Whereas large-scale statistical analyses can robustly identify disease-gene relationships,
they do not accurately capture genotype-phenotype correlations or disease mechanisms. We …

Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with
overlapping clinical manifestations identified loss-of-function and missense variants in …

Corpus callosum malformations are associated with a broad range of neurodevelopmental
diseases. We report that de novo mutations in MAST1 cause mega-corpus-callosum …

The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the
transcriptional super elongation complex that regulates expression of genes involved in …

Chiari I malformation (CM1), the displacement of the cerebellum through the foramen
magnum into the spinal canal, is one of the most common pediatric neurological conditions. …

The endothelin receptor type A (EDNRA) signaling pathway is essential for the establishment
of mandibular identity during development of the first pharyngeal arch. We report four …

Teratogenic levels of retinoic acid (RA) signaling can cause seemingly contradictory phenotypes
indicative of both increases and decreases of RA signaling. However, the mechanisms …

We report an 8-year-old boy with a complex cerebral malformation, intellectual disability,
and complex partial seizures. Whole-exome sequencing revealed a yet unreported de novo …

Auriculocondylar syndrome is a rare craniofacial disorder comprising core features of
micrognathia, condyle dysplasia and question mark ear. Causative variants have been identified in …

Aicardi–Goutières syndrome (AGS) is an inflammatory disorder belonging to the recently
characterized group of type I interferonopathies. The most consistently affected tissues in AGS …