Meet Dr. Joanne Nguyen
Very early in her medical training, Joanne Nguyen, MD, FAAP, FACMG, developed a passion for helping children and families with special health care needs. After completing medical school and residency at UCLA, Dr. Nguyen entered the highly specialized field of clinical genetics. Today, she is a board-certified pediatrician and medical geneticist.
During her career, Dr. Nguyen has been involved in several clinical research studies. She has also earned multiple teaching and doctor awards. But the most important and rewarding aspect for her is providing compassionate care for families who oftentimes have challenging, rare or unknown diagnoses. They are the reason she went into medicine and why she enjoys the exciting and ever-growing field of genetics.
Outside of her medical practice, she enjoys traveling to beach and snow destinations with her husband and three children.
- Coordination and interpretation of genetic testing
- Evaluation and diagnosis of rare genetic conditions
- Genetic counseling and patient education
- Long-term surveillance and management of genetic disorders
- Prenatal counseling
- Benjamin RH, Mitchell LE, Scheuerle AE, Langlois PH, Canfield MA, Drummond-Borg M, Nguyen JM, & Agopian AJ. Identifying syndromes in studies of structural birth defects: Guidance on classification and evaluation of potential impact. Am.J.Med.Genet.A. 2023:191(1):190-204. (PubMed ID 36286533)
- Kline, A. D., Nguyen, J. M., & Campbell, D. J. (2021). Deletion 5p syndrome. In J. C. Carey, A. Battaglia, D. Viskochil & S. B. Cassidy (Eds.), Cassidy and Allanson's management of genetic syndromes (4th ed., pp. 281-290). Hoboken, NJ: Wiley Blackwell.
- Schraw JM, Woodhouse JP, Benjamin RH, Shumate CJ, Nguyen J, Canfield MA, Agopian AJ, & Lupo PJ. Factors associated with nonsyndromic anotia and microtia, Texas, 1999-2014. Birth Defects Res. 2023:115(1):67-78. (PubMed ID 36398384)
- Yuan B, Schulze KV, Assia Batzir N, Sinson J, Dai H, Zhu W, Bocanegra F, Fong C, Holder J, Nguyen J, Schaaf CP, Yang Y, Bi W, Eng C, Shaw C, Lupski JR, & Liu P. Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. Genome Med. 2022:14(1):113-y (PubMed ID 36180924)
- Wagner VF, Northrup H, Hashmi SS, Nguyen J, Koenig MK, Davis JM. 2018. Attitudes of Individuals with Gaucher Disease toward Substrate Reduction Therapies. J Genet Couns 27(1):169-176. PMID: 28803392
- Aggarwal A, Nguyen J, Rivera-Davila M, Rodriguez-Buritica D. 2017. Marshall-Smith Syndrome and Precocious Puberty: an Unreported Association. Eur J Med Genet 60(7):391-394. PMID: 28442439
- Courtney R, Gamble C, Arango ML, Shah A, Rubio NI, Nguyen J, Rodriguez-Buritica D. 2016. Novel homozygous intronic mutation in INS causing permanent neonatal diabetes in siblings. J Pediatr Endocrinol Metab 29(9):1089-1093. PMID: 27487489
- Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G, Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen J, Bézieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB. 2016. Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia and seizures. Am J Hum Genet 98(5): 1001-1010. PMID: 27108799
- Nguyen J, Lemons J, Crandell S, Northrup H. 2016. Efficacy of a medical genetics rotation during pediatric training. Genet Med 18(2):199-202. PMID: 25973883
- Nguyen J, Qualmann KJ, Okashah R, Reilly AS, Alexeyev MF, Campbell DJ. 2015. 5p Deletions: Current Knowledge and Future Directions. Am J Med Genet C Semin Med Genet 169(3):224-38. PMID: 26235846
- Gamble C, Nguyen J, Hashmi SS, Hecht JT. 2015. Pseudoachondroplasia and painful sequelae. Am J Med Genet 167A(11):2618-22. PMID: 26177939
- Nguyen J, Gamble C, Smith JL, Raia M, Johnson A, Czerwinski J. 2014. Prenatal diagnosis of 5p deletion syndrome in a female fetus leading to identification of the same diagnosis in her mother. Prenat Diagn 34(11):1115-8. PMID: 24933341
- Macayran J, Cederbaum S, Fox M. 2006. Diagnostic yield of chromosome analysis in patients with developmental delay or mental retardation who are otherwise nondysmorphic. Am J Med Genet 140(21):2320-3. PMID: 17022071
- Macayran J, Brodie SG, Rao PN, O'Connor MJ, Gray JA, Ciarimboli B, Dipple KM. 2006. Duplication 8q22.1-q24.1 associated with bipolar disorder and speech delay. Bipolar Disorders 8(3):294-8. PMID: 16696833
- Macayran J, Doroshow RW, Phillips J, Sinow RM, Furst BA, Smith LM, Lin HJ. 2002. PAGOD syndrome: eighth case and comparison to animal models of congenital vitamin A deficiency. Am J Med Genet 108(3):229-34. PMID: 11891692
- Medical School:
- University of California, Los Angeles
- University of California, Los Angeles
- Board Certifications:
- American Board of Pediatrics
- American Board of Medical Genetics and Genomics
- American Academy of Pediatrics
- American College of Medical Genetics
- Cook Children's Physician Network