Tamim H. Shaikh

Multi-modal investigation of the schizophrenia-associated 3q29 genomic interval reveals global genetic diversity with unique haplotypes and segments that increase the risk for non-allelic homologous recombination

The paper investigates the 3q29 genomic region, identifying novel haplotypes and breakpoint segments associated with deletion and duplication syndromes, and categorizes cases into distinct classes.

Genome-wide Copy Number Variations in a Large Cohort of Bantu African Children

This study identifies over 400,000 CNVs in 3400 Bantu African children, highlighting common CNVs overlapping disease-associated genes and providing a large dataset for African ancestry CNV research.

Human-specific expansion of 22q11.2 low copy repeats

The paper investigates the inter- and intra-species variability of LCR22s in non-human primates and finds that LCR22 expansions are unique to humans.

Genome mapping resolves structural variation within segmental duplications associated with microdeletion/microduplication syndromes

The paper presents a high-throughput optical mapping technique to genotype structural variation in segmental duplications, identifying novel variants and refining breakpoints in microdeletion syndromes across diverse populations.

The role of Kabuki Syndrome genes KMT2D and KDM6A in development: Analysis in Human sequencing data and compared to mice and zebrafish

The paper identifies transcriptional targets of KMT2D and KDM6A in Kabuki Syndrome patients and compares their effects across human, mouse, and zebrafish datasets.

Abnormal expression of GABAA receptor sub-units and hypomotility upon loss of gabra1 in zebrafish.

The paper identifies a GABRA1 mutation in a patient with seizures, creates a zebrafish model to study its effects, and shows hypomotility and subunit expression defects.

The 22q11 low copy repeats are characterized by unprecedented size and structure variability

The paper characterizes the structural variability of 22q11 low copy repeats (LCRs) using optical and Bionano mapping, revealing high haplotype diversity and population-specific differences.