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Greig Cephalopolysyndactyly Syndrome.
Biesecker LG, Johnston JJ. Biesecker LG, et al. Among authors: johnston jj. 2001 Jul 9 [updated 2024 Feb 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2001 Jul 9 [updated 2024 Feb 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301619 Free Books & Documents. Review.
Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.
Smail C, Ge B, Keever-Keigher MR, Schwendinger-Schreck C, Cheung W, Johnston JJ, Barrett C; Genomic Answers for Kids Consortium; Feldman K, Cohen ASA, Farrow EG, Thiffault I, Grundberg E, Pastinen T. Smail C, et al. Among authors: johnston jj. medRxiv [Preprint]. 2024 Jan 11:2024.01.10.24301111. doi: 10.1101/2024.01.10.24301111. medRxiv. 2024. PMID: 38260377 Free PMC article. Preprint.
Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.
Bönnemann CG, Krishnamoorthy KS, Johnston JJ, Lee MM, Fowler DJ, Biesecker LG, Holmes LB. Bönnemann CG, et al. Among authors: johnston jj. Am J Med Genet A. 2023 Sep;191(9):2337-2343. doi: 10.1002/ajmg.a.63306. Epub 2023 Jul 12. Am J Med Genet A. 2023. PMID: 37435845
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
Cheung WA, Johnson AF, Rowell WJ, Farrow E, Hall R, Cohen ASA, Means JC, Zion TN, Portik DM, Saunders CT, Koseva B, Bi C, Truong TK, Schwendinger-Schreck C, Yoo B, Johnston JJ, Gibson M, Evrony G, Rizzo WB, Thiffault I, Younger ST, Curran T, Wenger AM, Grundberg E, Pastinen T. Cheung WA, et al. Among authors: johnston jj. Nat Commun. 2023 May 29;14(1):3090. doi: 10.1038/s41467-023-38782-1. Nat Commun. 2023. PMID: 37248219 Free PMC article.
192 results