Avni Santani

Clinical Exome Reanalysis: Current Practice and Beyond

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

Designing and Implementing NGS Tests for Inherited Disorders

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between