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Last updated almost 5 years ago
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
almost 5 years ago
Genetics in Medicine, Published online: 19 October 2021; doi:10.1038/s41436-021-01189-8Correction to: An autosomal...
Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
almost 5 years ago
Genetics in Medicine, Published online: 13 October 2021; doi:10.1038/s41436-021-01304-9Correction to: Early cancer...
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
almost 5 years ago
Genetics in Medicine, Published online: 14 September 2021; doi:10.1038/s41436-021-01306-7Correction: Phenotypic expansion of...
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
almost 5 years ago
Genetics in Medicine, Published online: 14 September 2021; doi:10.1038/s41436-021-01279-7Correction to: Rare variants...
Correction to: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)
almost 5 years ago
Genetics in Medicine, Published online: 27 August 2021; doi:10.1038/s41436-021-01300-zCorrection to: Screening for...
Expanded phenotype of AARS1-related white matter disease
almost 5 years ago
Genetics in Medicine, Published online: 27 August 2021; doi:10.1038/s41436-021-01286-8Expanded phenotype of AARS1-related...
Correction: The persistent lack of knowledge and misunderstanding of the Genetic Information Nondiscrimination Act (GINA) more than a decade after passage
almost 5 years ago
Genetics in Medicine, Published online: 27 August 2021; doi:10.1038/s41436-021-01305-8Correction: The persistent lack...
A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings
almost 5 years ago
Genetics in Medicine, Published online: 26 August 2021; doi:10.1038/s41436-021-01295-7A systematic literature review...
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
almost 5 years ago
Genetics in Medicine, Published online: 25 August 2021; doi:10.1038/s41436-021-01297-5Evaluating the performance of...
A qualitative investigation of biomedical informatics interoperability standards for genetic test reporting: benefits, challenges, and motivations from the testing laboratory’s perspective
almost 5 years ago
Genetics in Medicine, Published online: 25 August 2021; doi:10.1038/s41436-021-01301-yA qualitative investigation of...
The design, implementation, and effectiveness of intervention strategies aimed at improving genetic referral practices: a systematic review of the literature
almost 5 years ago
Genetics in Medicine, Published online: 24 August 2021; doi:10.1038/s41436-021-01272-0The design, implementation, and...
Correction to: Focused Revision: Policy statement on folic acid and neural tube defects
almost 5 years ago
Genetics in Medicine, Published online: 19 August 2021; doi:10.1038/s41436-021-01299-3Correction to: Focused Revision...