VUS: Variant of uncertain significance or very unclear situation?-Reference-Cited by-同舟云学术

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VUS: Variant of uncertain significance or very unclear situation?

Published:2023-09 Issue:1-2 Volume:140 Page:107678
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Kemp Stephan,Orsini Joseph J.,Ebberink Merel S.,Engelen Marc,Lund Troy C.

Funder

ZonMw

Nederlandse Organisatie voor Wetenschappelijk Onderzoek

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference37 articles.

1. Sex-specific newborn screening for X-linked adrenoleukodystrophy;Albersen;J. Inherit. Metab. Dis.,2023

2. Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules;Baatallah;Hum. Mutat.,2018

3. Newborn screening for X-linked Adrenoleukodystrophy in Nebraska: initial experiences and challenges;Baker;Int. J. Neonatal Screen,2022

4. Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy;Blair;J. Med. Genet.,2001

5. Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring;Bonaventura;Front. Neurol.,2023

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Secondary failure of lentiviral vector gene therapy in a cerebral adrenoleukodystrophy patient with an ABCD1 whole-gene deletion;Molecular Therapy;2024-08

2. Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach;Molecular Genetics and Metabolism;2024-05

3. What can pediatricians learn from adult inherited metabolic diseases?;Journal of Inherited Metabolic Disease;2024-03-23

4. Newborn screening for adrenoleukodystrophy: International experiences and challenges;Molecular Genetics and Metabolism;2023-12

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