SihounHahnMD

PubMed

• 1 citations
  ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.
  Varsha Venkatarangan, Weichao Zhang, Xi Yang, Jess Thoene, Si Houn Hahn, Ming Li> ;The Journal of Clinical Investigation. 2023 Oct 2
• Oncogenic signaling pathways and hallmarks of cancer in Korean patients with acral melanoma.
  SeongRyeol Moon, Hee Joo Kim, Yeeun Lee, Yu Joo Lee, Sungwon Jung, Jin Sook Lee, Si Houn Hahn, Kyungdoc Kim, Joo Young Roh, Seungyoon Nam> ;Computers in Biology and Medicine. 2023 Mar 1
• 11 citations
  Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary...
  Priya S Kishnani, David Kronn, Anaïs Brassier, Alexander Broomfield, James Davison, Si Houn Hahn, Satoko Kumada, François Labarthe, Hirotaka Ohki, Samia Pichard, S Gra...> ;Genetics in Medicine. 2023 Feb 1
• 2 citations
  A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
  Tong Zhang, Phi Duong, Remwilyn Dayuha, Christopher J Collins, Erika Beckman, Jenny Thies, Irene Chang, Christina Lam, Angela Sun, Anna I Scott, John Thompson, Aranjee...> ;Molecular Genetics and Metabolism. 2022 Aug 1
• 6 citations
  Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease.
  Marlene Panzer, André Viveiros, Benedikt Schaefer, Nadja Baumgartner, Klaus Seppi, Atbin Djamshidian, Theodor Todorov, William J H Griffiths, Eckart Schott, Markus Sch...> ;Hepatology Communications. 2022 Jul 1
• Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
  Tina Duong, Priya S Kishnani, Kristina An Haack, Meredith C Foster, James B Gibson, Catherine Wilson, Si Houn Hahn, Richard Hillman, David Kronn, Nancy D Leslie, Loren...> ;Journal of Neuromuscular Diseases. 2022 Jan 1
• 5 citations
  Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
  Barry J. Byrne, Steven D. Colan, Priya S. Kishnani, Meredith C. Foster, Susan Sparks, James B. Gibson, Kristina An Haack, David W. Stockton, Loren D.M. Pena, Si Houn H...> ;Cardiology in the Young. 2021 Aug 23
• 12 citations
  Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
  Thomas A. Ravenscroft, Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy L. Peirce, Jeremy Wegner, Alia A. Luna, Eric J. Fox, Yi-Lin Yan, Jill A. Rosenf...> ;Genetics in Medicine. 2021 Jun 10
• 33 citations
  Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease
  Christopher J. Collins, Fan Yi, Remwilyn Dayuha, Phi Duong, Simon Horslen, Michelle Camarata, Ayse K. Coskun, Roderick H. J. Houwen, Tudor Lucian Pop, Heinz Zoller, Ha...> ;Gastroenterology. 2021 Jun 1
• 7 citations
  Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.
  Marie K. Norris, Anna I. Scott, Sarah Sullivan, Irene J. Chang, Christina Lam, Angela Sun, Sihoun Hahn, Jenny Thies, Melissa Gunnarson, Kelly N. McKean, J. Lawrence Me...> ;JPEN. Journal of Parenteral and Enteral Nutrition. 2021 Feb 1
• 16 citations
  Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
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• 2 citations
  p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease
  Fan Yi, Sheri A. Poskanzer, Candace T. Myers, Jenny Thies, Christopher J. Collins, Remwilyn Dayuha, Phi Duong, Roderick H. J. Houwen, Si Houn Hahn> ;JIMD Reports. 2020 Jul 1
• 20 citations
  Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots.
  Christopher J. Collins, Fan Yi, Remwilyn Dayuha, Jeffrey R. Whiteaker, Hans D. Ochs, Alexandra F. Freeman, Helen C. Su, Amanda G. Paulovich, Gesmar Rodrigues Silva Seg...> ;Frontiers in Immunology. 2020 Apr 1
• 3 citations
  The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis.
  Sheri A. Poskanzer, Jenny Thies, Christopher J. Collins, Candace T. Myers, Remwilyn Dayuha, Phi Duong, Fan Yi, Irene J. Chang, Hans D. Ochs, Troy R. Torgerson, Si Houn...> ;Molecular Genetics & Genomic Medicine. 2020 Feb 17
• 6 citations
  Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
  Priya S. Kishnani, James B. Gibson, Michael J. Gambello, Richard Hillman, David W. Stockton, David Kronn, Nancy D. Leslie, Loren D.M. Pena, Pranoot Tanpaiboon, John W....> ;Genetics in Medicine. 2019 May 14
• 20 citations
  Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots.
  Christopher J. Collins, Irene J. Chang, Sunhee Jung, Remwilyn Dayuha, Jeffrey R. Whiteaker, Gesmar Rodrigues Silva Segundo, Troy R. Torgerson, Hans D. Ochs, Amanda G. ...> ;Frontiers in Immunology. 2018 Dec 4
• 19 citations
  Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phas...
  Si Houn Hahn, David Kronn, Nancy D. Leslie, Loren D.M. Pena, Pranoot Tanpaiboon, Michael J. Gambello, James B. Gibson, Richard Hillman, David W. Stockton, John W. Day,...> ;Genetics in Medicine. 2018 Mar 22
• 113 citations
  De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
  Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, Martina Proietti Onori, Xenia Latypova, Meghan C. Towne, Megan T. Cho, Trine Prescott, Melissa A. Ploeg, Stephen...> ;American Journal of Human Genetics. 2017 Nov 2
• 32 citations
  Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease.
  Sunhee Jung, Jeffrey R. Whiteaker, Lei Zhao, Han-Wook Yoo, Amanda G. Paulovich, Si Houn Hahn> ;Journal of Proteome Research. 2017 Feb 3
• 66 citations
  The Genetics of Wilson Disease
  Irene J Chang, Si Houn Hahn> ;Handbook of Clinical Neurology. 2017 Jan 1
• 16 citations
  Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De Novo CACNA1A Variant
  Heather M. Byers, Christopher W. Beatty, Si Houn Hahn, Sidney M. Gospe> ;Pediatric Neurology. 2016 Jul 1
• 7 citations
  Metabolic evaluation of children with global developmental delay
  So Hee Eun, Si Houn Hahn> ;Korean Journal of Pediatrics. 2015 Apr 22
• 85 citations
  Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders
  Jong Hee Chae, Valeria Vasta, Anna Cho, Byung Chan Lim, Qing Zhang, So Hee Eun, Si Houn Hahn> ;Journal of Medical Genetics. 2015 Mar 1
• 26 citations
  Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
  James T. Bennett, Valeria Vasta, Min Zhang, Jaya Narayanan, Peter M Gerrits, Si Houn Hahn> ;Molecular Genetics and Metabolism. 2015 Mar 1
• 58 citations
  Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genom...
  Marni J. Falk, Lishuang Shen, Michael A. Gonzalez, Jeremy Leipzig, Marie T. Lott, Alphons P. M. Stassen, Maria Angela Diroma, Daniel Navarro-Gomez, Philip E. Yeske, Re...> ;Molecular Genetics and Metabolism. 2015 Mar 1
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