M. Anwar Iqbal

TL;DR: It is demonstrated that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16.

TL;DR: This work proposes CHRM3 as a candidate gene responsible for a 3 ½ year old male patient diagnosed with autistic disorder who has social withdrawal, eating problems, repetitive stereotypic behaviors including self-injurious head banging and hair pulling, and no seizures, anxiety, or mood swings.

TL;DR: Combined array analysis has considerable diagnostic yield in detecting cryptic chromosomal aberrations in MDS and in demonstrating aberrant clonal hematopoiesis in cytopenic patients with indeterminate morphologic dysplasia.

TL;DR: Analysis of primary lung tissue from an infant with classic clinical and histological findings of ACDMPV and epigenetic landscape assessments suggest that the deletion disrupts an enhancer responsible for directing FOXF1 expression in the developing lung, provide novel insights into the mechanisms underlying a fatal developmental lung disorder.

TL;DR: The Cancer Genomics Consortium (CGC) working groups in collaboration with the Mayo Clinic Genomics of Oncology Annotation Team (GOAT) have curated myeloid neoplasms and breast cancer gene lists with vetted annotation as mentioned in this paper .