Last Updated: 09/26/2026
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Found 42 publications
Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes.
Journal: Nature communications
Published: October 09, 2025
A novel spliceosomopathy caused by de novo SF3B3 variants.
Journal: Genome medicine
Published: April 26, 2025
Exome analysis links kidney malformations to developmental disorders and reveals causal genes.
Journal: Nature communications
Published: November 16, 2024
Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies.
Journal: Kidney international reports
Published: September 30, 2024
Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework.
Journal: medRxiv : the preprint server for health sciences
Published: August 30, 2024
Developing a scoring system for gene curation prioritization in lysosomal diseases.
Journal: Molecular genetics and metabolism
Published: August 06, 2024
Genome Sequencing for Diagnosing Rare Diseases.
Journal: The New England journal of medicine
Published: June 05, 2024
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework.
Journal: Molecular genetics and metabolism
Published: May 09, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Journal: medRxiv : the preprint server for health sciences
Published: April 08, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 22, 2024
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
Journal: medRxiv : the preprint server for health sciences
Published: February 08, 2024
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Journal: Molecular genetics and metabolism
Published: December 26, 2023
Last Updated: 09/26/2026