Mythily Ganapathi

11PUBLICATIONS
64CO-AUTHORS
Psychology of ageingGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Medical mycologyDevelopmental genetics (incl. sex determination)
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Publications (11)

|Nov 28, 2025
A Rare Missense Variant in TNPO2 in an Individual With a Neurodevelopmental Disability.

Ryan Cohen, Mythily Ganapathi, Alban Ziegler

|Oct 24, 2025
A Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case Report.

Catherine Kentros, Wendy K Chung, Mythily Ganapathi

|Aug 28, 2025
Machine learning-based penetrance of genetic variants.

Iain S Forrest, Ha My T Vy, Ghislain Rocheleau

|Jul 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Mythily Ganapathi, Leticia S Matsuoka, Michael March

|Apr 09, 2023
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.

Amanda Thomas-Wilson, John P Schacht, David Chitayat

|Oct 31, 2022
A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome.

Mythily Ganapathi, Christie M Buchovecky, Fernando Cristo

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