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Page 1
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency.
Sacharow SJ, Picker JD, Levy HL. Sacharow SJ, et al. Among authors: picker jd. 2004 Jan 15 [updated 2017 May 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2004 Jan 15 [updated 2017 May 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301697 Free Books & Documents. Review.
Revising the Psychiatric Phenotype of Homocystinuria.
Almuqbil MA, Waisbren SE, Levy HL, Picker JD. Almuqbil MA, et al. Among authors: picker jd. Genet Med. 2019 Aug;21(8):1827-1831. doi: 10.1038/s41436-018-0419-4. Epub 2019 Jan 15. Genet Med. 2019. PMID: 30643218 Free article.
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
Schmitz-Abe K, Li Q, Rosen SM, Nori N, Madden JA, Genetti CA, Wojcik MH, Ponnaluri S, Gubbels CS, Picker JD, O'Donnell-Luria AH, Yu TW, Bodamer O, Brownstein CA, Beggs AH, Agrawal PB. Schmitz-Abe K, et al. Among authors: picker jd. Eur J Hum Genet. 2019 Sep;27(9):1398-1405. doi: 10.1038/s41431-019-0401-x. Epub 2019 Apr 12. Eur J Hum Genet. 2019. PMID: 30979967 Free PMC article.
Expanding the phenotypic spectrum associated with OPHN1 variants.
Schwartz TS, Wojcik MH, Pelletier RC, Edward HL, Picker JD, Holm IA, Towne MC, Beggs AH, Agrawal PB. Schwartz TS, et al. Among authors: picker jd. Eur J Med Genet. 2019 Feb;62(2):137-143. doi: 10.1016/j.ejmg.2018.06.015. Epub 2018 Jun 28. Eur J Med Genet. 2019. PMID: 29960046 Free PMC article.
21 results