Last Updated: 09/26/2026
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Found 38 publications
Chromosomal Microarray Analysis in Critically Ill Neonates and Children: Diagnostic Yield and Clinical Utility.
Journal: Life (Basel, Switzerland)
Published: May 09, 2026
First Report of Phosphoglycerate Kinase Deficiency in a Dinè Child With Review of Current Literature.
Journal: American journal of medical genetics. Part A
Published: December 26, 2024
Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.
Journal: Genetics in medicine open
Published: December 06, 2024
Granulomatous Variant of Giant Centrifugal Miliaria Profunda in an 8-Month-Old Boy: Expanding the Dermatologic Phenotype of Cardiofaciocutaneous Syndrome.
Journal: Pediatric dermatology
Published: August 10, 2024
Systemic JAK inhibitors for treatment of cutaneous manifestations in a patient with SPINK5 variants: A case report and review of the literature.
Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
Published: June 14, 2024
Response to Widen et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 17, 2024
Hypogammaglobulinemia in 2 children with Zhu-Tokita-Takenouchi-Kim syndrome.
Journal: Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology
Published: March 12, 2024
Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 11, 2023
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.
Journal: American journal of human genetics
Published: December 08, 2023
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Journal: The Journal of clinical investigation
Published: September 06, 2023
Significant improvement of psychotic symptoms in treatment-resistant schizophrenia with clozapine in an adolescent with SHINE syndrome: a case report.
Journal: BMC psychiatry
Published: March 14, 2023
15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature.
Journal: American journal of medical genetics. Part A
Published: March 10, 2023
Last Updated: 09/26/2026