Last Updated: 09/26/2026
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Found 24 publications
Genomic Insights Into Risperidone Treatment Outcomes in Children and Adolescents: Experience From a Psychiatric Hospital Serving Rural Youth.
Journal: Clinical pharmacology and therapeutics
Published: August 07, 2025
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: July 18, 2025
Prenatally Detected Maternally Inherited Partial Duplication of 11p15.5 ICR1 Results in Phenotypes Overlapping Russell-Silver Syndrome in Infancy.
Journal: Prenatal diagnosis
Published: February 28, 2025
Long-read sequencing is required for precision diagnosis of incontinentia pigmenti.
Journal: HGG advances
Published: February 25, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti.
Journal: Research square
Published: February 20, 2025
Non-Mosaic Trisomy 9: Further Delineation of the Clinical Phenotype.
Journal: American journal of medical genetics. Part A
Published: January 07, 2025
Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.
Journal: Genetics in medicine open
Published: April 06, 2024
Ion Channels in Gliomas-From Molecular Basis to Treatment.
Journal: International journal of molecular sciences
Published: November 30, 2022
Ensuring equity: Pharmacogenetic implementation in rural and tribal communities.
Journal: Frontiers in pharmacology
Published: May 25, 2022
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Journal: American journal of human genetics
Published: December 07, 2020
N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
Journal: Journal of inherited metabolic disease
Published: June 24, 2020
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
Journal: Journal of inherited metabolic disease
Published: September 09, 2019
Last Updated: 09/26/2026