Publications

Online Publications

• Hua Wang, M.D., Ph.D., Ann Ly, GC, MSc.; Genetics Corner: A New Case of Rubinstein-Taybi Syndrome with a Novel Variant in the CREBBP Gene Detected through Whole Exome Sequencing, Neonatology Today, Volume 18 / Issue 12 | December 2023 (12/2023) (link)
• Hua Wang, M.D., Ph.D., Enas Louzy, GC., MSc.. A Newborn with Difficult Intubation Diagnosed with Treacher Collins Syndrome and Detection of a Novel Pathogenic Variant in TCOF1, Neonatology Today,  Volume 18 / Issue 10 | October 2023 (10/2023) (link)
• Heidi Duarte, M.D, Curtis Grossheim, MS, Hua Wang, M.D., Robin Clark, M.D: Diabetic embryopathy with prominent bone anomalies in an infant of diabetic mother.  Neonatology Today, Volume 17 / Issue 7 | July 2022  (07/2022) (link)
• Carolina Olavarry, MD, Jason W. Tate, MS, Ashleigh Hansen, CGC, MS, Hua Wang, MD, Robin D. Clark, MD. Alpha Thalassemia X-Linked Intellectual Disability Syndrome in an Infant with Developmental Delay and DYS Recurrent Respiratory Failure Confirmed by Whole-Exome Sequencing. Neonatology Today, Vol 17; Issue 2; Feb 2022 https://www.neonatologytoday.net/newsletters/nt-feb22.pdf (02/2022) (link)
• Hua Wang, MD, Nivedita Rajakumar, MS, Subhadra Ramanathan, MS. Robin Clark, MD: Prenatal diagnosis of severe perinatal hypophosphatasia allowed early treatment with enzyme replacement therapy on the first day of life. Neonatology Today, Vol 15; Issue 10; Oct 2020 https://www.neonatologytoday.net/newsletters/nt-oct20.pdf (10/2020)

Scholarly Journals--Published

• Kuan J, Hansen A, Wang H. Case Report: A new case of YARS1-associated autosomal recessive disorder with compound heterozygous and concurrent 47, XXY. Front Pediatr. 2023 Dec 6;11:1282253. doi: 10.3389/fped.2023.1282253. PMID: 38125821; PMCID: PMC10731953.   (12/2023) (link)
• Wang H, Wierenga A, Prabhu S, Wierenga K. MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes. 2023 Nov 30. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 38048414. (11/2023) (link)
• Zhang H, Wang X, Li S, Wang X, Lu X, Li M, Wang H, Liu Y, Pang H, Zhang L. FLT3 Amplification as Double Minute Chromosomes in a Patient with Chronic Myelomonocytic Leukemia. Dis Markers. 2021 Jun 5;2021:9932837. doi: 10.1155/2021/9932837. PMID: 34194582; PMCID: PMC8203365. (06/2021) (link)
•  Wang X. Pang H, Shah BA, Gu H, Zhang L, Wang H, A Male Case of Kagami-Ogata Syndrome Caused by Paternal Unipaternal Disomy 14 as a Result of a Robertsonian Translocation. Front Pediatr. 2020 Mar 10;8:88. doi: 10.3389/fped.2020.00088. eCollection 2020. PubMed PMID: 32211354; PubMed Central PMCID: PMC7076151. https://pubmed.ncbi.nlm.nih.gov/32211354/ (06/2020) (link)
• Kondo Y, Fu J, Wang H, Hoover C, McDaniel M, Steet R, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L. Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking. JCI Insight. 2018 Jul 26;3(14). pii: 121596. doi: 10.1172/jci.insight.121596. [Epub ahead of print] PubMed PMID: 30046013. (07/2018) (link)