Anirban Majumdar

发表

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

Sita D Gupta, Lucy Feng, P. Mohassel, 2023, Journal of neurology, neurosurgery, and psychiatry.

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

A. Pagnamenta, C. Shaw-Smith, N. Canham, 2024, American journal of human genetics.