Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption

Por Mahadeo, Kris, Diop-Bove, Ndeye, Shin, Daniel, Unal, Ersin Selcuk, Teo, Juliana, Zhao, Rongbao, Chang, Min-Hwang, Fulterer, Andreas, Romero, Michael F., Goldman, I. David
Publicado em 2010

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

Por Riley, Lisa G., Rudinger-Thirion, Joëlle, Schmitz-Abe, Klaus, Thorburn, David R., Davis, Ryan L., Teo, Juliana, Arbuckle, Susan, Cooper, Sandra T., Campagna, Dean R., Frugier, Magali, Markianos, Kyriacos, Sue, Carolyn M., Fleming, Mark D., Christodoulou, John
Publicado no JIMD Rep (2015)

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1

Por Guo, Yiran, Kartawinata, Melissa, Li, Jiankang, Pickett, Hilda A., Teo, Juliana, Kilo, Tatjana, Barbaro, Pasquale M., Keating, Brendan, Chen, Yulan, Tian, Lifeng, Al-Odaib, Ahmad, Reddel, Roger R., Christodoulou, John, Xu, Xun, Hakonarson, Hakon, Bryan, Tracy M.
Publicado em 2014

A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

Por Roy, Noémi B. A., Wilson, Edward A., Henderson, Shirley, Wray, Katherine, Babbs, Christian, Okoli, Steven, Atoyebi, Wale, Mixon, Avery, Cahill, Mary R., Carey, Peter, Cullis, Jonathan, Curtin, Julie, Dreau, Helene, Ferguson, David J. P., Gibson, Brenda, Hall, Georgina, Mason, Joanne, Morgan, Mary, Proven, Melanie, Qureshi, Amrana, Sanchez Garcia, Joaquin, Sirachainan, Nongnuch, Teo, Juliana, Tedgård, Ulf, Higgs, Doug, Roberts, David, Roberts, Irene, Schuh, Anna
Publicado no Br J Haematol (2016)