Novel Compound VHL Heterozygosity (VHL T124A/L188V) Associated With Congenital Polycythaemia

Por Lorenzo, Felipe R., Yang, Chunzhang, Lanikova, Lucie, Butros, Linda, Zhuang, Zhengping, Prchal, Josef T.
Publicado em 2013

High altitude genetic adaptation in Tibetans: no role of increased hemoglobin-oxygen affinity

Por Tashi, Tsewang, Feng, Tang, Koul, Parvaiz, Amaru, Ricardo, Hussey, Dottie, Lorenzo, Felipe R., RiLi, Ge, Prchal, Josef T.
Publicado em 2014

A Novel EPAS1/HIF2A germline mutation in a Congenital Polycythemia with Paraganglioma

Por Lorenzo, Felipe R., Yang, Chunzhang, Fui, Mark Ng Tang, Vankayalapati, Hariprasad, Zhuang, Zhengping, Huynh, Thanh, Grossmann, Mathis, Pacak, Karel, Prchal, Josef T.
Publicado em 2012

Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects

Por Swierczek, Sabina, Agarwal, Archana M., Naidoo, Kubendran, Lorenzo, Felipe R., Whisenant, Jonathan, Nussenzveig, Roberto H., Agarwal, Neeraj, Coetzer, Theresa L., Prchal, Josef T.
Publicado em 2013

Ocular manifestations of HIF-2 α paraganglioma-somatostatinomapolycythemia syndrome

Por Pacak, Karel, Chew, Emily Y., Pappo, Alberto S., Yang, Chunzhang, Lorenzo, Felipe R., Wilson, Matthew W., Aronow, Mary Beth, Young, James A., Popovic, Vera, Zhuang, Zhengping
Publicado no Ophthalmology (2014)

Evolutionary history of Tibetans inferred from whole-genome sequencing

Por Hu, Hao, Petousi, Nayia, Glusman, Gustavo, Yu, Yao, Bohlender, Ryan, Tashi, Tsewang, Downie, Jonathan M., Roach, Jared C., Cole, Amy M., Lorenzo, Felipe R., Rogers, Alan R., Brunkow, Mary E., Cavalleri, Gianpiero, Hood, Leroy, Alpatty, Sama M., Prchal, Josef T., Jorde, Lynn B., Robbins, Peter A., Simonson, Tatum S., Huff, Chad D.
Publicado no PLoS Genet (2017)

A genetic mechanism for Tibetan high-altitude adaptation

Por Lorenzo, Felipe R, Huff, Chad, Myllymäki, Mikko, Olenchock, Benjamin, Swierczek, Sabina, Tashi, Tsewang, Gordeuk, Victor, Wuren, Tana, Ri-Li, Ge, McClain, Donald A, Khan, Tahsin M, Koul, Parvaiz A, Guchhait, Prasenjit, Salama, Mohamed E, Xing, Jinchuan, Semenza, Gregg L, Liberzon, Ella, Wilson, Andrew, Simonson, Tatum S, Jorde, Lynn B, Kaelin, William G, Koivunen, Peppi, Prchal, Josef T
Publicado no Nat Genet (2014)