ArelisEsther(Martir Negron)Martir-NegronMD

PubMed

• 3 citations
  Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1-Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome.
  Michael R Sargen, Jung Kim, Thomas P Potjer, Mary E Velthuizen, Arelis E Martir-Negron, Yazmin Odia, Hildur Helgadottir, Jessica N Hatton, Jeremy S Haley, Gretchen Tho...> ;JAMA Dermatology. 2023 Oct 1
• 113 citations
  Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
  Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P. Bar...> ;American Journal of Human Genetics. 2018 Jan 4
• 36 citations
  WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdel...
  Cori DeSanto, Kristin D'Aco, Gabriel C. Araujo, Nora Shannon, Ddd Study, Hilary J. Vernon, April Rahrig, Kristin G. Monaghan, Zhiyv Niu, Patrik Vitazka, Jonathan N. Do...> ;Journal of Medical Genetics. 2015 Aug 11
• 114 citations
  Prevalence and Type of BRCA Mutations in Hispanics Undergoing Genetic Cancer Risk Assessment in the Southwestern United States: A Report From the Clinical Cancer Genet...
  Jeffrey N. Weitzel, Jessica Clague, Arelis E. Martir-Negron, Raquel Ogaz, Josef Herzog, Charité Ricker, Chelsy R. Jungbluth, Cheryl Cina, Paul Duncan, Gary Unzeitig, J...> ;Journal of Clinical Oncology. 2013 Jan 10
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