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List of works by Swaroop Aradhya

A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity ⬇️

scientific article published on August 30, 2012

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities ⬇️

scientific article published on September 1, 2011

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia ⬇️

scientific article published on November 4, 2010

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders ⬇️

scientific article published on 01 March 2012

Genetics in mainstream medicine: Finally within grasp to influence healthcare globally

article

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay ⬇️

scientific article published on December 21, 2011

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes ⬇️

scientific article (publication date: 15 October 2001)

Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome ⬇️

scientific article published on March 12, 2013

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

scientific article published on 01 July 2019

Towards an evidence‐based process for the clinical interpretation of copy number variation ⬇️

scientific article published on December 13, 2011

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