Desnick RJ - Search Results

1

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Seo GH, Kim T, Choi IH, Park JY, Lee J, Kim S, Won DG, Oh A, Lee Y, Choi J, Lee H, Kang HG, Cho HY, Cho MH, Kim YJ, Yoon YH, Eun BL, Desnick RJ, Keum C, Lee BH. Seo GH, et al. Among authors: desnick rj. Clin Genet. 2020 Dec;98(6):562-570. doi: 10.1111/cge.13848. Epub 2020 Sep 17. Clin Genet. 2020. PMID: 32901917 Free PMC article.

2

Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.

Rosti RO, Uyguner ZO, Nazarenko I, Bekerecioglu M, Cadilla CL, Ozgur H, Lee BH, Aggarwal AK, Pehlivan S, Desnick RJ. Rosti RO, et al. Among authors: desnick rj. Clin Genet. 2015 Nov;88(5):489-493. doi: 10.1111/cge.12539. Epub 2014 Dec 11. Clin Genet. 2015. PMID: 25410422 Free PMC article.

3

X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.

Brancaleoni V, Balwani M, Granata F, Graziadei G, Missineo P, Fiorentino V, Fustinoni S, Cappellini MD, Naik H, Desnick RJ, Di Pierro E. Brancaleoni V, et al. Among authors: desnick rj. Clin Genet. 2016 Jan;89(1):20-6. doi: 10.1111/cge.12562. Epub 2015 Feb 17. Clin Genet. 2016. PMID: 25615817 Free PMC article.

4

Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).

Weaver DD, Norby AR, Rosenfeld JA, Proud VK, Spangler BE, Ming JE, Chisholm E, Zackai EH, Lee BH, Edelmann L, Desnick RJ. Weaver DD, et al. Among authors: desnick rj. Am J Med Genet A. 2015 May;167A(5):1061-70. doi: 10.1002/ajmg.a.36973. Epub 2015 Feb 27. Am J Med Genet A. 2015. PMID: 25728400

5

Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.

Lee BH, Kasparis C, Chen B, Mei H, Edelmann L, Moss C, Weaver DD, Desnick RJ. Lee BH, et al. Among authors: desnick rj. J Hum Genet. 2015 Nov;60(11):717-22. doi: 10.1038/jhg.2015.103. Epub 2015 Aug 27. J Hum Genet. 2015. PMID: 26311541

6

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.

Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ. Lee BH, et al. Among authors: desnick rj. J Med Genet. 2017 Sep;54(9):585-590. doi: 10.1136/jmedgenet-2017-104561. Epub 2017 Jun 29. J Med Genet. 2017. PMID: 28663233 Review.

7

Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.

Heo SH, Kang E, Kim YM, Go H, Kim KY, Jung JY, Kang M, Kim GH, Kim JM, Choi IH, Choi JH, Jung SC, Desnick RJ, Yoo HW, Lee BH. Heo SH, et al. Among authors: desnick rj. J Med Genet. 2017 Nov;54(11):771-780. doi: 10.1136/jmedgenet-2017-104704. Epub 2017 Aug 23. J Med Genet. 2017. PMID: 28835480 Free PMC article.

8

Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.

Lee BH, Morice-Picard F, Boralevi F, Chen B, Desnick RJ. Lee BH, et al. Among authors: desnick rj. J Hum Genet. 2018 Mar;63(3):257-261. doi: 10.1038/s10038-017-0375-x. Epub 2017 Dec 20. J Hum Genet. 2018. PMID: 29263414

9

Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017.

Doheny D, Srinivasan R, Pagant S, Chen B, Yasuda M, Desnick RJ. Doheny D, et al. Among authors: desnick rj. J Med Genet. 2018 Apr;55(4):261-268. doi: 10.1136/jmedgenet-2017-105080. Epub 2018 Jan 12. J Med Genet. 2018. PMID: 29330335

10

Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.

Chen CH, Astrin KH, Lee G, Anderson KE, Desnick RJ. Chen CH, et al. Among authors: desnick rj. J Clin Invest. 1994 Nov;94(5):1927-37. doi: 10.1172/JCI117543. J Clin Invest. 1994. PMID: 7962538 Free PMC article.

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