Shaikh TH

Latest

• Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation
• Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish
• The 22q11 low copy repeats are characterized by unprecedented size and structural variability
• X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid
• 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
• Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
• An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
• Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns