Population screening for Wilson's disease von Hahn, Si Houn

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Targeted next-generation sequencing expands the spectrum of mitochondrial disorders von Hahn, Si Houn

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Tryptic Peptide Analysis of Ceruloplasmin in Dried Blood Spots Using Liquid Chromatography-Tandem Mass Spectrometry: Application to Newborn Screening von deWilde, Amy, Sadilkova, Katerina, Sadilek, Martin, Vasta, Valeria, Hahn, Si Houn

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Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum von Vasta, Valeria, Merritt II, J Lawrence, Saneto, Russell P., Hahn, Si Houn

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Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia von Minutti, Carla Z., Lacey, Jean M., Magera, Mark J., Hahn, Si Houn, McCann, Mark, Schulze, Andreas, Cheillan, David, Dorche, Claude, Chace, Donald H., Lymp, James F., Zimmerman, Donald, Rinaldo, Piero, Matern, Dietrich

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Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity von DaRe, Jeana T, Vasta, Valeria, Penn, John, Tran, Nguyen-Thao B, Hahn, Si Houn

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ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine von Venkatarangan, Varsha, Zhang, Weichao, Yang, Xi, Thoene, Jess G, Hahn, Si H, Li, Ming

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Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson’s Disease von Jung, Sunhee, Whiteaker, Jeffrey R, Zhao, Lei, Yoo, Han-Wook, Paulovich, Amanda G, Hahn, Si Houn

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Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots von Collins, Christopher J, Yi, Fan, Dayuha, Remwilyn, Whiteaker, Jeffrey R, Ochs, Hans D, Freeman, Alexandra, Su, Helen C, Paulovich, Amanda G, Segundo, Gesmar R S, Torgerson, Troy, Hahn, Si Houn

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Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots von Collins, Christopher J, Chang, Irene J, Jung, Sunhee, Dayuha, Remwilyn, Whiteaker, Jeffrey R, Segundo, Gesmar R S, Torgerson, Troy R, Ochs, Hans D, Paulovich, Amanda G, Hahn, Si Houn

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Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De Novo CACNA1A Variant von Byers, Heather M., MD, Beatty, Christopher W., MD, Hahn, Si Houn, MD, PhD, Gospe, Sidney M., MD, PhD

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The First Successful Prenatal Diagnosis on a Korean Family with Citrullinemia von Hong, Kyeong-Man, Paik, Moon-Kee, Yoo, Ook-Joon, Hahn, Si-Houn

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Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders von Chae, Jong Hee, Vasta, Valeria, Cho, Anna, Lim, Byung Chan, Zhang, Qing, Eun, So Hee, Hahn, Si Houn

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Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry von Lacey, Jean M, Minutti, Carla Z, Magera, Mark J, Tauscher, Angela L, Casetta, Bruno, McCann, Mark, Lymp, James, Hahn, Si Houn, Rinaldo, Piero, Matern, Dietrich

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Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease von Panzer, Marlene, Viveiros, André, Schaefer, Benedikt, Baumgartner, Nadja, Seppi, Klaus, Djamshidian, Atbin, Todorov, Theodor, Griffiths, William J. H., Schott, Eckart, Schuelke, Markus, Eurich, Dennis, Stättermayer, Albert Friedrich, Bomford, Adrian, Foskett, Pierre, Vodopiutz, Julia, Stauber, Rudolf, Pertler, Elke, Morell, Bernhard, Tilg, Herbert, Müller, Thomas, Kiechl, Stefan, Jimenez‐Heredia, Raul, Weiss, Karl Heinz, Hahn, Si Houn, Janecke, Andreas, Ferenci, Peter, Zoller, Heinz

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Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein von Tiranti, Valeria, D’Adamo, Pio, Briem, Egill, Ferrari, Gianfrancesco, Mineri, Rossana, Lamantea, Eleonora, Mandel, Hanna, Balestri, Paolo, Garcia-Silva, Maria-Teresa, Vollmer, Brigitte, Rinaldo, Piero, Hahn, Si Houn, Leonard, James, Rahman, Shamima, Dionisi-Vici, Carlo, Garavaglia, Barbara, Gasparini, Paolo, Zeviani, Massimo

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p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease von Yi, Fan, Poskanzer, Sheri A., Myers, Candace T., Thies, Jenny, Collins, Christopher J., Dayuha, Remwilyn, Duong, Phi, Houwen, Roderick, Hahn, Si Houn

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Metabolic evaluation of children with global developmental delay von Eun, So-Hee, Hahn, Si Houn

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The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis von Poskanzer, Sheri A., Thies, Jenny, Collins, Christopher J., Myers, Candace T., Dayuha, Remwilyn, Duong, Phi, Yi, Fan, Chang, Irene J., Ochs, Hans D., Torgerson, Troy R., Hahn, Si Houn

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Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism von Bennett, James T., Vasta, Valeria, Zhang, Min, Narayanan, Jaya, Gerrits, Peter, Hahn, Si Houn

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