S. Camacho

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Yiran Guo, Dong Li, Hakon Hakonarson, 2013, American journal of human genetics.

Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts.

V. Schramm, S. Mehta, J. Martignetti, 2012, American journal of human genetics.

Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.

Rui Zhang, R. DeFronzo, J. Martignetti, 2013, American journal of human genetics.

Genomic Analysis of Uterine Lavage Fluid Detects Early Endometrial Cancers and Reveals a Prevalent Landscape of Driver Mutations in Women without Histopathologic Evidence of Cancer: A Prospective Cross-Sectional Study

B. Reva, R. Sebra, T. Harkins, 2016, PLoS medicine.

Inhibition of the Nuclear Export Receptor XPO1 as a Therapeutic Target for Platinum-Resistant Ovarian Cancer

Richard L. Halpert, R. Sebra, Rileen Sinha, 2016, Clinical Cancer Research.

The Impact of Simvastatin on Pulmonary Effectors of Pseudomonas aeruginosa Infection

J. Martignetti, F. O'Gara, C. Adams, 2014, PloS one.

Shaking the family tree: identification of novel and biologically active alternatively spliced isoforms across the KLF family of transcription factors

J. Martignetti, O. Camacho-Vanegas, Jacob E. Till, 2013, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Rapid development and use of patient-specific ctDNA biomarkers to avoid a “rash decision” in an ovarian cancer patient

P. Dottino, J. Martignetti, L. Yoxtheimer, 2019, Cold Spring Harbor molecular case studies.

Mutation profiling of uterine lavage fluid detects early-stage endometrial cancers and discovers a prevalent landscape of driver mutations in women without cancer

B. Reva, R. Sebra, T. Harkins, 2017 .

Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.

Rui Zhang, R. DeFronzo, J. Martignetti, 2013, American journal of human genetics.