Third reported patient with RAP1B‐related syndromic thrombocytopenia and novel clinical findings

por Miller, Dana, Saeed, Azhar, Nelson, Andrew C., Bower, Matthew, Aggarwal, Anjali
Publicado 2022

Coagulopathy reversal in intracerebral haemorrhage

por Sweidan, Alexander Jacob, Singh, Navneet Kaur, Conovaloff, Joseph Luke, Bower, Matthew, Groysman, Leonid I, Shafie, Mohammad, Yu, Wengui
Publicado 2020

CLIA-certified next-generation sequencing analysis in the cloud

por Zhang, Ying, Erdmann, Jesse, Chilton, John, Onsongo, Getiria, Bower, Matthew, Beckman, Kenny, Thyagarajan, Bharat, Silverstein, Kevin, Lamblin, Anne-Francoise
Publicado 2012

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

por Westenfield, Kristen, Sarafoglou, Kyriakie, Speltz, Laura C., Pierpont, Elizabeth I., Steyermark, Joan, Nascene, David, Bower, Matthew, Pierpont, Mary Ella
Publicado 2018

Case Report: Early-Onset Behavioral Variant Frontotemporal Dementia in Patient With Retrotransposed Full-Length Transcript of Matrin-3 Variant 5

por Castro, Madelyn, Venkateswaran, Nisha, Peters, Samuel T., Deyle, David R., Bower, Matthew, Koob, Michael D., Boeve, Bradley F., Vossel, Keith
Publicado 2020

Refractory Central Neurogenic Hyperventilation: A Novel Approach Utilizing Mechanical Dead Space

por Sweidan, Alexander J., Bower, Matthew M., Paullus, Jeffrey, Sterpi, Michelle, Stern-Nezer, Sara, Dastur, Cyrus, Yu, Wengui, Groysman, Leonid I.
Publicado 2019

The Effects of Absorbing Materials on the Homogeneity of Composite Heating by Microwave Radiation

por Nuhiji, Betime, Bower, Matthew P., Proud, William A. E., Burpo, Steven J., Day, Richard J., Scaife, Richard J., Swait, Timothy
Publicado 2021

A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex

por Tryon, Rebecca K., Tolar, Jakub, Preusser, Sarah M., Riddle, Megan J., Keene, Douglas R., Bower, Matthew, Thyagarajan, Bharat, Ebens, Christen L.
Publicado 2019

Comparative Studies of Cerebral Reperfusion Injury in the Posterior and Anterior Circulations After Mechanical Thrombectomy

por Bower, Matthew M., Suzuki, Shuichi, Golshani, Kiarash, Lin, Li-Mei, Shafie, Mohammad, Abcede, Hermelinda G., Shah, Jay, Stradling, Dana, Yu, Wengui
Publicado 2022

Expansion of the Spinocerebellar Ataxia Type 10 (SCA10) Repeat in a Patient with Sioux Native American Ancestry

por Bushara, Khalaf, Bower, Matthew, Liu, Jilin, McFarland, Karen N., Landrian, Ivette, Hutter, Diane, Teive, Hélio A. G., Rasmussen, Astrid, Mulligan, Connie J., Ashizawa, Tetsuo
Publicado 2013

Implementation of Cloud based Next Generation Sequencing data analysis in a clinical laboratory

por Onsongo, Getiria, Erdmann, Jesse, Spears, Michael D, Chilton, John, Beckman, Kenneth B, Hauge, Adam, Yohe, Sophia, Schomaker, Matthew, Bower, Matthew, Silverstein, Kevin A T, Thyagarajan, Bharat
Publicado 2014

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

por Salter, Claire G., Beijer, Danique, Hardy, Holly, Barwick, Katy E.S., Bower, Matthew, Mademan, Ines, De Jonghe, Peter, Deconinck, Tine, Russell, Mark A., McEntagart, Meriel M., Chioza, Barry A., Blakely, Randy D., Chilton, John K., De Bleecker, Jan, Baets, Jonathan, Baple, Emma L., Walk, David, Crosby, Andrew H.
Publicado 2018

Next generation sequencing for clinical diagnostics: Five year experience of an academic laboratory

por Hartman, Paige, Beckman, Kenneth, Silverstein, Kevin, Yohe, Sophia, Schomaker, Matthew, Henzler, Christine, Onsongo, Getiria, Lam, Ham Ching, Munro, Sarah, Daniel, Jerry, Billstein, Bradley, Deshpande, Archana, Hauge, Adam, Mroz, Pawel, Lee, Whiwon, Holle, Jennifer, Wiens, Katie, Karnuth, Kylene, Kemmer, Teresa, Leary, Michaela, Michel, Stephen, Pohlman, Laurie, Thayanithy, Venugopal, Nelson, Andrew, Bower, Matthew, Thyagarajan, Bharat
Publicado 2019

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

por Peng, Yanyan, Shinde, Deepali N, Valencia, C Alexander, Mo, Jun-Song, Rosenfeld, Jill, Truitt Cho, Megan, Chamberlin, Adam, Li, Zhuo, Liu, Jie, Gui, Baoheng, Brockhage, Rachel, Basinger, Alice, Alvarez-Leon, Brenda, Heydemann, Peter, Magoulas, Pilar L, Lewis, Andrea M, Scaglia, Fernando, Gril, Solange, Chong, Shuk Ching, Bower, Matthew, Monaghan, Kristin G, Willaert, Rebecca, Plona, Maria-Renee, Dineen, Rich, Milan, Francisca, Hoganson, George, Powis, Zoe, Helbig, Katherine L, Keller-Ramey, Jennifer, Harris, Belinda, Anderson, Laura C, Green, Torrian, Sukoff Rizzo, Stacey J, Kaylor, Julie, Chen, Jiani, Guan, Min-Xin, Sellars, Elizabeth, Sparagana, Steven P, Gibson, James B, Reinholdt, Laura G, Tang, Sha, Huang, Taosheng
Publicado 2017