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Publications

Systematic phenotype and genotype characterization of Moebius syndrome.

Webb BD, Jurgens JA, Narisu N, et al. Systematic phenotype and genotype characterization of Moebius syndrome. Genetics in medicine open. 2025;3:103437. doi:10.1016/j.gimo.2025.103437

Preparation and analysis of monotypic and organotypic tumor spheroids.

Domingues ACM, Palin C, Sun Y, et al. Preparation and analysis of monotypic and organotypic tumor spheroids. Methods in cell biology. 2025;196:139-159. doi:10.1016/bs.mcb.2024.11.003

The human milk bacteriome and mycobiome and their inter-kingdom interactions viewed across geography.

Sun H, Finlay B, Azad MB, et al. The human milk bacteriome and mycobiome and their inter-kingdom interactions viewed across geography. Frontiers in nutrition. 2025;12:1610346. doi:10.3389/fnut.2025.1610346

Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG).

Aggarwal VS, Guha S, Lebo MS, et al. Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine open. 2025;3:103433. doi:10.1016/j.gimo.2025.103433

Role of the gut microbiome in frequent gut colonization with extended-spectrum β lactamase-producing Enterobacterales among Peruvian children.

Nadimpalli ML, Sehgal N, Rojas-Salvatierra L, et al. Role of the gut microbiome in frequent gut colonization with extended-spectrum β lactamase-producing Enterobacterales among Peruvian children. Gut microbes. 2025;17(1):2541029. doi:10.1080/19490976.2025.2541029

Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand.

Musgrave SM, Taylor J, Whitford W, et al. Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand. Journal of the Royal Society of New Zealand. 2025;55(6):2464-2480. doi:10.1080/03036758.2024.2394128

The PKU Patient Registry: Development of a patient-driven registry and initial outcomes.

Youngborg L, Brown CS, Blakely EM, et al. The PKU Patient Registry: Development of a patient-driven registry and initial outcomes. Molecular genetics and metabolism. 2025;146(1-2):109199. doi:10.1016/j.ymgme.2025.109199

Decidual/placental and first trimester plasma levels of hsa-miR-199a-3p|hsa-miR-199b-3p and hsa-miR-3150b-3p are associated with insulin secretion in pregnancy.

Taschereau A, White F, Allard C, et al. Decidual/placental and first trimester plasma levels of hsa-miR-199a-3p|hsa-miR-199b-3p and hsa-miR-3150b-3p are associated with insulin secretion in pregnancy. Frontiers in endocrinology. 2025;16:1622500. doi:10.3389/fendo.2025.1622500

Childhood trauma and adolescent substance use: an integrative perspective.

Hoffmann JP, Hoffmann CS. Childhood trauma and adolescent substance use: an integrative perspective. Future science OA. 2025;11(1):2557763. doi:10.1080/20565623.2025.2557763

Sleep quality and efficiency in adults with post-acute sequelae of COVID-19.

Gutiérrez-Martínez L, Reynolds WC, Abril I, et al. Sleep quality and efficiency in adults with post-acute sequelae of COVID-19. Sleep advances : a journal of the Sleep Research Society. 2025;6(3):zpaf051. doi:10.1093/sleepadvances/zpaf051