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Metabolite diagnosis of primary hyperoxaluria type 3.
Greed L, Willis F, Johnstone L, Teo S, Belostotsky R, Frishberg Y, Pitt J. Greed L, et al. Among authors: pitt j. Pediatr Nephrol. 2018 Aug;33(8):1443-1446. doi: 10.1007/s00467-018-3967-6. Epub 2018 Apr 28. Pediatr Nephrol. 2018. PMID: 29705963
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
Godler DE, Ling L, Gamage D, Baker EK, Bui M, Field MJ, Rogers C, Butler MG, Murgia A, Leonardi E, Polli R, Schwartz CE, Skinner CD, Alliende AM, Santa Maria L, Pitt J, Greaves R, Francis D, Oertel R, Wang M, Simons C, Amor DJ. Godler DE, et al. Among authors: pitt j. JAMA Netw Open. 2022 Jan 4;5(1):e2141911. doi: 10.1001/jamanetworkopen.2021.41911. JAMA Netw Open. 2022. PMID: 34982160 Free PMC article.
Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.
Donoghue SE, Pitt JJ, Boneh A, White SM. Donoghue SE, et al. Among authors: pitt jj. J Pediatr Endocrinol Metab. 2018 Mar 28;31(4):451-459. doi: 10.1515/jpem-2017-0501. J Pediatr Endocrinol Metab. 2018. PMID: 29455191 Free article.
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
Simon MT, Eftekharian SS, Ferdinandusse S, Tang S, Naseri T, Reupena MS, McGarvey ST, Minster RL, Weeks DE; Samoan Obesity, Lifestyle, and Genetic Adaptations (OLaGA) Study Group; Nguyen DD, Lee S, Ellsworth KA, Vaz FM, Dimmock D, Pitt J, Abdenur JE. Simon MT, et al. Among authors: pitt j. Am J Med Genet A. 2021 Jan;185(1):157-167. doi: 10.1002/ajmg.a.61936. Epub 2020 Oct 28. Am J Med Genet A. 2021. PMID: 33112498 Free PMC article.
543 results