ChungUnLeeMD

PubMed

• Clinicopathologic Features of IDEDNIK (MEDNIK) Syndrome in a Term Infant: Histopathologic Features of the Gastrointestinal Tract and Report of a NovelVariant.
  Jiajie G Lu, Shweta S Namjoshi, Shawn Tahata, Chung Un Lee, Lin Wang, Erin McDonnell, Melissa Seely, Martin G Martin, Florette K Hazard, Niehaus, A.> ;Pediatric and Developmental Pathology. 2023 Jun 6
• 2 citations
  MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
  Christina G Tise, Courtney P Verscaj, Bryce A Mendelsohn, Jeremy Woods, Chung U Lee, Gregory M Enns, Zinandré Stander, Patricia L Hall, Tina M Cowan, Kristina P Cusman...> ;American Journal of Medical Genetics. Part A. 2023 Jun 1
• 2 citations
  Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy.
  Bryce A Mendelsohn, Bree Zimmerman, Chung U Lee, Melanie A Manning, Kristina P Cusmano-Ozog, Christina G Tise, Niehaus, A.> ;American Journal of Medical Genetics. Part A. 2023 May 1
• 15 citations
  Variable clinical severity in TANGO2 deficiency: Case series and literature review.
  Jennifer C. Schymick, Peter Leahy, Tina M. Cowan, Maura R.Z. Ruzhnikov, Ryan Gates, Liliana Fernandez, Gopal Pramanik, Vamsi V. Yarlagadda, Matthew T. Wheeler, Jonatha...> ;American Journal of Medical Genetics. Part A. 2021 Oct 19
• Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2
  J. Andres Morales, Christina G. Tise, Amrita Narang, Paul C. Grimm, Gregory M. Enns, Chung Lee> ;Molecular Genetics and Metabolism Reports. 2021 May 1
• 5 citations
  Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
  Christina G. Tise, Jose Andres Morales, Ariel S Lee, Frances Velez-Bartolomei, Brendan J Floyd, Rebecca J. Levy, Kristina Cusmano-Ozog, Annette Feigenbaum, Maura R.Z. ...> ;American Journal of Medical Genetics. Part A. 2021 Mar 8
• 4 citations
  Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.
  Yue Huang, Rajesh Sharma, Annette Feigenbaum, Chung Lee, Inderneel Sahai, Rossana Sanchez Russo, Juanita Neira, Susan Sklower Brooks, Kelly E. Jackson, Derek Wong, Ste...> ;Molecular Genetics and Metabolism Reports. 2021 Mar 3
• 21 citations
  Gaucher disease and SARS-CoV-2 infection: Emerging management challenges.
  Pramod K. Mistry, Manisha Balwani, Deborah Barbouth, T. Andrew Burrow, Edward I. Ginns, Ozlem Goker-Alpan, Gregory A. Grabowski, Reena V. Kartha, Priya S. Kishnani, He...> ;Molecular Genetics and Metabolism. 2020 Jul 1
• 7 citations
  Rare Saposin A deficiency: Novel variant and psychosine analysis.
  Laurel Calderwood, David A. Wenger, Dietrich Matern, Hisham Dahmoush, Valerie Watiker, Chung Lee> ;Molecular Genetics and Metabolism. 2020 Feb 1
• 6 citations
  Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.
  Wenmiao Zhu, Jianli Li, Stella Chen, Jinglan Zhang, Francesco Vetrini, Alicia Braxton, Christine M. Eng, Yaping Yang, Fan Xia, Kory Keller, Leila Okinaka-Hu, Chung Lee...> ;American Journal of Medical Genetics. Part A. 2018 Apr 1
• 33 citations
  Molecular and clinical spectra of FBXL4 deficiency
  Ayman W. El-Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa Faqeih, Ali Al Asmari, Mohammed A. Saleh, Mohammed A. O. Elamin, Majid Alfadhel, Fowzan S. Alku...> ;Human Mutation. 2017 Dec 1
• 17 citations
  Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California
  Natalie M. Gallant, Karen Leydiker, Yael Wilnai, Chung Lee, Fred Lorey, Lisa Feuchtbaum, H. Tang, Jennifer M. Carter, Gregory M. Enns, Seymour Packman, H.J. Lin, Willi...> ;Molecular Genetics and Metabolism. 2017 Nov 1
• 175 citations
  Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
  Arkadiusz Piotrowski, Jing Xie, Ying F Liu, Andrzej Poplawski, Alicia Gomes, Piotr Madanecki, Chuanhua Fu, Michael R. Crowley, David K. Crossman, Linlea Armstrong, Dus...> ;Nature Genetics. 2014 Feb 1
• 3 citations
  Teaching NeuroImages: Infant with glutaric aciduria type 1 presenting with infantile spasms and hypsarrhythmia
  Nichole Young-Lin, Sarah Shalev, Orit A. Glenn, Marisa Gardner, Chung Lee, Anthony Wynshaw-Boris, Amy A. Gelfand> ;Neurology. 2013 Dec 10
• 11 citations
  Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
  Jacob Hogue, Chung Lee, Angie C. Jelin, MN Strecker, Victoria A. Cox, Anne Slavotinek> ;Clinical Genetics. 2013 Oct 1
• 53 citations
  The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
  Sarah M. Nikkel, Andrew Dauber, Sonja A. de Munnik, Meghan Connolly, Rebecca L. Hood, Oana Caluseriu, Jane A. Hurst, Usha Kini, Małgorzata J.M. Nowaczyk, Alexandra Afe...> ;Orphanet Journal of Rare Diseases. 2013 Apr 27
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