Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome
Author:
Funder
Deutsche Forschungsgemeinschaft
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology
Reference42 articles.
1. Recent advances in imprinting disorders;Soellner;Clin. Genet.,2017
2. Diagnosis and management of Silver-Russell syndrome: first international consensus statement;Wakeling;Nat. Rev. Endocrinol.,2017
3. Targeted next generation sequencing approach in patients referred for Silver-Russell syndrome testing increases the mutation detection rate and provides decisive information for clinical management;Meyer;J. Pediatr.,2017
4. Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database;Tumer;Hum. Mutat.,2018
5. EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome;Eggermann;Eur. J. Hum. Genet.,2016
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1. Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age;Frontiers in Endocrinology;2022-08-24
2. Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants;European Journal of Human Genetics;2021-07-19
3. One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome;Orphanet Journal of Rare Diseases;2021-01-22
4. Neonatal Silver-Russell syndrome assumed to result from maternal uniparental heterodisomy of chromosome 7;Journal of Genetic Medicine;2020-12-31
5. Imprinting disorders in humans: a review;Current Opinion in Pediatrics;2020-11-02
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