SG
Santhosh Girirajan

Elite Scholar

446
Works
13,512
Citations
46
H-Index
Search Authors
Author Statistics
External Links
OpenAlex Profile ORCID Profile

Santhosh Girirajan

Also known as: Girirajan, Santhosh, S Girirajan, S. Girirajan, SANTHOSH GIRIRAJAN, Santhosh D. Girirajan

446

Total Works

13,512

Citations

46

H-Index

88

i10-Index

Citation & Works Trend by Year
23 years active
Top Research Topics
Genomic variations and chromosomal abnormalities (129) Genetics and Neurodevelopmental Disorders (116) Genomics and Rare Diseases (108) Autism Spectrum Disorder Research (43) Genome Rearrangement Algorithms (33)
Recent Publications
15 shown
Year Publication Title Citations Action
2026 Quantifying the impact of genetic mutations on enhancer dynamics Cell Reports 0
2026 Protocol for identifying genetic modifiers of phenotypes in individuals with disease-associated variants STAR Protocols 0
2026 TAR syndrome causal gene RBM8A is critical for embryonic bone development and proper Hedgehog signaling Research Square 0
2026 Functional impact of genetic background on variable expressivity in neurodevelopmental disorders Nature Communications 2
2026 TAR syndrome causal gene RBM8A is critical for embryonic bone development and proper Hedgehog signaling bioRxiv (Cold Spring Harbor Laboratory) 0
2026 Evolutionary instability drives structural diversity and disease susceptibility at the 16p12.2 locus bioRxiv (Cold Spring Harbor Laboratory) 0
2025 Discovery of obesity genes through cross-ancestry analysis Nature Communications 8
2025 Quantifying the impact of genetic mutations on enhancer dynamics bioRxiv (Cold Spring Harbor Laboratory) 0
2025 1 gene, 1 disease no more – acknowledging the full complexity of genetics could improve and personalize medicine 0
2025 Genetic modifiers and ascertainment drive variable expressivity of complex disorders Cell 17
2025 An integrated framework for functional dissection of variable expressivity in genetic disorders medRxiv 2
2025 Expectations for papers performing Mendelian randomization analyses PLoS Genetics 4
2024 Transcriptome signatures of the medial prefrontal cortex underlying GABAergic control of resilience to chronic stress exposure Molecular Psychiatry 8
2024 Discovery of novel obesity genes through cross-ancestry analysis medRxiv 5
2024 Transcriptome signatures of the medial prefrontal cortex underlying GABAergic control of resilience to chronic stress exposure Research Square 0

Data source: OpenAlex API