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Elena Kessler, MS, CGC
- Genetic Counselor
Professional and Scientific Society Memberships
- National Society of Genetic Councelors
Education & Training
- BS, Biology, Westminster College, 2008
- MS, Genetic Counseling, University of Pittsburgh, 2010
Selected Publications
Ernst ME, Baugh EH, Madan-Khetarpal S, Infante E, et al. (2021) CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia.
Marbach F, Schaaf C, Sklirou E, Kessler E, et al. (2021) Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia and insensitivity to pain. Genetics in Medicine.
Hansen A, Madan-Khetarpal S, Infante E, et al. (2020) Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases. Human Mutation. 41(12): 2094-2104.
Johnson BV, Kumar R, Madan-Khetarpal S, Infante E, et al. (2020) Partial loss of USP9X function leads to a male neurodevelopmental and behavioural disorder converging on TGFβ signalling. Biol Psychiatry. 15;87(2): 100-112.
Nielsen M, Infante E, Brand R. MUTYH Polyposis. 2012 Oct 4 [Updated 2019 Oct 10]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK107219/
Venier RE, Maurer LM, Kessler E, et al. (2019) A germline BARD1 mutation in Ewing Sarcoma: implications for familial testing and counseling. Peds Blood & Cancer. 66(9):e27824.
Aarabi M, Kessler E, Madan-Khetarpal S, Yatsenko S et al. (2018) Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation. EJMG. S1769-7212(18)30285-4.
Marcogliese P, Shashi V, Ortiz D, Infante E et al. (2018) IRF2BPL Is Associated with Neurological Phenotypes. AJHG. 103(2): 245-260.
Van Dijck A, et al. (2018) Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP. Biological Psychiatry. ADNP consortium member and contributor.
Bostwick B, McLean S, Madan-Khetarpal S, Infante E, et al. (2017) Phenotypic and Molecular Characterization of CDK13-Related Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders. Genome Medicine. 14;9(1): 73-81.
