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