Siddharth Srivastava

This study surveys non-genetics departments to assess genetic counselor availability, utilization, and perceived need for neurodevelopmental disorder patients, finding limited integration but high interest in expanding genetic counseling support.

The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.

This paper reviews US professional society guidelines for genetic testing in neurodevelopmental disorders and highlights the need for unified, updated, and accessible cross-specialty guidelines.

This study characterizes the clinical and neurobehavioral features of SETBP1 haploinsufficiency disorder and related disorders, identifying shared and distinct phenotypes between the two conditions.

The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.

The paper identifies a recurrent SHANK3 frameshift variant in Autism Spectrum Disorder, showing de novo mutations and variable expressivity.

The paper describes the clinical, neuroimaging, and molecular features of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability, providing variant interpretation guidelines and carrier frequency estimates.