, Luiz RR, Korf B, Geller M.

Orphanet J Rare Dis. 2014 Dec 5;9:202. doi: 10.1186/s13023-014-0202-9.

40.

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.

41.

Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a neurofibromatosis Clinical Trials Consortium phase II study.

Weiss B, Widemann BC, Wolters P, Dombi E, Vinks A, Cantor A, Perentesis J, Schorry E, Ullrich N, Gutmann DH, Tonsgard J, Viskochil D, Korf B, Packer RJ, Fisher MJ.

Neuro Oncol. 2015 Apr;17(4):596-603. doi: 10.1093/neuonc/nou235. Epub 2014 Oct 14. Erratum in: Neuro Oncol. 2015 Jun;17(6):905.

42.

Sirolimus for non-progressive NF1-associated plexiform neurofibromas: an NF clinical trials consortium phase II study.

Weiss B, Widemann BC, Wolters P, Dombi E, Vinks AA, Cantor A, Korf B, Perentesis J, Gutmann DH, Schorry E, Packer R, Fisher MJ.

Pediatr Blood Cancer. 2014 Jun;61(6):982-6.

PMID:
24851266
43.

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
44.

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.

45.

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.

46.

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.

47.

Genomic medicine: educational challenges.

Korf BR.

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

48.

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.

49.

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
50.

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.

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