Search Results - "Renata Gallagher"

The role of exome sequencing in newborn screening for inborn errors of metabolism by Adhikari, Aashish N., Gallagher, Renata C., Wang, Yaqiong, Currier, Robert J., Amatuni, George, Bassaganyas, Laia, Chen, Flavia, Kundu, Kunal, Kvale, Mark, Mooney, Sean D., Nussbaum, Robert L., Randi, Savanna S., Sanford, Jeremy, Shieh, Joseph T., Srinivasan, Rajgopal, Sunderam, Uma, Tang, Hao, Vaka, Dedeepya, Zou, Yangyun, Koenig, Barbara A., Kwok, Pui-Yan, Risch, Neil, Puck, Jennifer M., Brenner, Steven E.

“…Public health newborn screening (NBS) programs provide population-scale ascertainment of rare, treatable conditions that require urgent intervention. Tandem…”
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Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD) by Laemmle, Alexander, Gallagher, Renata C, Keogh, Adrian, Stricker, Tamar, Gautschi, Matthias, Nuoffer, Jean-Marc, Baumgartner, Matthias R, Häberle, Johannes

“…Acute liver failure (ALF) has been reported in ornithine transcarbamylase deficiency (OTCD) and other urea cycle disorders (UCD). The frequency of ALF in OTCD…”
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The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health by Woerner, Audrey C., Gallagher, Renata C., Vockley, Jerry, Adhikari, Aashish N.

“…Newborn screening (NBS) is a population-based program with a goal of reducing the burden of disease for conditions with significant clinical impact on…”
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A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results by Wasserstein, Melissa, Lachmann, Robin, Hollak, Carla, Arash-Kaps, Laila, Barbato, Antonio, Gallagher, Renata C., Giugliani, Roberto, Guelbert, Norberto Bernardo, Ikezoe, Takayuki, Lidove, Olivier, Mabe, Paulina, Mengel, Eugen, Scarpa, Maurizio, Senates, Eubekir, Tchan, Michel, Villarrubia, Jesus, Chen, Yixin, Furey, Sandy, Thurberg, Beth L., Zaher, Atef, Kumar, Monica

“…This trial aimed to assess the efficacy and safety of olipudase alfa enzyme replacement therapy for non–central nervous system manifestations of acid…”
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Opportunities and challenges for the computational interpretation of rare variation in clinically important genes by McInnes, Gregory, Sharo, Andrew G., Koleske, Megan L., Brown, Julia E.H., Norstad, Matthew, Adhikari, Aashish N., Wang, Sheng, Brenner, Steven E., Halpern, Jodi, Koenig, Barbara A., Magnus, David C., Gallagher, Renata C., Giacomini, Kathleen M., Altman, Russ B.

“…Genome sequencing is enabling precision medicine—tailoring treatment to the unique constellation of variants in an individual’s genome. The impact of recurrent…”
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Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG) by Gallagher, Renata C., Pollard, Laura, Scott, Anna I., Huguenin, Suzette, Goodman, Stephen, Sun, Qin

“…Organic acid analysis detects accumulation of organic acids in urine and other body fluids and is a crucial first-tier laboratory test for a broad spectrum of…”
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Clinical Reasoning: A 2-Day-Old Boy With Sudden Cardiac Arrest and Encephalopathy by Holmes, Brandon B., Russ, Jeffrey B., Wu, Yvonne W., Gallagher, Renata C., Gano, Dawn

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Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations by Gelfand, Amy A., Gallagher, Renata C.

“…Background Inborn errors of metabolism are on the differential for patients presenting with a cyclic vomiting syndrome phenotype. Classes of disorders to…”
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Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency by Koleske, Megan L, McInnes, Gregory, Brown, Julia E H, Thomas, Neil, Hutchinson, Keino, Chin, Marcus Y, Koehl, Antoine, Arkin, Michelle R, Schlessinger, Avner, Gallagher, Renata C, Song, Yun S, Altman, Russ B, Giacomini, Kathleen M

“…Genetic variants in , encoding the membrane carnitine transporter OCTN2, cause the rare metabolic disorder Carnitine Transporter Deficiency (CTD). CTD is…”
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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism by Guillen Sacoto, Maria J., Tchasovnikarova, Iva A., Torti, Erin, Forster, Cara, Andrew, E. Hallie, Anselm, Irina, Baranano, Kristin W., Briere, Lauren C., Cohen, Julie S., Craigen, William J., Cytrynbaum, Cheryl, Ekhilevitch, Nina, Elrick, Matthew J., Fatemi, Ali, Fraser, Jamie L., Gallagher, Renata C., Guerin, Andrea, Haynes, Devon, High, Frances A., Inglese, Cara N., Kiss, Courtney, Koenig, Mary Kay, Krier, Joel, Lindstrom, Kristin, Marble, Michael, Meddaugh, Hannah, Moran, Ellen S., Morel, Chantal F., Mu, Weiyi, Muller, Eric A., Nance, Jessica, Natowicz, Marvin R., Numis, Adam L., Ostrem, Bridget, Pappas, John, Stafstrom, Carl E., Streff, Haley, Sweetser, David A., Szybowska, Marta, Walker, Melissa A., Wang, Wei, Weiss, Karin, Weksberg, Rosanna, Wheeler, Patricia G., Yoon, Grace, Kingston, Robert E., Juusola, Jane

“…MORC2 encodes an ATPase that plays a role in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous variants in MORC2 have been…”
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Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency by Gallagher, Renata C., MD, PhD, Lam, Christina, MD, Wong, Derek, MD, Cederbaum, Stephen, MD, Sokol, Ronald J., MD

“…Objective To determine the frequency of significant liver injury and acute liver failure (ALF) in patients with ornithine transcarbamylase deficiency (OTCD),…”
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Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients by Schwab, Marisa E, Brown, Julia E H, Lianoglou, Billie, Jin, Chengshi, Conroy, Patricia C, Gallagher, Renata C, Harmatz, Paul, MacKenzie, Tippi C

“…Lysosomal storage diseases (LSDs) are inherited metabolic disorders that may lead to severe multi-organ disease. Current ERTs are limited by anti-drug…”
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Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial by Wasserstein, Melissa P, Lachmann, Robin, Hollak, Carla, Barbato, Antonio, Gallagher, Renata C, Giugliani, Roberto, Guelbert, Norberto Bernardo, Hennermann, Julia B, Ikezoe, Takayuki, Lidove, Olivier, Mabe, Paulina, Mengel, Eugen, Scarpa, Maurizio, Senates, Ebubekir, Tchan, Michel, Villarrubia, Jesus, Thurberg, Beth L, Yarramaneni, Abhimanyu, Armstrong, Nicole M, Kim, Yong, Kumar, Monica

“…Abstract Background Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system manifestations of…”
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Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome by Coughlin, Curtis R., van Karnebeek, Clara D.M., Al-Hertani, Walla, Shuen, Andrew Y., Jaggumantri, Sravan, Jack, Rhona M., Gaughan, Sommer, Burns, Casey, Mirsky, David M., Gallagher, Renata C., Van Hove, Johan L.K.

“…Pyridoxine-dependent epilepsy (PDE) is an epileptic encephalopathy characterized by response to pharmacologic doses of pyridoxine. PDE is caused by deficiency…”
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Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders by Lichter-Konecki, Uta, Sanz, Jacqueline H., McCarter, Robert

“…Background Urea cycle disorders (UCDs) cause impaired conversion of waste nitrogen to urea leading to rise in glutamine and ammonia. Elevated ammonia and…”
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ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype by Lerner, Shaul, Eilam, Raya, Adler, Lital, Baruteau, Julien, Kreiser, Topaz, Tsoory, Michael, Brandis, Alexander, Mehlman, Tevie, Ryten, Mina, Botia, Juan A., Ruiz, Sonia Garcia, Garcia, Alejandro Cisterna, Dionisi-Vici, Carlo, Ranucci, Giusy, Spada, Marco, Mazkereth, Ram, McCarter, Robert, Izem, Rima, Balmat, Thomas J., Richesson, Rachel, Gazit, Ehud, Nagamani, Sandesh C. S., Erez, Ayelet

“…Argininosuccinate lyase (ASL) is essential for the NO-dependent regulation of tyrosine hydroxylase (TH) and thus for catecholamine production. Using a…”
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Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy by Gallagher, Renata C., Van Hove, Johan L. K., Scharer, Gunter, Hyland, Keith, Plecko, Barbara, Waters, Paula J., Mercimek-Mahmutoglu, Saadet, Stockler-Ipsiroglu, Sylvia, Salomons, Gajja S., Rosenberg, Efraim H., Struys, Eduard A., Jakobs, Cornelis

“…Objective Folinic acid–responsive seizures and pyridoxine‐dependent epilepsy are two treatable causes of neonatal epileptic encephalopathy. The former is…”
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Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population by Slavotinek, Anne, Rego, Shannon, Sahin-Hodoglugil, Nuriye, Kvale, Mark, Lianoglou, Billie, Yip, Tiffany, Hoban, Hannah, Outram, Simon, Anguiano, Beatrice, Chen, Flavia, Michelson, Jeremy, Cilio, Roberta M., Curry, Cynthia, Gallagher, Renata C., Gardner, Marisa, Kuperman, Rachel, Mendelsohn, Bryce, Sherr, Elliott, Shieh, Joseph, Strober, Jonathan, Tam, Allison, Tenney, Jessica, Weiss, William, Whittle, Amy, Chin, Garrett, Faubel, Amanda, Prasad, Hannah, Mavura, Yusuph, Van Ziffle, Jessica, Devine, W. Patrick, Hodoglugil, Ugur, Martin, Pierre-Marie, Sparks, Teresa N., Koenig, Barbara, Ackerman, Sara, Risch, Neil, Kwok, Pui-Yan, Norton, Mary E.

“…The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals of European ancestry, with less focus on underrepresented minority…”
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Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing by Chatfield, Kathryn C, Coughlin, 2nd, Curtis R, Friederich, Marisa W, Gallagher, Renata C, Hesselberth, Jay R, Lovell, Mark A, Ofman, Rob, Swanson, Michael A, Thomas, Janet A, Wanders, Ronald J A, Wartchow, Eric P, Van Hove, Johan L K

“…Muscle, heart and liver were analyzed in a male subject who succumbed to HSD10 disease. Respiratory chain enzyme analysis and BN-PAGE showed reduced activities…”
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Clinical and biochemical characterization of four patients with mutations in ECHS1 by Ferdinandusse, Sacha, Friederich, Marisa W, Burlina, Alberto, Ruiter, Jos P N, Coughlin, 2nd, 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

“…Short-chain enoyl-CoA hydratase (SCEH, encoded by ECHS1) catalyzes hydration of 2-trans-enoyl-CoAs to 3(S)-hydroxy-acyl-CoAs. SCEH has a broad substrate…”
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