Author

Hitesh Hasmukhlal Shah

Manipal Academy of Higher EducationORCID 0000-0002-2940-3108Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Aarti SevilimeduiD· 1 shared Alka V. Ekbote· 1 shared Gandham SriLakshmi BhavaniiD· 1 shared Katta M. GirishaiD· 1 shared Mir Tariq AltafiD· 1 shared Nadia Zipporah Padala· 1 shared Neetu Sharma· 1 shared Raghavender MedishettiiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Aarti SevilimeduORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Biallelic Variants in CCN2 Underlie an Autosomal Recessive Kyphomelic Dysplasia

Swati Singh, Sumita Danda, Neetu Sharma, Hitesh Hasmukhlal Shah, Vrisha Madhuri, Mir Tariq Altaf, Nadia Zipporah Padala, Raghavender Medishetti, Alka V. Ekbote, Gandham SriLakshmi Bhavani, Aarti Sevilimedu, Katta M. Girisha

This study identifies biallelic CCN2 variants as the cause of autosomal recessive kyphomelic dysplasia through clinical, genetic, and zebrafish model analyses.

medRxiv · Apr 5, 2024 · PreprintGenetic & Genomic Medicine