StevenDanielKleinMDPhD

PubMed

• 4 citations
  Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.
  Sureni V. Mullegama, Steven D Klein, Stephen R. Williams, Jeffrey W. Innis, Frank J. Probst, Chad R. Haldeman-Englert, Julian A. Martinez-Agosto, Ying Yang, Yuchen Tia...> ;Scientific Reports. 2021 May 28
• 16 citations
  Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.
  Steven D Klein, Dzung C Nguyen, Viraj Bhakta, Derek Wong, Vivian Y. Chang, Tom B. Davidson, Julian A. Martinez-Agosto> ;American Journal of Medical Genetics. Part A. 2019 Oct 22
• 10 citations
  Hotspot Mutations in DICER1 Causing GLOW Syndrome-Associated Macrocephaly via Modulation of Specific microRNA Populations Result in the Activation of PI3K/ATK/mTOR Sig...
  Steven D Klein, Julian A. Martinez-Agosto> ;Microrna. 2019 Feb 17
• 24 citations
  Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males
  Sureni V. Mullegama, Steven D Klein, Rebecca Signer, Eric Vilain, Julian A. Martinez-Agosto> ;Molecular Genetics & Genomic Medicine. 2019 Feb 1
• 14 citations
  Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?
  Sureni V. Mullegama, Steven D Klein, Dzung C Nguyen, Arang Kim, Rebecca Signer, Michelle Fox, Naghmeh Dorrani, Andrea Hendershot, Rebecca Mardach, Robert Suddath, Katr...> ;Genetics in Medicine. 2017 Sep 21
• 33 citations
  De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies.
  Sureni V. Mullegama, Steven D Klein, Milene V. Mulatinho, Tharanga Niroshini Senaratne, Kathryn E. Singh, Dzung C Nguyen, Natalie M. Gallant, Samuel P. Strom, Shahnaz ...> ;American Journal of Medical Genetics. Part A. 2017 Mar 11
• 29 citations
  Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells.
  Matthew S. Bramble, Lara Roach, Allen Lipson, Neerja Vashist, Ascia Eskin, Tuck Ngun, Jason E. Gosschalk, Steven D Klein, Hayk Barseghyan, Valerie A. Arboleda, Eric Vi...> ;Scientific Reports. 2016 Nov 15
• 14 citations
  Truncating mutations in APP cause a distinct neurological phenotype
  Steven D Klein, Alexander Goldman, Hane Lee, Shahnaz Ghahremani, Viraj Bhakta, Stanley F. Nelson, Julian A. Martinez-Agosto> ;Annals of Neurology. 2016 Sep 1
• 52 citations
  Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome
  Steven D Klein, Hane Lee, Shahnaz Ghahremani, Pamela Kempert, Mariam Ischander, Michael A. Teitell, Stanley F. Nelson, Julian A. Martinez-Agosto> ;Journal of Medical Genetics. 2014 Mar 27
• 63 citations
  Macrocephaly as a clinical indicator of genetic subtypes in autism.
  Steven D Klein, Pantea Sharifi-Hannauer, Julian A. Martinez-Agosto> ;Autism Research. 2013 Feb 1
• 12 citations
  Phenotypic progression of skeletal anomalies in CLOVES syndrome.
  Steven D Klein, Albert Stroberg, Shahnaz Ghahremani, Julian A. Martinez-Agosto> ;American Journal of Medical Genetics. Part A. 2012 Jul 1
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