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List of works by Joseph T Shieh

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy

scientific article published on 27 December 2019

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

scientific article published on 05 June 2020

Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis

scientific article published in 2022

Emerging RAS superfamily conditions involving GTPase function

scientific article published on 14 February 2019

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

scientific article published on 28 March 2019

Genetics workforce: distribution of genetics services and challenges to health care in California

scientific article published on 16 August 2019

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

scientific article published on 01 January 2020

Optimizing genetics online resources for diverse readers

scientific article published on 26 November 2019

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

scientific article published on 01 July 2021

Schimke immunoosseous dysplasia and management considerations for vascular risks

scientific article published on 30 April 2019

Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants

scientific article published on 25 July 2018

X-linked duplication copy number variation in a familial overgrowth condition

scientific article published on 25 November 2019

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