Last Updated: 09/26/2026
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Found 93 publications
Offering Prenatal Testing for Adult-Onset Diseases (Argument AGAINST).
Journal: Clinical obstetrics and gynecology
Published: June 01, 2026
Interventional genomics: Bridging germline diagnosis and therapeutic action.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 30, 2025
Clinical Presentation of a Child With a Novel ALMS1 Variant Associated With Alström Syndrome and Favorable Response to GLP-1 Receptor Agonist Therapy.
Journal: American journal of medical genetics. Part A
Published: July 28, 2025
The GigaAssay: A combined high throughput and highly accurate platform for variant classification.
Journal: New biotechnology
Published: July 23, 2025
New Gain-of-Function Mutations Prioritize Mechanisms of HER2 Activation.
Journal: medRxiv : the preprint server for health sciences
Published: March 17, 2025
Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects.
Journal: International journal of molecular sciences
Published: January 30, 2025
High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
Journal: International journal of molecular sciences
Published: April 16, 2024
Expanded carrier screening for inherited genetic disease using exome and genome sequencing.
Journal: Journal of genetic counseling
Published: April 02, 2024
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 22, 2024
ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals.
Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
Published: November 20, 2023
Last Updated: 09/26/2026