Author

Gaganjot Kaur

Hospital for Sick ChildrenORCID 0000-0001-7101-3990Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 2 Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-genome sequencing· 3 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Bhooma ThiruvahindrapuramiD· 3 shared Zhuozhi WangiD· 3 shared Giovanna PellecchiaiD· 2 shared Jennifer Howe· 2 shared Joe WhitneyiD· 2 shared Jonathan L. SebatiD· 2 shared Ryan K. C. YueniD· 2 shared Stephen W. SchereriD· 2 shared

Activity by Year

2018-2022 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Bhooma ThiruvahindrapuramORCID

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Author profile →

4 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 5, 2022

Genomic architecture of autism spectrum disorder from comprehensive whole-genome sequence annotation

Brett Trost, Bhooma Thiruvahindrapuram, Ada J. S. Chan…·Evdokia A. Anagnostou

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.

3 citations

humanwhole-genome sequencing

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NeuroscienceStem Cell ReportsPeer-reviewedNov 1, 2018

Complete Disruption of Autism-Susceptibility Genes by Gene-Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

Éric Deneault, Sean H. White, Deivid C. Rodrigues…·Stephen W. Scherer

This study uses CRISPR to knockout 10 ASD-related genes in iPSCs, revealing reduced functional connectivity in neurons despite diverse gene functions.

145 citationstop 1%

humanbulk RNA-seq

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GenomicsNature GeneticsPeer-reviewedOct 29, 2018

Comparative genomics of the major parasitic worms

Avril Coghlan, James Anthony Cotton, Nancy E. Holroyd…·Lian-Chen Wang

This paper compares genomes of 81 nematode and platyhelminth species to identify gene families related to parasitism and prioritize new drug targets.

562 citationstop 1%

whole-genome sequencingstatistical model

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GenomicsSciencePeer-reviewedApr 20, 2018

Paternally inherited noncoding structural variants contribute to autism

William M. Brandler, Danny Antaki, Madhusudan Gujral…·Jonathan L. Sebat

This study identifies rare paternally-inherited structural variants contributing to autism by disrupting noncoding regions and coding genes, with differential parental contributions.

209 citationstop 1%

humanwhole-genome sequencing

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