Nori Williams Richen, MS, CGC

She/Her

Education: B.S., Integrative Neuroscience, Binghamton University, 2012. M.S., Human Genetics, Sarah Lawrence College, 2016.

Areas of Expertise: Cardiovascular Genetics, Cancer Genetics, Pharmacogenomics, DTC

Licenses: CA, DE, IA, IL, PA, TN, and VA

Affiliations and Disclosures: Clinical Variant Scientist at Variantyx

Biography: Nori has over 5 years of experience in clinical and non-clinical hybrid roles. She was the first genetic counselor to work at a medical examiner’s office in the country, at Office of Chief Medical Examiner of the City of New York, assisting with interpretation of cardiovascular genetic variants and counseling families impacted by sudden deaths due to underlying cardiomyopathies and arrhythmias. She also acted as a senior manager of genetics services at EvelyHealth facilitating access to consumer-initiated genetic testing and leading the genetics department in the areas of cardiovascular and cancer genetics. Nori is the past-president of the New York State Genetics Task Force, and Co-Chair of NSGC’s Lab and Industry SIG.

Features:

“Making Sense of a Senseless Death” – Patient Storie s Podcast | “Hello February: Heart Month from the Perspective of a Cardiovascular Genetic Counselor – Grey Genetics News Corner

Publications & Presentations:

Williams N, Maderski E, Stewart S, et al. “Lessons learned from testing cardiac channelopathy and cardiomyopathy genes in individuals who died suddenly: A two‐year prospective study in a large medical examiner’s office with an in‐house molecular genetics laboratory and genetic counseling services.” August 22, 2019. Journal of Genetic Counseling.
Gando I, Williams N, Fishman GI, Sampson BA, Tang Y, Coetzee WA. Functional characterization of SCN10A variants in several cases of sudden unexplained death. Forensic Sci Int. 2019;301:289-98.
Subbotina E, Yang HQ, Gando I, Williams N, Sampson BA, Tang Y, Coetzee WA. Functional characterization of ABCC9 variants identified in sudden unexpected natural death. Forensic Sci Int. 2019; 298:80-87.
Dong J, Subbotina E, Williams N, Sampson BA, Tang Y, Coetzee WA. Functional reclassification of variants of uncertain significance in the HCN4 gene identified in sudden unexpected death. Pacing Clin Electrophysiol. 2019;42:275-282.
Tang Y, Williams N, Sampson B. Genetic testing in sudden unexpected natural death in the young: New York City Office of Chief Medical Examiner’s experience and perspective. Forensic Sci Med Pathol. 2018 Dec 7. doi:10.1007/s12024-018-0068-6
Jingyun Dong, et. Al. Molecular autopsy: using the discovery of a novel de novo pathogenic variant in the KCNH2 gene to inform healthcare of surviving family. Heliyon. 2018 Dec 8;4(12):e01015.
Tang Y, Williams N. “The Molecular Autopsy.” Medical Legal Handbook. Ed. Jennifer L. Hammers, Ed. Robert P. Fitzsimmons. New York: Juris Publishing, Inc, 2018. 175-185. Print.
Subbotina E, Williams N, Sampson B, Tang Y, Coetzee W. Functional Characterization of TRPM4 variants Identified in Sudden Unexpected Natural Death. Forensic Sci Int. 2018 Dec;293:37-46.
Williams N, et Al. Phenotypic Variations in Carriers of Predicted Protein-truncating Genetic Variants in MYBPC3: An autopsy-based Case Series. Cardiovasc Pathol. Nov–Dec 2018, 37, 30-33
Lin Y, et. Al. Applying High-Resoluation Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths. Circ Genetics. Dec 2017, 10(6)