The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification

Tekijä Ducich, Nicole, Ah Mew, Nicholas, Bedoyan, Jirair K.
Julkaisussa Mol Genet Metab Rep (2020)

A novel DICER1 mutation causes multi-nodular goiter in children

Tekijä Darrat, Ilaaf, Bedoyan, Jirair K., Chen, Ming, Schuette, Jane L., Lesperance, Marci M.
Julkaistu 2013

Enzymatic Testing Sensitivity, Variability and Practical Diagnostic Algorithm for Pyruvate Dehydrogenase Complex (PDC) Deficiency

Tekijä Shin, Ha Kyung, Grahame, George, McCandless, Shawn E., Kerr, Douglas S., Bedoyan, Jirair K.
Julkaisussa Mol Genet Metab (2017)

Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency

Tekijä Quinonez, Shane C., Leber, Steven M., Martin, Donna M., Thoene, Jess G., Bedoyan, Jirair K.
Julkaisussa Pediatr Neurol (2013)

Age‐related effect of serotonin transporter genotype on amygdala and prefrontal cortex function in adolescence

Tekijä Wiggins, Jillian Lee, Bedoyan, Jirair K., Carrasco, Melisa, Swartz, Johnna R., Martin, Donna M., Monk, Christopher S.
Julkaistu 2012

A Complex 6p25 Rearrangement in a Child With Multiple Epiphyseal Dysplasia

Tekijä Bedoyan, Jirair K., Lesperance, Marci M., Ackley, Todd, Iyer, Ramaswamy K., Innis, Jeffrey W., Misra, Vinod K.
Julkaisussa Am J Med Genet A (2010)

Duplication 16p11.2 in a Child with Infantile Seizure Disorder

Tekijä Bedoyan, Jirair K., Kumar, Ravinesh A., Sudi, Jyotsna, Silverstein, Faye, Ackley, Todd, Iyer, Ramaswamy K., Christian, Susan L., Martin, Donna M.
Julkaistu 2010

The impact of serotonin transporter genotype on default network connectivity in children and adolescents with autism spectrum disorders()

Tekijä Wiggins, Jillian Lee, Peltier, Scott J., Bedoyan, Jirair K., Carrasco, Melisa, Welsh, Robert C., Martin, Donna M., Lord, Catherine, Monk, Christopher S.
Julkaistu 2012

Microarray oligonucleotide probe designer (MOPeD): A web service

Tekijä Patel, Viren C, Mondal, Kajari, Shetty, Amol Carl, Horner, Vanessa L, Bedoyan, Jirair K, Martin, Donna, Caspary, Tamara, Cutler, David J, Zwick, Michael E
Julkaistu 2010

The Impact of Serotonin Transporter (5-HTTLPR) Genotype on the Development of Resting-State Functional Connectivity in Children and Adolescents: A Preliminary Report

Tekijä Wiggins, Jillian Lee, Bedoyan, Jirair K., Peltier, Scott J., Ashinoff, Samantha, Carrasco, Melisa, Weng, Shih-Jen, Welsh, Robert C., Martin, Donna M., Monk, Christopher S.
Julkaistu 2011

Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant

Tekijä Hannah, William B., Dempsey, Katherine J., Schillaci, Lori-Anne P., Zacharias, Michael, McCandless, Shawn E., Wynshaw-Boris, Anthony, Konczal, Laura L., Bedoyan, Jirair K.
Julkaisussa Mol Genet Metab Rep (2019)

Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency

Tekijä Deeb, Kristin K., Bedoyan, Jirair K., Wang, Raymond, Sremba, Leighann, Schroeder, Molly C., Grahame, George J., Boyer, Monica, McCandless, Shawn E., Kerr, Douglas S., Zhang, Shulin
Julkaisussa Mol Genet Metab Rep (2014)

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

Tekijä Bedoyan, Jirair K., Yang, Samuel P., Ferdinandusse, Sacha, Jack, Rhona M., Miron, Alexander, Grahame, George, DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Wanders, Ronald J. A.
Julkaisussa Mol Genet Metab (2017)

Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion

Tekijä Huang, Xiaoping, Bedoyan, Jirair K., Demirbas, Didem, Harris, David J., Miron, Alexander, Edelheit, Simone, Grahame, George, DeBrosse, Suzanne D., Wong, Lee-Jun, Hoppel, Charles L., Kerr, Douglas S., Anselm, Irina, Berry, Gerard T.
Julkaisussa Mol Genet Metab (2016)

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

Tekijä Bedoyan, Jirair K., Hecht, Leah, Zhang, Shulin, Tarrant, Stacey, Bergin, Ann, Demirbas, Didem, Yang, Edward, Shin, Ha Kyung, Grahame, George J., DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Berry, Gerard T.
Julkaisussa JIMD Rep (2019)

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and...

Tekijä Bedoyan, Jirair K., Hage, Rosemary, Shin, Ha Kyung, Linard, Sharon, Ferren, Edwin, Ducich, Nicole, Wilson, Kirkland, Lehman, April, Schillaci, Lori‐Anne, Manickam, Kandamurugu, Mori, Mari, Bartholomew, Dennis, DeBrosse, Suzanne, Cohen, Bruce, Parikh, Sumit, Kerr, Douglas
Julkaisussa JIMD Rep (2020)

A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease

Tekijä Zeiad, Rawah K H M, Ferren, Edwin C, Young, Denise D, De Lancy, Shanelle J, Dedousis, Demitrios, Schillaci, Lori-Anne, Redline, Raymond W, Saab, Shahrazad T, Crespo, Maricruz, Bhatti, Tricia R, Ackermann, Amanda M, Bedoyan, Jirair K, Wood, Jamie R
Julkaisussa J Endocr Soc (2021)

Impact of diagnosis and therapy on cognitive function in urea cycle disorders

Tekijä Posset, Roland, Gropman, Andrea L., Nagamani, Sandesh C.S., Burrage, Lindsay C., Bedoyan, Jirair K., Wong, Derek, Berry, Gerard T., Baumgartner, Matthias R., Yudkoff, Marc, Zielonka, Matthias, Hoffmann, Georg F., Burgard, Peter, Schulze, Andreas, McCandless, Shawn E., Garcia-Cazorla, Angeles, Seminara, Jennifer, Garbade, Sven F., Kölker, Stefan
Julkaisussa Ann Neurol (2019)

Clinical and biochemical characterization of four patients with mutations in ECHS1

Tekijä Ferdinandusse, Sacha, Friederich, Marisa W., Burlina, Alberto, Ruiter, Jos P. N., Coughlin, Curtis R., Dishop, Megan K., Gallagher, Renata C., Bedoyan, Jirair K., Vaz, Frédéric M., Waterham, Hans R., Gowan, Katherine, Chatfield, Kathryn, Bloom, Kaitlyn, Bennett, Michael J., Elpeleg, Orly, Van Hove, Johan L. K., Wanders, Ronald J. A.
Julkaisussa Orphanet J Rare Dis (2015)

Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy

Tekijä Raina, Rupesh, Bedoyan, Jirair K., Lichter-Konecki, Uta, Jouvet, Philippe, Picca, Stefano, Mew, Nicholas Ah, Machado, Marcel C., Chakraborty, Ronith, Vemuganti, Meghana, Grewal, Manpreet K., Bunchman, Timothy, Sethi, Sidharth Kumar, Krishnappa, Vinod, McCulloch, Mignon, Alhasan, Khalid, Bagga, Arvind, Basu, Rajit K., Schaefer, Franz, Filler, Guido, Warady, Bradley A.
Julkaisussa Nat Rev Nephrol (2020)