Presentation

Poster

• Wang H,   Fteeh G:   A new case of beta-propeller protein-associated neurodegeneration (BPAN) in a 7- year old male with a novel mosaic WDR45 mutation, ESHG Virtual Conference, June 6-9, 2020 (06/2020)
• Nivedita R., Wang H., A Novel Likely Pathogenic Variant in CHD1 Gene Identified in a Family with Multigenerational Gastric Cancer., ASHG 2020, October 27-3, Virtual meeting  (10/2020)
• Wang H. Nivedita R. An unusual case of Cowden syndrome with colonic ganglioneuromatosis as presenting manifestation and mosaic mutation in PTEN gene., ASHG 2020, October 27-31, Virtual Meeting.  (10/2020)
• Wang H., Stacy A., Mnuoz A., Gold JA., A rare case of Bardet Biedl syndrome presented as acute onset of heart failure and dilated cardiomyopathy., ASHG 2021, October 18-20., Virtual meeting (10/2021)
• Wang H. New cases of FDXR-associate disorder in twin brothers and failed mitochondrial cocktail trial treatment. ACMG, 2022, March 14-18., Virtual meeting (03/2022)
• Hua Wang, Curtis Grossheim, Subhadra Ramanathan,Robin Clark : Two novel compound heterozygous variants identified in a new case of classic Donohue syndrome and literature review., ASHG 2022, Los Angeles, CA, Oct 25-29  (10/2022)
• Janene Kuan, Ashleigh Hansen, Hua Wang: A new case of YARS1 associated multisystemic disorder with compound heterozygous in a patient with Klinefelter syndrome., ASHG 2022, Los Angeles, CA, Oct 25-29  (10/2022)
• Hua Wang, Subhadra Ramanathan., Atypical presentations of Shwachman-Diamond syndrome diagnosed by whole exome sequencing and literature review, ACMG 2023, Salt Lake City, Utah, March 14-18  (03/2023)

Research

• Wang H, Wang X, Pang H, Shah, B, Gu H, Zhang L, A new male case of Kagami-Ogata syndrome caused by paternal unipaternal disomy 14 resulting from Robersonian translocation, WMRC 2020 Oral Presentation, Carmel, California. January 23-25, 2020 (01/2020)