• Mutation; HGNC; HGNC:7765; NF1; Simple; p.Ile679Aspfs*21 (c.2033dupC); ClinVar=VCV000141513; Zygosity=Unspecified (PubMed=26214590).
  

PubMed=21521745; DOI=10.1158/1541-7786.MCR-10-0512; PMCID=PMC3117976
Tworkoski K., Singhal G., Szpakowski S., Zito C.I., Bacchiocchi A., Muthusamy V., Bosenberg M.W., Krauthammer M., Halaban R., Stern D.F.
Phosphoproteomic screen identifies potential therapeutic targets in melanoma.
Mol. Cancer Res. 9:801-812(2011)

PubMed=21543894; DOI=10.4161/cc.10.11.15777; PMCID=PMC3233487
Chan E., Patel R., Nallur S., Ratner E., Bacchiocchi A., Hoyt K., Szpakowski S., Godshalk S., Ariyan S., Sznol M., Halaban R., Krauthammer M., Tuck D., Slack F.J., Weidhaas J.B.
MicroRNA signatures differentiate melanoma subtypes.
Cell Cycle 10:1845-1852(2011)

PubMed=21569352; DOI=10.1186/1471-2164-12-230; PMCID=PMC3114747
Parisi F., Ariyan S., Narayan D., Bacchiocchi A., Hoyt K., Cheng E., Xu F., Li P.-N., Halaban R., Kluger Y.
Detecting copy number status and uncovering subclonal markers in heterogeneous tumor biopsies.
BMC Genomics 12:230.1-230.14(2011)

PubMed=23012583; PMCID=PMC3447199
Parisi F., Micsinai M., Strino F., Ariyan S., Narayan D., Bacchiocchi A., Cheng E., Xu F., Li P.-N., Kluger H.M., Halaban R., Kluger Y.
Integrated analysis of tumor samples sheds light on tumor heterogeneity.
Yale J. Biol. Med. 85:347-361(2012)

PubMed=26214590; DOI=10.1038/ng.3361; PMCID=PMC4916843
Krauthammer M., Kong Y., Bacchiocchi A., Evans P., Pornputtapong N., Wu C., McCusker J.P., Ma S.-G., Cheng E., Straub R., Serin M., Bosenberg M.W., Ariyan S., Narayan D., Sznol M., Kluger H.M., Mane S.M., Schlessinger J., Lifton R.P., Halaban R.
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.
Nat. Genet. 47:996-1002(2015)