Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families
Author:
Publisher
Elsevier BV
Subject
Obstetrics and Gynecology,Reproductive Medicine
Reference58 articles.
1. ESHRE Guideline: management of women with premature ovarian insufficiency;Webber;Hum Reprod,2016
2. Primary ovarian insufficiency;De Vos;Lancet,2010
3. Genetics of primary ovarian insufficiency: new developments and opportunities;Qin;Hum Reprod Update,2015
4. Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic spectrum;Tucker;Endocr Rev,2016
5. New insights into the genetic basis of premature ovarian insufficiency: novel causative variants and candidate genes revealed by genomic sequencing;Jaillard;Maturitas,2020
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1. Mode of inheritance needs to be accounted for in interpreting genotype-phenotype links in monogenic disorders;2023-09-27
2. Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency;Nature Medicine;2023-06-22
3. Association of genetic disorders and congenital malformations with premature ovarian insufficiency: a nationwide register-based study;Human Reproduction;2023-04-05
4. Whole exome sequencing reveals novel variants associated with diminished ovarian reserve in young women;Frontiers in Genetics;2023-03-29
5. Monogenic causes of Premature Ovarian Insufficiency are rare and mostly recessive;2022-11-22
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