Elucidating the genetic etiology underlying septo-optic dysplasia (SOD) Read more about Elucidating the genetic etiology underlying septo-optic dysplasia (SOD)
Complex genetic architecture underlying craniofacial microsomia Read more about Complex genetic architecture underlying craniofacial microsomia
Investigating the genetic and phenotypic landscape of Ectodermal Dysplasia Read more about Investigating the genetic and phenotypic landscape of Ectodermal Dysplasia
Long-read sequencing of 1000 Genomes Project samples to catalog normal patterns of human genome structural variation Read more about Long-read sequencing of 1000 Genomes Project samples to catalog normal patterns of human genome structural variation
Data sharing in the GREGoR Consortium to support rare genetic disease research. Read more about Data sharing in the GREGoR Consortium to support rare genetic disease research.
Evaluation of missing disease-causing variation in autosomal recessive conditions using long-read sequencing Read more about Evaluation of missing disease-causing variation in autosomal recessive conditions using long-read sequencing
Genome reference impacts RNA-seq interpretation and rare disease diagnosis Read more about Genome reference impacts RNA-seq interpretation and rare disease diagnosis
Multi-omic approach identifies a novel non-coding deletion at Xq28 in a patient with X-linked primary immunodeficiency. Read more about Multi-omic approach identifies a novel non-coding deletion at Xq28 in a patient with X-linked primary immunodeficiency.
Exome technology innovations advancing personalized medicine Read more about Exome technology innovations advancing personalized medicine
Application of RNA sequencing on transdifferentiated patient fibroblasts for genetic diagnosis of neurological disorders Read more about Application of RNA sequencing on transdifferentiated patient fibroblasts for genetic diagnosis of neurological disorders
