Ciliopathies are inherited human disorders caused by both motile and non‐motile cilia
dysfunction that form an important and rapidly expanding disease category. Ciliopathies are …

Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …

The Genotype-Tissue Expression (GTEx) project, sponsored by the NIH Common Fund, was
established to study the correlation between human genetic variation and tissue-specific …

Purpose: To prospectively evaluate the diagnostic and clinical utility of singleton whole-
exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease …

Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …

The gene encoding the secreted protein Sonic hedgehog (Shh) is expressed in the
polarizing region (or zone of polarizing activity), a small group of mesenchyme cells at the …

Primary cilia organize Hedgehog signaling and shape embryonic development, and their
dysregulation is the unifying cause of ciliopathies. We conducted a functional genomic …

With recent advances in high-throughput, automated microscopy, there has been an
increased demand for effective computational strategies to analyze large-scale, image …

Studies of human genetic disorders have traditionally followed a reductionist paradigm.
Traits are defined as Mendelian or complex based on family pedigree and population data …

Since its initial discovery in a Drosophila mutagenesis screen, the Hedgehog pathway has
been revealed to be instrumental in the proper development of the vertebrate face …