Last Updated: 09/26/2026
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Found 59 publications
ArchSpiral: An iPad-Based Digital Archimedean Spiral Assessment for Objective Motor Evaluation in Rare Diseases.
Journal: medRxiv : the preprint server for health sciences
Published: August 20, 2026
Timely Diagnosis of Cobalamin C Disease via Rapid Genome Sequencing in a Neonate With Severe Prenatally Detected Biventricular Dysfunction.
Journal: Case reports in critical care
Published: June 22, 2026
DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment.
Journal: medRxiv : the preprint server for health sciences
Published: June 12, 2026
Positron Emission Tomography (PET) in Phenylketonuria: A Systematic Review of Brain Metabolism Beyond Phenylalanine.
Journal: American journal of medical genetics. Part A
Published: May 06, 2026
Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease.
Journal: Kidney international reports
Published: March 20, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.
Journal: American journal of medical genetics. Part A
Published: February 23, 2026
Clinicopathologic characteristics of early-onset breast cancer among unselected young Black women.
Journal: Cancer
Published: February 13, 2026
Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG.
Journal: Biomolecules
Published: February 02, 2026
Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn Screening.
Journal: Public health genomics
Published: January 14, 2026
Long-read sequencing for neurological disorders: opportunities, challenges, and future directions.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: January 09, 2026
Syndrome of the Month: Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia Type 2.
Journal: American journal of medical genetics. Part A
Published: December 31, 2025
An EHR-based framework for modeling growth curves and constructing growth centile charts for genetic disorders.
Journal: NPJ genomic medicine
Published: December 12, 2025
Last Updated: 09/26/2026