Author

M. Singh

h-index 0 View on Semantic Scholar

We have 2 of 2 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Open access Oct 2026

Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology

Abstract INTRODUCTION Despite major advances in genomic sequencing and analytical pipelines for rare disorders, more than 50% of affected individuals remain without a molecular diagnosis. One challenge is the interpretation of inherited variants exhibiting incomplete penetrance (IP). MATERIALS AND METHODS We developed...

M. Singh, S. Stenton, E. Groopman et al. · medRxiv · 0 citations

Open access Aug 2026

Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes.

Using patient-derived iPSCs and multi-omics profiling, it is demonstrated that early-truncating variants cause loss-of-function via nonsense-mediated decay (NMD), while late-truncating variants that escape NMD cause gain-of-function effects.

Aileen A. Nava, Yunier Pérez-Rodríguez, T.-C. Hsieh et al. · medRxiv · 0 citations