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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Lake NJ, Webb BD, Stroud DA, et al. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. Am J Hum Genet. 2017;101(2):239-254. doi:10.1016/j.ajhg.2017.07.005

Resolving medulloblastoma cellular architecture by single-cell genomics.

Hovestadt V, Smith KS, Bihannic L, et al. Resolving medulloblastoma cellular architecture by single-cell genomics. Nature. 2019;572(7767):74-79. doi:10.1038/s41586-019-1434-6

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Waszak SM, Northcott PA, Buchhalter I, et al. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. Lancet Oncol. 2018;19(6):785-798. doi:10.1016/S1470-2045(18)30242-0

High reliability in respiratory rate assessment in children with respiratory symptomatology in a rural area in Mozambique.

Lanaspa M, Valim C, Acácio S, et al. High reliability in respiratory rate assessment in children with respiratory symptomatology in a rural area in Mozambique. J Trop Pediatr. 2014;60(2):93-8. doi:10.1093/tropej/fmt081

Expanding the phenotype of GMPPB mutations.

Cabrera-Serrano M, Ghaoui R, Ravenscroft G, et al. Expanding the phenotype of GMPPB mutations. Brain. 2015;138(Pt 4):836-44. doi:10.1093/brain/awv013

Trends in patterns of dengue transmission over 4 years in a pediatric cohort study in Nicaragua.

Balmaseda A, Standish K, Mercado JC, et al. Trends in patterns of dengue transmission over 4 years in a pediatric cohort study in Nicaragua. J Infect Dis. 2010;201(1):5-14. doi:10.1086/648592

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

Dauber A, Golzio C, Guenot C, et al. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. Am J Hum Genet. 2013;93(5):798-811. doi:10.1016/j.ajhg.2013.09.010

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.

Leoni V, Strittmatter L, Zorzi G, et al. Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations. Mol Genet Metab. 2012;105(3):463-71. doi:10.1016/j.ymgme.2011.12.005

Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33.

Rioux JD, Stone VA, Daly MJ, et al. Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33. Am J Hum Genet. 1998;63(4):1086-94. doi:10.1086/302053

Genomewide search and association studies in a Finnish celiac disease population: Identification of a novel locus and replication of the HLA and CTLA4 loci.

Rioux JD, Karinen H, Kocher K, et al. Genomewide search and association studies in a Finnish celiac disease population: Identification of a novel locus and replication of the HLA and CTLA4 loci. Am J Med Genet A. 2004;130A(4):345-50. doi:10.1002/ajmg.a.30072