Last Updated: 09/26/2026
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Found 261 publications
Uniparental Disomy Reveals Hidden Genetic Causes of Congenital Heart Disease.
Journal: Research square
Published: August 01, 2026
Developmental genetic determinants of the human cerebrospinal fluid-ventricular system.
Journal: Science translational medicine
Published: July 08, 2026
Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes.
Journal: Nature communications
Published: October 09, 2025
A recurrent de novo damaging variant in EMP2 causes progressive symmetric erythrokeratoderma.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: August 04, 2025
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: March 24, 2025
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: March 03, 2025
Exome analysis links kidney malformations to developmental disorders and reveals causal genes.
Journal: Nature communications
Published: November 16, 2024
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: June 25, 2024
De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.
Journal: Brain : a journal of neurology
Published: June 24, 2024
Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: March 11, 2024
AXIN1 mutations in nonsyndromic craniosynostosis.
Journal: Journal of neurosurgery. Pediatrics
Published: February 21, 2024
Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
Journal: Nature immunology
Published: February 12, 2024
Last Updated: 09/26/2026