Last Updated: 09/26/2026
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Found 11 publications
Response to Widen et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 17, 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
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: 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: February 07, 2023
2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor.
Journal: Molecular genetics and metabolism
Published: December 09, 2022
Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines.
Journal: JIMD reports
Published: October 29, 2022
Management of COVID-19 infection in organic acidemias.
Journal: American journal of medical genetics. Part A
Published: December 08, 2020
Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report.
Journal: European journal of medical genetics
Published: October 19, 2020
Expanding Phenotypic Spectrum of Cerebral Aspartate-Glutamate Carrier Isoform 1 (AGC1) Deficiency.
Journal: Neuropediatrics
Published: November 26, 2019
Showing 1-11 of 11
Last Updated: 09/26/2026