MD - University of California, Los Angeles, Los Angeles, CA
Pediatrics - Children's Hospital of Philadelphia, Philadelphia, PA
Translational Research Fellow - Children's Hospital of Philadelphia, Philadelphia, PA
Medical Genetics - Children's Hospital of Philadelphia, Philadelphia, PA
PhD in Human Genetics - University of California, Los Angeles, Los Angeles, CA
Attending Physician
Translational Research Fellow
Klein SD, DeMarchis M, Linn RL, MacFarland SP, Kalish JM. Occurrence of Hepatoblastomas in Patients with Beckwith-Wiedemann Spectrum (BWSp). Cancers (Basel). 2023 Apr 29;15(9):2548.
Klein SD, Nisbet A, Kalish JM. Overgrowth syndromes, diagnosis and management. Curr Opin Pediatr. 2023 Dec 1;35(6):620-630. doi: 10.1097/MOP.0000000000001298. Epub 2023 Oct 4.
Mullegama, S. V., S. D. Klein, S. R. Williams, J. W. Innis, F. J. Probst, C. Haldeman-Englert, J. A. Martinez-Agosto, Y. Yang, Y. Tian, S. H. Elsea and T. Ezashi. Transcriptome analysis of MBD5- associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes. Scientific Reports 11(1): 11295. (2021) 14.
Duffy KA, Hathaway ER, Klein SD, Ganguly A, Kalish JM. Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2. Cold Spring Harb Mol Case Stud. 2021;7(6).
Duffy KA, Hathaway ER, Klein SD, Ganguly A, Kalish JM. Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2. Cold Spring Harb Mol Case Stud. 2021;7(6).
Klein, S.D. & Martinez-Agosto, J.A. Hotspot Mutations in DICER1 Causing GLOW Syndrome- Associated Macrocephaly via Modulation of Specific microRNA Populations Result in the Activation of PI3K/ATK/mTOR Signaling. Microrna 9, 70-80 (2020)
Klein, S.D. et al. Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway. Am J Med Genet A 179, 2517-2531 (2019).
*Mullegama, S.V., *S. D. Klein et al., Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males. Mol Genet Genomic Med, 2018 (*Co-First Author)
Mullegama, S. V., S. D. Klein, D. C. Nguyen, A. Kim, R. Signer, M. Fox, N. Dorrani, A. Hendershot, R. Mardach, R. Suddath, K. Dipple, E. Vilain, D. A. Wong, J. L. Deignan, D. C. S, W. W. Grody and J. A. Martinez-Agosto. "Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?" Genet Med. (2017)
*Mullegama, S.V., *Klein, S.D., Mulatinho, M.V., Senaratne, T.N., Singh, K., Center, U.C.G., Nguyen, D.C., Gallant, N.M., Strom, S.P., Ghahremani, S., et al. De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. Am J Med Genet A. (2017, *Co-First Author)
Klein, S, Goldman, A, Lee, H, Ghahremani, S, Bhakta, V, UCLA Clinical Genomics Center, Nelson, S. F. and Martinez-Agosto, J. A. Truncating mutations in APP cause a distinct neurological phenotype. Ann Neurol., 80: 456–460. doi:10.1002/ana.24727 (2016).
Bramble M. S, Roach L, Lipson A, Vashist N, Eskin A, Ngun T, Goasschalk J. E, Klein S, Barseghyan, Arboleda, V. A, and Vilain E. Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells. Sci. Rep. 6, 36916; doi: 10.1038/srep36916 (2016).
Martinez-Agosto J and Klein S. Referee Report For: Temporal order of RNase IIIb and loss-offunction mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model [v1; ref status: approved with reservations 1, http://f1000r.es/5l9] F1000Research 2015, 4:214 (doi: 10.5256/f1000research.7245.r9442)
Klein S, Lee H, Ghahremani S, Kempert P, Ischander M, Teitell MA, Nelson SF, Martinez-Agosto JA. Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome. J Med Genet 2014;51(5):294-302.
Klein, S, Sharifi-Hannauer, P, & Martinez-Agosto, J. A. 2013. Macrocephaly as a clinical indicator of genetic subtypes in autism. Autism Res, 6(1), 51-56.
Klein S, Stroberg A, Ghahremani S, Martinez-Agosto JA. 2012. Phenotypic progression of skeletal anomalies in cloves syndrome. Am J Med Genet Part A. 158A:1690–1695.
Danzi S, Klein S, Klein I. 2008. Differential regulation of myosin heavy chain genes a and b in the rat atria and ventricles: Role of antisense RNA. Thyroid, 18(7):761-768.
2023, Winner of the David Smith excellence in research platform presentation for trainees
2016, Winner of the David Rimoin Award for Research Excellence in Medical Genetics at the UCLA Human Genetics Department & UCLA Intercampus Medical Genetics Training Program Joint Academic Retreat
2014, Recipient of the Denis Weatherstone Predoctoral fellowship from Autism Speaks
2013, Winner of the Leena Peltonen Award in Research Excellence at UCLA at the UCLA Human Genetics Academic Retreat
2013, 1st place for best poster in the BWF-IT-MD, GATP, SIB joint training grant symposium
2013, Admitted to the Fellowship at Auschwitz for the Study of Professional Ethics (FASPE)
2011, Recipient of the American College of Medical Genetics (ACMG) summer scholarship