Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics

por Cook, Taylor W., Wilstermann, Amy M., Mitchell, Jackson T., Arnold, Nicholas E., Rajasekaran, Surender, Bupp, Caleb P., Prokop, Jeremy W.
Publicado 2023

Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report

por Aniol, Claudia V., Prokop, Jeremy W., Rajasekaran, Surender, Pageau, Spencer, Elizer, Sydney K., VanSickle, Elizabeth A., Bupp, Caleb P.
Publicado 2023

Healthcare Professionals’ Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care

por Franck, Linda S., Scheurer-Monaghan, Andrea, Bupp, Caleb P., Fakhoury, Joseph D., Hoffmann, Thomas J., Deshpandey, Manasi, Arenchild, Madison, Dimmock, David P.
Publicado 2022

Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome

por VanSickle, Elizabeth A., Michael, Julianne, Bachmann, André S., Rajasekaran, Surender, Prokop, Jeremy W., Kuzniecky, Ruben, Hofstede, Floris C., Steindl, Katharina, Rauch, Anita, Lipson, Mark H., Bupp, Caleb P.
Publicado 2021

Emerging Role of ODC1 in Neurodevelopmental Disorders and Brain Development

por 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.
Publicado 2021

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

por 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
Publicado 2021

Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders

por Michael, Julianne, VanSickle, Elizabeth, Vipond, Marlie, Dalman, Abby, Prokop, Jeremy, Schwartz, Charles E., Rajasekaran, Surender, Bachmann, André S., Barth, Magalie, Prouteau, Clément, Almagor, Yotam, Berkun, Lina, Alterescu, Gheona, Bupp, Caleb P.
Publicado 2023

The complex, dynamic SpliceOme of the small GTPase transcripts altered by technique, sex, genetics, tissue specificity, and RNA base editing

por Das, Akansha S., Sherry, Emily C., Vaughan, Robert M., Henderson, Marian L., Zieba, Jacob, Uhl, Katie L., Koehn, Olivia, Bupp, Caleb P., Rajasekaran, Surender, Li, Xiaopeng, Chhetri, Surya B., Nissim, Sahar, Williams, Carol L., Prokop, Jeremy W.
Publicado 2022

Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding

por Mark, Paul R., Murray, Stephen A., Yang, Tao, Eby, Alexandra, Lai, Angela, Lu, Di, Zieba, Jacob, Rajasekaran, Surender, VanSickle, Elizabeth A., Rossetti, Linda Z., Guidugli, Lucia, Watkins, Kelly, Wright, Meredith S., Bupp, Caleb P., Prokop, Jeremy W.
Publicado 2022

Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan’s Project Baby Deer

por Bupp, Caleb P., Ames, Elizabeth G., Arenchild, Madison K., Caylor, Sara, Dimmock, David P., Fakhoury, Joseph D., Karna, Padmani, Lehman, April, Meghea, Cristian I., Misra, Vinod, Nolan, Danielle A., O’Shea, Jessica, Sharangpani, Aditi, Franck, Linda S., Scheurer-Monaghan, Andrea
Publicado 2023

CCR5 and Biological Complexity: The Need for Data Integration and Educational Materials to Address Genetic/Biological Reductionism at the Interface of Ethical, Legal, and Social Im...

por Bauss, Jacob, Morris, Michele, Shankar, Rama, Olivero, Rosemary, Buck, Leah N., Stenger, Cynthia L., Hinds, David, Mills, Joshua, Eby, Alexandra, Zagorski, Joseph W., Smith, Caitlin, Cline, Sara, Hartog, Nicholas L., Chen, Bin, Huss, John, Carcillo, Joseph A., Rajasekaran, Surender, Bupp, Caleb P., Prokop, Jeremy W.
Publicado 2021

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

por 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
Publicado 2021

Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships

por Underwood, Adam, Rasicci, Daniel T, Hinds, David, Mitchell, Jackson T, Zieba, Jacob K, Mills, Joshua, Arnold, Nicholas E, Cook, Taylor W, Moustaqil, Mehdi, Gambin, Yann, Sierecki, Emma, Fontaine, Frank, Vanderweele, Sophie, Das, Akansha S, Cvammen, William, Sirpilla, Olivia, Soehnlen, Xavier, Bricker, Kristen, Alokaili, Maram, Green, Morgan, Heeringa, Sadie, Wilstermann, Amy M, Freeland, Thomas M., Qutob, Dinah, Milsted, Amy, Jauch, Ralf, Triche, Timothy J, Krawczyk, Connie M, Bupp, Caleb P, Rajasekaran, Surender, Francois, Mathias, Prokop, Jeremy W.
Publicado 2023

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

por 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
Publicado 2020

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

por McKnight, Dianalee, Morales, Ana, Hatchell, Kathryn E., Bristow, Sara L., Bonkowsky, Joshua L., Perry, Michael Scott, Berg, Anne T., Borlot, Felippe, Esplin, Edward D., Moretz, Chad, Angione, Katie, Ríos-Pohl, Loreto, Nussbaum, Robert L., Aradhya, Swaroop, Haldeman-Englert, Chad R., Levy, Rebecca J., Parachuri, Venu G., Lay-Son, Guillermo, de Montellano, David J. Dávila-Ortiz, Ramirez-Garcia, Miguel Angel, Benítez Alonso, Edmar O., Ziobro, Julie, Chirita-Emandi, Adela, Felix, Temis M., Kulasa-Luke, Dianne, Megarbane, Andre, Karkare, Shefali, Chagnon, Sarah L., Humberson, Jennifer B., Assaf, Melissa J., Silva, Sebastian, Zarroli, Katherine, Boyarchuk, Oksana, Nelson, Gary R., Palmquist, Rachel, Hammond, Katherine C., Hwang, Sean T., Boutlier, Susan B., Nolan, Melinda, Batley, Kaitlin Y., Chavda, Devraj, Reyes-Silva, Carlos Alberto, Miroshnikov, Oleksandr, Zuccarelli, Britton, Amlie-Wolf, Louise, Wheless, James W., Seinfeld, Syndi, Kanhangad, Manoj, Freeman, Jeremy L., Monroy-Santoyo, Susana, Rodriguez-Vazquez, Natalia, Ryan, Monique M., Machie, Michelle, Guerra, Patricio, Hassan, Muhammad Jawad, Candee, Meghan S., Bupp, Caleb P., Park, Kristen L., Muller, Eric, Lupo, Pamela, Pedersen, Robert C., Arain, Amir M., Murphy, Andrea, Schatz, Krista, Mu, Weiyi, Kalika, Paige M., Plaza, Lautaro, Kellogg, Marissa A., Lora, Evelyn G., Carson, Robert P., Svystilnyk, Victoria, Venegas, Viviana, Luke, Rebecca R., Jiang, Huiyuan, Stetsenko, Tetiana, Dueñas-Roque, Milagros M., Trasmonte, Joseph, Burke, Rebecca J., Hurst, Anna C.E., Smith, Douglas M., Massingham, Lauren J., Pisani, Laura, Costin, Carrie E., Ostrander, Betsy, Filloux, Francis M., Ananth, Amitha L., Mohamed, Ismail S., Nechai, Alla, Dao, Jasmin M., Fahey, Michael C., Aliu, Ermal, Falchek, Stephen, Press, Craig A., Treat, Lauren, Eschbach, Krista, Starks, Angela, Kammeyer, Ryan, Bear, Joshua J., Jacobson, Mona, Chernuha, Veronika, Meibos, Bailey, Wong, Kristen, Sweney, Matthew T., Espinoza, A. Chris, Van Orman, Colin B., Weinstock, Arie, Kumar, Ashutosh, Soler-Alfonso, Claudia, Nolan, Danielle A., Raza, Muhammad, Rojas Carrion, Miguel David, Chari, Geetha, Marsh, Eric D., Shiloh-Malawsky, Yael, Parikh, Sumit, Gonzalez-Giraldo, Ernesto, Fulton, Stephen, Sogawa, Yoshimi, Burns, Kaitlyn, Malets, Myroslava, Montiel Blanco, Johnny David, Habela, Christa W., Wilson, Carey A., Guzmán, Guillermo G., Pavliuk, Mariia
Publicado 2022