Division / Specialty	Genetics
Birthplace	Honolulu, Hawaii
Medical School	University of Hawaii John A. Burns School of Medicine
Internship/Residency	University of Hawaii Pediatric Residency Program
Fellowship	The Children’s Hospital of Philadelphia + University of Pennsylvania Perelman School of Medicine – Medical Genetics + Genomics Fellowship
Hobbies	Enjoying time with my `ohana, dancing hula, playing music
Clinical Interest	Dysmorphology, inborn errors of metabolism
Research Interest	Genomic health disparities in underrepresented minority populations, Native Hawaiian health
Community Involvement	‘Ahahui o nā Kauka (board member), Papahana Kuaola
Publications / Scholarly	Dowsett, L.  Nelson’s Pediatric Board Review, First Edition, Elsevier. “Chapter 35: Selected Topics in Genetics and Dysmorphology.” 2018; British Medical Association’s 2019 Book Award – First Prize in Pediatrics. Grand K, Dowsett L, Lulis L, Mazzola S, Nesbitt A, Cohen J, Denenberg E, Tarpinian J, Bedoukian E, Deardorff M, Santani A, Skraban S, Zackai E. CYP26B1 Mutations in Four Living Patients with Craniosynostosis and Multiple Skeletal Anomalies. AJMG Part A, May 22, 2021. Vol 158A: 2766-2775. PMID: 34160123. 10.1002/ajmg.a.62387  Dowsett L and Enos S. Depiction of Haloa by Solomon Enos. AJMG Part C. March 3, 2021. Vol. 187c: 265-268. PMID: 33482419. 10.1016/j.jaip.2021.01.004  Abe K, Dowsett L, Wada R, Hutchins K. A pediatric case of acute myeloid leukemia with KMT2A Gene Rearrangement t(10;11) and 16p11.2 microdeletion syndrome. Pediatric Blood & Cancer, October 15, 2020.  Letter to the editor.  PMID:33058483. 10.1002/pbc.28764 Tekendo-Ngongang C, et al, …Dowsett L, …Muenke M.  Rubenstein-Taybi Syndrome in Diverse Populations.  AJMG Part A, September 5, 2020. Vol 182A:2939-2950. PMID: 29681090. 10.1002/ajmg.a.38672 Rabin R, et al,…Dowsett L,…Pappas J. Genotype-phenotype correlation at codon 1740 of SETD2. AJMG Part A, May 2020.  Vol 182A: 2037-2048. PMID: 32710489. 10.1002/ajmg.a.61724 Carter L, et al,…Dowsett L, …Hudgins L.  Perinatal Distress in 1p36 Deletion Syndrome can Mimic Hypoxic Ischemic Encephalopathy. AJMG Part A, June 2019. Vol 179 (2): 150 – 158. PMID: 31207089. 10.1002/ajmg.a.61266  Dowsett L, et al, Kruszka P, Muenke M, and Krantz I. Cornelia de Lange Syndrome in Diverse Populations.  AJMG Part A, February 2019. Vol 179 (2): 150 – 158. PMID: 30614194. 10.1002/ajmg.a.61033 Kruszka P, et al, …Dowsett L, …Muenke M.  Williams-Beuren Syndrome in Diverse Populations.  AJMG Part A, May 2018. Vol 176 (5):1128-1136. PMID: 29681090. 10.1002/ajmg.a.38672

Contact Information: https://www.hawaii.edu/directory/index.php