Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes
Strauss, Kevin A., Carson, Vincent J., Soltys, Kyle, Young, Millie E., Bowser, Lauren E., Puffenberger, Erik G., Brigatti, Karlla W., Williams, Katie B., Robinson, Donna L., Hendrickson, Christine, Beiler, Keturah, Taylor, Cora M., Haas-Givler, Barbara, Chopko, Stephanie, Hailey, Jennifer, Muelly, Emilie R., Shellmer, Diana A., Radcliff, Zachary, Rodrigues, Ashlin, Loeven, KaLynn, Heaps, Adam D., Mazariegos, George V., Morton, D. Holmes
Published in Molecular genetics and metabolism (01.03.2020)
Published in Molecular genetics and metabolism (01.03.2020)
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Journal Article
Genomic diagnostics within a medically underserved population: efficacy and implications
Strauss, Kevin A., Gonzaga-Jauregui, Claudia, Brigatti, Karlla W., Williams, Katie B., King, Alejandra K., Van Hout, Cristopher, Robinson, Donna L., Young, Millie, Praveen, Kavita, Heaps, Adam D., Kuebler, Mindy, Baras, Aris, Reid, Jeffrey G., Overton, John D., Dewey, Frederick E., Jinks, Robert N., Finnegan, Ian, Mellis, Scott J., Shuldiner, Alan R., Puffenberger, Erik G.
Published in Genetics in medicine (01.01.2018)
Published in Genetics in medicine (01.01.2018)
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Journal Article
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier
Bowser, Lauren E., Young, Millie, Wenger, Olivia K., Ammous, Zineb, Brigatti, Karlla W., Carson, Vincent J., Moser, Teresa, Deline, James, Aoki, Kazuhiro, Morlet, Thierry, Scott, Ethan M., Puffenberger, Erik G., Robinson, Donna L., Hendrickson, Christine, Salvin, Jonathan, Gottlieb, Steven, Heaps, Adam D., Tiemeyer, Michael, Strauss, Kevin A.
Published in Molecular genetics and metabolism (01.04.2019)
Published in Molecular genetics and metabolism (01.04.2019)
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Journal Article
Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history
Carson, Vincent J, Puffenberger, Erik G, Bowser, Lauren E, Brigatti, Karlla W, Young, Millie, Korulczyk, Dominika, Rodrigues, Ashlin S, Loeven, KaLynn K, Strauss, Kevin A
Published in PloS one (06.09.2018)
Published in PloS one (06.09.2018)
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Journal Article
Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B
Williams, Katie B, Horst, Michael, Young, Millie, Pascua, Christine, Puffenberger, Erik G, Brigatti, Karlla W, Gonzaga-Jauregui, Claudia, Shuldiner, Alan R, Gidding, Samuel, Strauss, Kevin A, Chowdhury, Devyani
Published in BMC cardiovascular disorders (17.03.2022)
Published in BMC cardiovascular disorders (17.03.2022)
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Journal Article
WiTNNess : An international natural history study of infantile‐onset TNNT1 myopathy
Strauss, Kevin A., Carson, Vincent J., Bolettieri, Emilienne, Everett, Mariah, Bollinger, Ashton, Bowser, Lauren E., Beiler, Keturah, Young, Millie, Edvardson, Simon, Fraenkel, Nitay, D'Amico, Adele, Bertini, Enrico, Lingappa, Lokesh, Chowdhury, Devyani, Lowes, Linda P., Iammarino, Megan, Alfano, Lindsay N., Brigatti, Karlla W.
Published in Annals of clinical and translational neurology (01.11.2023)
Published in Annals of clinical and translational neurology (01.11.2023)
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Journal Article
Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy
Carson, Vincent J., Young, Millie, Brigatti, Karlla W., Robinson, Donna L., Reed, Robert M., Sohn, Jihee, Petrillo, Marco, Farwell, Wildon, Miller, Freeman, Strauss, Kevin A.
Published in Muscle & nerve (01.01.2022)
Published in Muscle & nerve (01.01.2022)
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Journal Article
Crigler‐Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier
Strauss, Kevin A., Ahlfors, Charles E., Soltys, Kyle, Mazareigos, George V., Young, Millie, Bowser, Lauren E., Fox, Michael D., Squires, James E., McKiernan, Patrick, Brigatti, Karlla W., Puffenberger, Erik G., Carson, Vincent J., Vreman, Hendrik J.
Published in Hepatology (Baltimore, Md.) (01.06.2020)
Published in Hepatology (Baltimore, Md.) (01.06.2020)
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Journal Article
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades
Strauss, Kevin A., Williams, Katie B., Carson, Vincent J., Poskitt, Laura, Bowser, Lauren E., Young, Millie, Robinson, Donna L., Hendrickson, Christine, Beiler, Keturah, Taylor, Cora M., Haas-Givler, Barbara, Hailey, Jennifer, Chopko, Stephanie, Puffenberger, Erik G., Brigatti, Karlla W., Miller, Freeman, Morton, D. Holmes
Published in Molecular genetics and metabolism (01.11.2020)
Published in Molecular genetics and metabolism (01.11.2020)
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Journal Article
191 CMV-specific adaptive immune response in U.S. Mennonite patients with hypomorphic RAG1 or RAG2 mutations presenting with clinical variability
Potts, David Evan, Ujhazi, Boglarka, Yilmaz, Melis, Toth, Marta, Dasso, Joseph, Blair, Grace, Franson, Brady, Altrich, Michelle, O'Gorman, Maurice, Cornaby, Caleb, Andreson, Kevin, Ward, Brant, Poskitt, Laura, Brigatti, Karlla, Young, Millie, Clark, Joelle Williamson, Verbsky, James, Sharapova, Svetlana, Butte, Manish, Notarangelo, Luigi, Strauss, Kevin, Walter, Jolan
Published in Clinical immunology (Orlando, Fla.) (01.05.2024)
Published in Clinical immunology (Orlando, Fla.) (01.05.2024)
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Journal Article
Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy
Strauss, Kevin A, Carson, Vincent J, Brigatti, Karlla W, Young, Millie, Robinson, Donna L, Hendrickson, Christine, Fox, Michael D, Reed, Robert M, Puffenberger, Erik G, Mackenzie, William, Miller, Freeman
Published in Journal of pediatric orthopaedics (01.11.2018)
Published in Journal of pediatric orthopaedics (01.11.2018)
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Journal Article
Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes
Benkert, Abigail R, Young, Millie, Robinson, Donna, Hendrickson, Christine, Lee, Peter A, Strauss, Kevin A
Published in The journal of clinical endocrinology and metabolism (01.08.2015)
Published in The journal of clinical endocrinology and metabolism (01.08.2015)
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Journal Article
LIPID LEVELS AND VASCULAR FUNCTION IN YOUNG INDIVIDUALS, HETEROZYGOUS OR HOMOZYGOUS FOR AN APOB C.1058G>A VARIANT
Chowdhury, Devyani, Pascua, Christine, Young, Millie, Horst, Michael, McCulloch, Michael A, Gidding, Samuel, Puffenberger, Erik, Strauss, Kevin, Williams, Katie
Published in Journal of the American College of Cardiology (21.03.2017)
Published in Journal of the American College of Cardiology (21.03.2017)
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Journal Article
A recessive ataxia diagnosis algorithm for the next generation sequencing era
Renaud, Mathilde, Tranchant, Christine, Martin, Juan Vicente Torres, Mochel, Fanny, Synofzik, Matthis, van de Warrenburg, Bart, Pandolfo, Massimo, Koenig, Michel, Kolb, Stefan A., Anheim, Mathieu, Alonso, Isabel, Azzedine, Hamid, Barbot, Clara, Bereau, Matthieu, Berkovic, Sam, Bernard, Geneviéve, Bindoff, Laurence A., Bompaire, Flavie, Bonneau, Dominique, Bonneau, Patrizia, Boycott, Kym M., Bras, Jose, Brais, Bernard, Brigatti, Karlla W., Cameron, Jillian, Chamova, Teodora, Choquet, Karine, Delague, Valérie, Denizeau, Philippe, Dotti, Maria Teresa, El‐Euch, Ghada, Elmalik, Salah A., Federico, Antonio, Fiskerstrand, Torunn, Gagnon, Cynthia, Guerreiro, Rita, Guissart, Claire, Hassin‐Baer, Sharon, Heimdal, Ketil Riddervold, Héron, Bénédicte, Isohanni, Pirjo, Kalaydijeva, Luba, Kawarai, Toshitaka, Koht, Jeanette Aimee, Lai, Szu‐Chia, Piana, Roberta La, Lecocq, Claire, Linnankivi, Tarja, Lönnqvist, Tuula, Lu, Chin‐Song, Maas, Roderick, Mahlaoui, Nizar, Mallaret, Martial, Marelli, Cecilia, Mariotti, Caterina, Mathieu, Jean, Méneret, Aurélie, Mignarri, Andrea, Monin, Marie Lorraine, Montaut, Solveig, Nanetti, Lorenzo, Nadjar, Yann, Poujois, Aurélia, Salih, Mustafa A., Sousa, Sergio, Stanier, Philip, Stoppa‐Lyonnet, Dominique, Strauss, Kevin, Tallaksen, Chantal, Tarnopolsky, Mark, Tinant, Nadége, Tournev, Ivailo, Topaloglu, Haluk, Varhaug, Kristin Nielsen, Woimant, France, Wolf, Nicole I., Yahalom, Gilad, Yoon, Grace, Young, Millie
Published in Annals of neurology (01.12.2017)
Published in Annals of neurology (01.12.2017)
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Journal Article
Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia
Chowdhury, Devyani, Williams, Katie B., Chidekel, Aaron, Pizarro, Christian, Preedy, Catherine, Young, Millie, Hendrickson, Christine, Robinson, Donna L., Kreiger, Portia A., Puffenberger, Erik G., Strauss, Kevin A.
Published in The Journal of pediatrics (01.12.2017)
Published in The Journal of pediatrics (01.12.2017)
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Journal Article
LIPID LEVELS AND VASCULAR FUNCTION IN YOUNG INDIVIDUALS, HETEROZYGOUS OR HOMOZYGOUS FOR AN APOB C.1058G>A VARIANT
Chowdhury, Devyani, Pascua, Christine, Young, Millie, Horst, Michael, McCulloch, Michael A., Gidding, Samuel, Puffenberger, Erik, Strauss, Kevin, Williams, Katie
Published in Journal of the American College of Cardiology (21.03.2017)
Published in Journal of the American College of Cardiology (21.03.2017)
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Journal Article