Pathogenic BCL11A variants provide insights into the mechanisms of human fetal hemoglobin silencing.

por Yong Shen, Rick Li, Kristian Teichert, Kara E Montbleau, Jeffrey M Verboon, Richard A Voit, Vijay G Sankaran
Publicado 2021

A NOVEL MISSENSE MUTATION OUTSIDE DNAJ DOMAIN OF DNAJC21 IS ASSOCIATED WITH SHWACHMAN-DIAMOND SYNDROME

por Mohammad Bilal Alsavaf, Fatma Zehra Okus, Alper Ozcan, Ekrem Unal, Jeffrey M. Verboon, Vijay G. Sankaran, Muhammed E. Dogan, Munis Dundar, Zehra Busra Azizoglu, Ahmet Eken, Hamiyet Donmez Altıuntas
Publicado 2021

A unified model of human hemoglobin switching through single-cell genome editing

por Yong Shen, Jeffrey M. Verboon, Yuannyu Zhang, Nan Liu, Yoon Jung Kim, Samantha Marglous, Satish K. Nandakumar, Richard A. Voit, Claudia Fiorini, Ayesha Ejaz, Anindita Basak, Stuart H. Orkin, Jian Xu, Vijay G. Sankaran
Publicado 2021

The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6

por Yu Fukuda, Pak Leng Cheong, John Lynch, Cheryl Brighton, Sharon Frase, Vasileios Kargas, Evadnie Rampersaud, Yao Wang, Vijay G. Sankaran, Bing Yu, Paul A. Ney, Mitchell J. Weiss, Peter Vogel, Peter J. Bond, Robert C. Ford, Ronald J. Trent, John D. Schuetz
Publicado 2016