Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of
malformations that arise from defective kidney or urinary tract development and frequently …

During the past decades, remarkable progress has been made in our understanding of the
molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing …

Objectives Cerebral palsy (CP) is the most common childhood motor disability, yet its link to
single‐gene disorders is under‐characterized. To explore the genetic landscape of CP, we …

An inability to repair DNA double-strand breaks (DSBs) threatens genome integrity and can
contribute to human diseases, including cancer. Mammalian cells repair DSBs mainly …

Embryonic genome activation (EGA) occurs during preimplantation development and is
characterized by the initiation of de novo transcription from the embryonic genome. Despite …

ZMYM2 is a transcriptional repressor whose role in development is largely unexplored. We
found that Zmym2−/− mice show embryonic lethality by E10. 5. Molecular characterization of …

CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals
from eleven independent families with bi-allelic variants in CELSR3. Affected individuals …

Hundreds of different genetic causes of chronic kidney disease are now recognized, and
while individually rare, taken together they are significant contributors to both adult and …

Neurodevelopmental disorders (NDDs) result from highly penetrant variation in hundreds of
different genes, some of which have not yet been identified. Using the MatchMaker …

Introduction: The Six1 transcription factor plays important roles in the development of cranial
sensory organs, and point mutations underlie craniofacial birth defects. Because Six1's …