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List of works by Steven Klein

De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.

scientific article published on 11 March 2017

Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.

scientific article published on 27 March 2014

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

scientific article published on 21 September 2017

Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism ⬇️

scientific article published on January 29, 2013

Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.

scientific article published on 16 November 2018

Occurrence of Hepatoblastomas in Patients with Beckwith–Wiedemann Spectrum (BWSp)

scientific article published in 2023

Phenotypic progression of skeletal anomalies in CLOVES syndrome

scientific article published on 24 May 2012

Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells

scientific article published on 15 November 2016

Truncating mutations in APP cause a distinct neurological phenotype.

scientific article

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