Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia

por Panzer, Karin, Ekhaguere, Osayame A., Darbro, Benjamin, Cook, Jennifer, Shchelochkov, Oleg A.
Publicado 2017

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: Isolated methylmalonic acidemias (MMA)

por Manoli, Irini, Myles, Jennifer, Sloan, Jennifer L., Shchelochkov, Oleg A., Venditti, Charles P.
Publicado 2015

Case report of a pseudo‐isodicentric chromosome 9 resulting in mosaic trisomy 9

por Beaudry, Sarah M., Shchelochkov, Oleg, Trapane, Pamela, Darbro, Benjamin, Nagy, Jaime M. W.
Publicado 2021

Genetic associations with neonatal thyroid stimulating hormone levels

por Alul, Farah Y., Shchelochkov, Oleg A., Berberich, Stanton L., Murray, Jeffrey C., Ryckman, Kelli K.
Publicado 2013

Barriers to drug adherence in the treatment of urea cycle disorders: Assessment of patient, caregiver and provider perspectives

por Shchelochkov, Oleg A., Dickinson, Klara, Scharschmidt, Bruce F., Lee, Brendan, Marino, Miguel, Le Mons, Cynthia
Publicado 2016

Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National Institutes of Health Platform Vec...

por Lomash, Richa Madan, Shchelochkov, Oleg, Chandler, Randy J., Venditti, Charles P., Pariser, Anne R., Ottinger, Elizabeth A.
Publicado 2023

Association of Amino Acids with Common Complications of Prematurity

por Ryckman, Kelli K, Dagle, John M, Shchelochkov, Oleg A, Ehinger, Noah, Poole, Stanley D., Berberich, Stanton L., Reese, Jeff, Murray, Jeffrey C
Publicado 2013

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

por Shchelochkov, Oleg A, Cooper, M Lance, Ou, Zhishuo, Peacock, Sandra, Yatsenko, Svetlana A, Brown, Chester W, Fang, Ping, Stankiewicz, Pawel, Cheung, Sau Wai
Publicado 2008

Novel Frem1-Related Mouse Phenotypes and Evidence of Genetic Interactions with Gata4 and Slit3

por Beck, Tyler F., Shchelochkov, Oleg A., Yu, Zhiyin, Kim, Bum Jun, Hernández-García, Andrés, Zaveri, Hitisha P., Bishop, Colin, Overbeek, Paul A., Stockton, David W., Justice, Monica J., Scott, Daryl A.
Publicado 2013

An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions

por Kim, Bum Jun, Zaveri, Hitisha P., Shchelochkov, Oleg A., Yu, Zhiyin, Hernández-García, Andrés, Seymour, Michelle L., Oghalai, John S., Pereira, Fred A., Stockton, David W., Justice, Monica J., Lee, Brendan, Scott, Daryl A.
Publicado 2013

Chronic Kidney Disease in Propionic Acidemia

por Shchelochkov, Oleg A., Manoli, Irini, Sloan, Jennifer L., Ferry, Susan, Pass, Alexandra, Van Ryzin, Carol, Myles, Jennifer, Schoenfeld, Megan, McGuire, Peter, Rosing, Douglas R., Levin, Mark D., Kopp, Jeffrey B., Venditti, Charles P.
Publicado 2019

Severity modeling of propionic acidemia using clinical and laboratory biomarkers

por Shchelochkov, Oleg A., Manoli, Irini, Juneau, Paul, Sloan, Jennifer L., Ferry, Susan, Myles, Jennifer, Schoenfeld, Megan, Pass, Alexandra, McCoy, Samantha, Van Ryzin, Carol, Wenger, Olivia, Levin, Mark, Zein, Wadih, Huryn, Laryssa, Snow, Joseph, Chlebowski, Colby, Thurm, Audrey, Kopp, Jeffrey B., Chen, Kong Y., Venditti, Charles P.
Publicado 2021

1-(13)C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

por Manoli, Irini, Pass, Alexandra R., Harrington, Elizabeth A., Sloan, Jennifer L., Gagné, Jack, McCoy, Samantha, Bell, Sarah L., Hattenbach, Jacob D., Leitner, Brooks P., Duckworth, Courtney J., Fletcher, Laura A., Cassimatis, Thomas M., Galarreta, Carolina I., Thurm, Audrey, Snow, Joseph, Van Ryzin, Carol, Ferry, Susan, Mew, Nicholas Ah, Shchelochkov, Oleg A., Chen, Kong Y., Venditti, Charles P.
Publicado 2021

Correction to: 1-(13)C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

por Manoli, Irini, Pass, Alexandra R., Harrington, Elizabeth A., Sloan, Jennifer L., Gagné, Jack, McCoy, Samantha, Bell, Sarah L., Hattenbach, Jacob D., Leitner, Brooks P., Duckworth, Courtney J., Fletcher, Laura A., Cassimatis, Thomas M., Galarreta, Carolina I., Thurm, Audrey, Snow, Joseph, Van Ryzin, Carol, Ferry, Susan, Mew, Nicholas Ah, Shchelochkov, Oleg A., Chen, Kong Y., Venditti, Charles P.
Publicado 2021

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

por Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M
Publicado 2014