Author
Kuldeep Kumar
Centre Hospitalier Universitaire Sainte-JustineORCID 0000-0003-3313-135XUnclaimed ORCID profile · follow to get notified of new preprints
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Biology Disciplines
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2018-2026 · peak 5/yrCo-Author Collaboration Network
10 top collaborators · 45 mutual co-author linksMutual co-authors in cluster
18 papers
Recent·Most cited
- BioinformaticsbioRxivPreprint
gVCF2CNV: a scalable pipeline for CNV detection from whole-genome sequencing data
Mame Seynabou Diop, Florian Bénitière, Kuldeep Kumar…·Sébastien Jacquemont
gVCF2CNV converts gVCF files into CNV-compatible signals for large-scale WGS cohorts, achieving high precision in detecting deletions and duplications.
DOI 10.64898/2026.09.02.748565 - Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
Determinants of functional burden pleiotropy and gene dosage responses across human traits
Sayeh Kazem, Kuldeep Kumar, Jane Yang…·Sébastien Jacquemont
The paper develops FunBurd to analyze gene dosage effects on 43 traits in UK-Biobank, finding pleiotropy and non-monotonic responses linked to genetic constraint and brain-specific mechanisms.
3 citations - GeneticsbioRxivPreprint
MCNV2 (Mendelian CNV Validation): Mendelian Precision for CNV quality assessment
Mame Seynabou Diop, Audrey Lemaçon, Kuldeep Kumar…·Sébastien Jacquemont
MCNV2 assesses CNV quality using Mendelian Precision, offering tools to compute, explore, and optimize CNV call accuracy in parent-offspring trios.
DOI 10.64898/2026.04.29.721462 - NeurosciencebioRxivPreprint
Genetic insights on the mechanisms of human cortical folding
William Snyder, Rebecca Shafee, Siyuan Liu…·Armin Raznahan
This study identifies genetic maps of human sulcal complexity using rare and common variants, revealing new mechanistic pathways for cortical morphogenesis.
1 citation - Genetic & Genomic MedicinemedRxivPreprint
Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects
Worrawat Engchuan, Omar Shanta, Kuldeep Kumar…·Michael Foster Green
The paper identifies shared and divergent genetic mechanisms across psychiatric disorders using gene-set burden analysis of copy number variants.
4 citations - NeurosciencebioRxivPreprint
Genomic deletion and duplication effects on cognitive ability lie at the opposing ends of the cortical sensorimotor-association hierarchy
Kuldeep Kumar, Sayeh Kazem, Jane Yang…·Sébastien Jacquemont
The paper develops a method to analyze genomic deletions and duplications across the cerebral cortex and finds opposing effects on cognitive ability depending on gene expression patterns in different cortical regions.
3 citations - GeneticsCell GenomicsPeer-reviewed
Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes
Guillaume Huguet, Thomas Renne, Cécile Poulain…·Sébastien Jacquemont
The paper identifies a CNV duplication associated with higher cognitive ability and shows gene-dosage effects differ between deletions and duplications across biological processes.
8 citations - NeuroscienceBiological PsychiatryPeer-reviewed
Unique functional neuroimaging signatures of genetic versus clinical high risk for psychosis
Charles H. Schleifer, Sarah E. Chang, Carolyn Amir…·Carrie E. Bearden
The paper compares functional brain measures between 22qDel and CHR cohorts, finding distinct patterns of connectivity and variability disruptions.
- Genetic & Genomic MedicinemedRxivPreprint
High-effect gene-coding variants impact cognition, mental well-being, and neighborhood safety substrates in brain morphology
Jakub Kopál, Guillaume Huguet, Justin Marotta…·Danilo Bzdok
The paper investigates the impact of rare high-effect genetic variants on brain morphology and related behavioral traits in adolescents using the ABCD cohort.
1 citation - NeuroscienceNature CommunicationsPeer-reviewed
Using rare genetic mutations to revisit structural brain asymmetry
Jakub Kopál, Kuldeep Kumar, Kimia Shafighi…·Danilo Bzdok
The paper investigates how rare genetic mutations affect brain asymmetry by analyzing CNVs in a cohort of individuals and linking genetic alterations to brain structure and function.
10 citations - Genetic & Genomic MedicineAmerican Journal of PsychiatryPeer-reviewed
Subcortical brain alterations in carriers of genomic copy number variants
Kuldeep Kumar, Claudia Modenato, Clara A. Moreau…·Sébastien Jacquemont
This study examines subcortical brain alterations in CNV carriers across multiple neuropsychiatric disorders, finding shared and distinct patterns of structural changes.
26 citationstop 4% - GeneticsbioRxivPreprint
Rare CNVs and phenome-wide profiling: a tale of brain-structural divergence and phenotypical convergence
Jakub Kopál, Kuldeep Kumar, Karin Saltoun…·Danilo Bzdok
The paper investigates how eight rare CNVs affect brain structure and phenotypes across 534 carriers, finding structural divergence and phenotypic convergence despite different genetic origins.
3 citations - Genetic & Genomic MedicinemedRxivPreprint
Atlas of functional connectivity relationships across rare and common genetic variants, traits, and psychiatric conditions
Clara A. Moreau, Kuldeep Kumar, Annabelle Harvey…·Sébastien Jacquemont
The paper examines how rare and common genomic variants affect brain functional connectivity, revealing how polygenicity and pleiotropy influence psychiatric conditions and brain networks.
- Genetic & Genomic MedicineBiological PsychiatryPeer-reviewed
The general impact of haploinsufficiency on brain connectivity underlies the pleiotropic effect of neuropsychiatric CNVs
Clara A. Moreau, Guillaume Huguet, Sebastian Georg Wenzel Urchs…·Sébastien Jacquemont
Neuropsychiatric CNVs reorganize brain connectivity along shared patterns linked to cognitive traits and disorder severity.
- NeuroscienceNature CommunicationsPeer-reviewed
Neuropsychiatric mutations delineate functional brain connectivity dimensions contributing to autism and schizophrenia
Clara A. Moreau, Sebastian Georg Wenzel Urchs, Kuldeep Kumar…·Sébastien Jacquemont
The paper examines how CNVs in 16p11.2 and 22q11.2 affect functional brain connectivity in neuropsychiatric disorders, identifying shared dysconnectivity patterns across ASD, SZ, and deletions.
- Genetic & Genomic MedicinemedRxivPreprint
Neuropsychiatric copy number variants exert shared effects on human brain structure
Claudia Modenato, Kuldeep Kumar, Clara A. Moreau…·Sébastien Jacquemont
The paper examines the effects of neuropsychiatric CNVs on brain structure using neuroimaging data and identifies shared anatomical patterns across multiple CNVs.
- NeuroscienceNeuroImagePeer-reviewed
Multi-modal brain fingerprinting: a manifold approximation based framework
Kuldeep Kumar, Matthew Toews, Laurent Chauvin…·Christian Desrosiers
This paper introduces a manifold approximation framework for generating brain fingerprints from multi-modal data, showing that multi-modal fingerprints are more discriminative and genetically informative than single-modal ones.