Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening

por Murdock, David R., Donovan, Frank X., Chandrasekharappa, Settara C., Banks, Nicole, Bondy, Carolyn, Muenke, Maximilian, Kruszka, Paul
Publicado 2017

Regulation of Alr1 Mg Transporter Activity by Intracellular Magnesium

por Lim, Phaik Har, Pisat, Nilambari P., Gadhia, Nidhi, Pandey, Abhinav, Donovan, Frank X., Stein, Lauren, Salt, David E., Eide, David J., MacDiarmid, Colin W.
Publicado 2011

The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature

por Thompson, Ashley S., Saba, Nusrat, McReynolds, Lisa J., Munir, Saeeda, Ahmed, Parvez, Sajjad, Sumaira, Jones, Kristine, Yeager, Meredith, Donovan, Frank X., Chandrasekharappa, Settara C., Alter, Blanche P., Savage, Sharon A., Rehman, Sadia
Publicado 2021

Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype

por Asur, Rajalakshmi S., Kimble, Danielle C., Lach, Francis P., Jung, Moonjung, Donovan, Frank X., Kamat, Aparna, Noonan, Raymond J., Thomas, James W., Park, Morgan, Chines, Peter, Vlachos, Adrianna, Auerbach, Arleen D., Smogorzewska, Agata, Chandrasekharappa, Settara C.
Publicado 2017

Somatic mutational landscape of AML with inv(16) or t(8;21) identifies patterns of clonal evolution in relapse leukemia

por Sood, Raman, Hansen, Nancy F., Donovan, Frank X., Carrington, Blake, Bucci, Donna, Maskeri, Baishali, Young, Alice, Trivedi, Niraj S., Kohlschmidt, Jessica, Stone, Richard M., Caligiuri, Michael A., Chandrasekharappa, Settara C., Marcucci, Guido, Mullikin, James C., Bloomfield, Clara D., Liu, Paul
Publicado 2015

Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles

por Brodie, Seth A., Khincha, Payal P., Giri, Neelam, Bouk, Aaron J., Steinberg, Mia, Dai, Jieqiong, Jessop, Lea, Donovan, Frank X., Chandrasekharappa, Settara C., de Andrade, Kelvin C., Maric, Irina, Ellis, Steven R., Mirabello, Lisa, Alter, Blanche P., Savage, Sharon A.
Publicado 2021