Last Updated: 09/26/2026
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Found 106 publications
Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.
Journal: American journal of human genetics
Published: March 11, 2026
Inherited TBX4 frameshifting variants predicted to escape nonsense mediated decay in two families with variable phenotypes, including lethal lung developmental disorders.
Journal: Human genomics
Published: February 12, 2026
A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.
Journal: American journal of human genetics
Published: December 11, 2025
Diagnostic Utility of the ATG9A Ratio in AP-4-Associated Hereditary Spastic Paraplegia.
Journal: Annals of clinical and translational neurology
Published: October 06, 2025
Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data.
Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data.
Journal: American journal of medical genetics. Part A
Published: August 27, 2025
Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?
Journal: American journal of medical genetics. Part A
Published: August 06, 2025
Pilot Evaluation of a Digital Pretest Education Platform for Genomic Counseling: Perspectives of Health Care Providers and Patients.
Journal: Journal of genetic counseling
Published: August 06, 2025
A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia.
Journal: American journal of medical genetics. Part A
Published: July 29, 2025
Identification of a Non-Coding Causative Variant Underlying Warsaw Breakage Syndrome Using Long-Read Based Genomic Sequencing and Transcriptome Analysis.
Journal: American journal of medical genetics. Part A
Published: May 20, 2025
MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
Journal: Epilepsia
Published: December 03, 2024
Tandem splice acceptor sites: Profiling their relevance to human disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 02, 2024
Using long-read sequencing to detect and subtype a case with Temple syndrome.
Journal: Journal of medical genetics
Published: July 19, 2024
Last Updated: 09/26/2026