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List of works by Tamim H Shaikh

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

scientific article

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics

scientific article

Copy number variation at 1q21.1 associated with neuroblastoma

scientific article

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.

scientific article published on May 2016

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

scientific article published on 10 July 2009

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

scientific article

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

scientific article published on 18 March 2015

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation

scientific article published on March 2009

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