Genetic models and ASTN1 variant contributions to neurodevelopmental disorders via deficits in astrotactin-mediated neuronal migration Read more about Genetic models and ASTN1 variant contributions to neurodevelopmental disorders via deficits in astrotactin-mediated neuronal migration
Genomic analyses of 317 consanguineous kindreds from the Middle East and North Africa facilitate the discovery of novel autosomal recessive neurodevelopmental rare disease traits Read more about Genomic analyses of 317 consanguineous kindreds from the Middle East and North Africa facilitate the discovery of novel autosomal recessive neurodevelopmental rare disease traits
CSTB null disease demonstrates the exquisite dosage sensitivity of cystatin B in humans Read more about CSTB null disease demonstrates the exquisite dosage sensitivity of cystatin B in humans
Technical and ethical considerations and guidelines for return of RNA-seq results for rare disease research participants Read more about Technical and ethical considerations and guidelines for return of RNA-seq results for rare disease research participants
Investigating the genetic etiologies underlying septo-optic dysplasia (SOD) Read more about Investigating the genetic etiologies underlying septo-optic dysplasia (SOD)
A variety of molecular mechanisms cause copy number gains at 17p11.2 locus causing Potocki-Lupski syndrome: understanding patients with CNVs that do not include RAI1 Read more about A variety of molecular mechanisms cause copy number gains at 17p11.2 locus causing Potocki-Lupski syndrome: understanding patients with CNVs that do not include RAI1
A multi-omics approach improves the diagnosis and understanding of inborn errors of immunity Read more about A multi-omics approach improves the diagnosis and understanding of inborn errors of immunity
Using Multiplexed Functional Data to Reduce Variant Classification Disparities in Populations Underrepresented in Genomic Medicine Read more about Using Multiplexed Functional Data to Reduce Variant Classification Disparities in Populations Underrepresented in Genomic Medicine
Functional assessment of Dishevelled pathogenic variants in Robinow syndrome Read more about Functional assessment of Dishevelled pathogenic variants in Robinow syndrome
Novel Strategies and Analytical Methods in Tackling Unresolved Rare Diseases: The Approach of the BCM-GREGoR Program Read more about Novel Strategies and Analytical Methods in Tackling Unresolved Rare Diseases: The Approach of the BCM-GREGoR Program
