Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B

ανά Li, Dong, Bupp, Caleb, March, Michael E, Hakonarson, Hakon, Levine, Michael A
Τόπος έκδοσης J Clin Endocrinol Metab (2020)

Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis

ανά Savage, Lane, Adams, Stacie D., James, Kiely, Chowdhury, Shimul, Rajasekaran, Surender, Prokop, Jeremy W., Bupp, Caleb
Τόπος έκδοσης Cold Spring Harb Mol Case Stud (2020)

SARS-CoV-2 infection: molecular mechanisms of severe outcomes to suggest therapeutics

ανά Hartog, Nicholas, Faber, William, Frisch, Austin, Bauss, Jacob, Bupp, Caleb P, Rajasekaran, Surender, Prokop, Jeremy W
Τόπος έκδοσης Expert Rev Proteomics (2021)

Genome sequencing in the clinic: the past, present, and future of genomic medicine

ανά Prokop, Jeremy W., May, Thomas, Strong, Kim, Bilinovich, Stephanie M., Bupp, Caleb, Rajasekaran, Surender, Worthey, Elizabeth A., Lazar, Jozef
Τόπος έκδοσης Physiol Genomics (2018)

NAA10 variant in 38-week-gestation male patient: a case study

ανά Afrin, Antara, Prokop, Jeremy W., Underwood, Adam, Uhl, Katie L., VanSickle, Elizabeth A., Baruwal, Roja, Wajda, Morgan, Rajasekaran, Surender, Bupp, Caleb
Τόπος έκδοσης Cold Spring Harb Mol Case Stud (2020)

Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects

ανά Spellicy, Catherine J., Norris, Joy, Bend, Renee, Bupp, Caleb, Mester, Paul, Reynolds, Tracy, Dean, Jane, Peng, Yunhui, Alexov, Emil, Schwartz, Charles E., Stevenson, Roger S., J. Friez, Michael
Τόπος έκδοσης Eur J Hum Genet (2018)

Emerging Role of ODC1 in Neurodevelopmental Disorders and Brain Development

ανά Prokop, Jeremy W., Bupp, Caleb P., Frisch, Austin, Bilinovich, Stephanie M., Campbell, Daniel B., Vogt, Daniel, Schultz, Chad R., Uhl, Katie L., VanSickle, Elizabeth, Rajasekaran, Surender, Bachmann, André S.
Τόπος έκδοσης Genes (Basel) (2021)

Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease

ανά Rajasekaran, Surender, Bupp, Caleb P, Leimanis-Laurens, Mara, Shukla, Ankit, Russell, Christopher, Junewick, Joseph, Gleason, Emily, VanSickle, Elizabeth A, Edgerly, Yvonne, Wittmann, Bryan M, Prokop, Jeremy W, Bachmann, André S
Τόπος έκδοσης eLife (2021)

Balancing precision versus cohort transcriptomic analysis of acute and recovery phase of viral bronchiolitis

ανά Gupta, Ruchir, Leimanis, Mara L., Adams, Marie, Bachmann, André S., Uhl, Katie L., Bupp, Caleb P., Hartog, Nicholas L., Kort, Eric J., Olivero, Rosemary, Comstock, Sarah S., Sanfilippo, Dominic J., Lunt, Sophia Y., Prokop, Jeremy W., Rajasekaran, Surender
Τόπος έκδοσης Am J Physiol Lung Cell Mol Physiol (2021)

Genomic, Transcriptomic, and Protein Landscape Profile of CFTR and Cystic Fibrosis

ανά Sanders, Morgan, Lawlor, James M.J., Li, Xiaopeng, Schuen, John N, Millard, Susan L, Zhang, Xi, Buck, Leah, Grysko, Bethany, Uhl, Katie L, Hinds, David, Stenger, Cynthia L, Morris, Michele, Lamb, Neil, Levy, Hara, Bupp, Caleb, Prokop, Jeremy W.
Τόπος έκδοσης Hum Genet (2020)

SARS-CoV2 (COVID-19) Structural/Evolution Dynamicome: Insights into functional evolution and human genomics

ανά Gupta, Ruchir, Charron, Jacob, Stenger, Cynthia L, Painter, Jared, Steward, Hunter, Cook, Taylor W, Faber, William, Frisch, Austin, Lind, Eric, Bauss, Jacob, Li, Xiaopeng, Sirpilla, Olivia, Soehnlen, Xavier, Underwood, Adam, Hinds, David, Morris, Michele, Lamb, Neil, Carcillo, Joseph A, Bupp, Caleb, Uhal, Bruce D, Rajasekaran, Surender, Prokop, Jeremy W
Τόπος έκδοσης bioRxiv (2020)

SARS-CoV-2 (COVID-19) structural and evolutionary dynamicome: Insights into functional evolution and human genomics

ανά Gupta, Ruchir, Charron, Jacob, Stenger, Cynthia L., Painter, Jared, Steward, Hunter, Cook, Taylor W., Faber, William, Frisch, Austin, Lind, Eric, Bauss, Jacob, Li, Xiaopeng, Sirpilla, Olivia, Soehnlen, Xavier, Underwood, Adam, Hinds, David, Morris, Michele, Lamb, Neil, Carcillo, Joseph A., Bupp, Caleb, Uhal, Bruce D., Rajasekaran, Surender, Prokop, Jeremy W.
Τόπος έκδοσης J Biol Chem (2020)

De Novo Missense Variants in PPP1CB Are Associated with Intellectual Disabilities and Congenital Heart Disease

ανά Ma, Lijiang, Bayram, Yavuz, McLaughlin, Heather M, Cho, Megan T, Krokosky, Alyson, Turner, Clesson E, Lindstrom, Kristin, Bupp, Caleb, Mayberry, Katey, Mu, Weiyi, Bodurtha, Joann, Weinstein, Veronique, Zadeh, Neda, Alcaraz, Wendy, Powis, Zöe, Shao, Yunru, Scott, Daryl A, Lewis, Andrea M, White, Janson J, Jhangiani, Shalani N, Gulec, Elif Yilmaz, Lalani, Seema R, Lupski, James R, Retterer, Kyle, Schnur, Rhonda E, Wentzensen, Ingrid, Bale, Sherri, Chung, Wendy K
Τόπος έκδοσης Hum Genet (2016)

High-Density Blood Transcriptomics Reveals Precision Immune Signatures of SARS-CoV-2 Infection in Hospitalized Individuals

ανά Prokop, Jeremy W., Hartog, Nicholas L., Chesla, Dave, Faber, William, Love, Chanise P., Karam, Rachid, Abualkheir, Nelly, Feldmann, Benjamin, Teng, Li, McBride, Tamara, Leimanis, Mara L., English, B. Keith, Holsworth, Amanda, Frisch, Austin, Bauss, Jacob, Kalpage, Nathisha, Derbedrossian, Aram, Pinti, Ryan M., Hale, Nicole, Mills, Joshua, Eby, Alexandra, VanSickle, Elizabeth A., Pageau, Spencer C., Shankar, Rama, Chen, Bin, Carcillo, Joseph A., Sanfilippo, Dominic, Olivero, Rosemary, Bupp, Caleb P., Rajasekaran, Surender
Τόπος έκδοσης Front Immunol (2021)

Virus-induced genetics revealed by multidimensional precision medicine transcriptional workflow applicable to COVID-19

ανά Prokop, Jeremy W., Shankar, Rama, Gupta, Ruchir, Leimanis, Mara L., Nedveck, Derek, Uhl, Katie, Chen, Bin, Hartog, Nicholas L., Van Veen, Jason, Sisco, Joshua S., Sirpilla, Olivia, Lydic, Todd, Boville, Brian, Hernandez, Angel, Braunreiter, Chi, Kuk, ChiuYing Cynthia, Singh, Varinder, Mills, Joshua, Wegener, Marc, Adams, Marie, Rhodes, Mary, Bachmann, Andre S., Pan, Wenjing, Byrne-Steele, Miranda L., Smith, D. Casey, Depinet, Mollye, Brown, Brittany E., Eisenhower, Mary, Han, Jian, Haw, Marcus, Madura, Casey, Sanfilippo, Dominic J., Seaver, Laurie H., Bupp, Caleb, Rajasekaran, Surender
Τόπος έκδοσης Physiol Genomics (2020)

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

ανά Muir, Alison M., Gardner, Jennifer F., van Jaarsveld, Richard H., de Lange, Iris M., van der Smagt, Jasper J., Wilson, Golder N., Dubbs, Holly, Goldberg, Ethan M., Zitano, Lia, Bupp, Caleb, Martinez, Jose, Srour, Myriam, Accogli, Andrea, Alhakeem, Afnan, Meltzer, Meira, Gropman, Andrea, Brewer, Carole, Caswell, Richard C., Montgomery, Tara, McKenna, Caoimhe, McKee, Shane, Powell, Corinna, Vasudevan, Pradeep C., Brady, Angela F., Joss, Shelagh, Tysoe, Carolyn, Noh, Grace, Tarnopolsky, Mark, Brady, Lauren, Zafar, Muhammad, Schrier Vergano, Samantha A., Murray, Brianna, Sawyer, Lindsey, Hainline, Bryan E., Sapp, Katherine, DeMarzo, Danielle, Huismann, Darcy J., Wentzensen, Ingrid M., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rhodes, Lindsay, Dobyns, William B., Lecoquierre, Francois, Goldenberg, Alice, Polster, Tilman, Axer-Schaefer, Susanne, Platzer, Konrad, Klöckner, Chiara, Hoffman, Trevor L., MacArthur, Daniel G., O’Leary, Melanie C., VanNoy, Grace E., England, Eleina, Varghese, Vinod C., Mefford, Heather C.
Τόπος έκδοσης Genet Med (2021)

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

ανά Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M., Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P., Callewaert, Bert L., Cereda, Anna, Cousin, Margot A., Del Rey Jimenez, Juan C., Demmer, Laurie, Dsouza, Nikita R., Fleischer, Nicole, Gavrilova, Ralitza H., Ghate, Sumedha, Graf, Elisabeth, Green, Andrew, Green, Sarah R., Iascone, Maria, Kdissa, Ameni, Klee, Dirk, Klee, Eric W., Lancaster, Emily, Lindstrom, Kristin, Mayr, Johannes A., McEntagart, Meriel, Meeks, Naomi J. L., Mittag, Dana, Moore, Harrison, Olsen, Anne K., Ortiz, Damara, Parsons, Gretchen, Pena, Loren D. M., Person, Richard E., Punj, Sumit, Ramos-Rivera, Gonzalo Alonso, Sacoto, Maria J. Guillen, Bradley Schaefer, G., Schnur, Rhonda E., Scott, Tiana M., Scott, Daryl A., Serbinski, Carolyn R., Shashi, Vandana, Siu, Victoria M., Stadheim, Barbro Fossøy, Sullivan, Jennifer A., Švantnerová, Jana, Velsher, Lea, Wargowski, David S., Wentzensen, Ingrid M., Wieczorek, Dagmar, Winkelmann, Juliane, Yap, Patrick, Zech, Michael, Zimmermann, Michael T., Meitinger, Thomas, Distelmaier, Felix, Wagner, Matias
Τόπος έκδοσης Genet Med (2020)