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. 


Full Publication List via NIH PubMed