Reviews In Genetics of Common and Rare Diseases

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REVIEW

Accepted on 16 Jan 2026

Progress, Clinical Application and Challenges of Non-invasive Prenatal Testing for Monogenic Diseases

Chengcheng Wang
Dongxia Hou
Gang Wang
Xi Wu
Zhiyong Zhou
Lina Yang
Ying Liu
Xiaohua Wang

SYSTEMATIC REVIEW

Published on 12 Jan 2026

Coffin–Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling

Sabyasachi Maity
Miranda Montion
Danielle Boothe
Mona Attarpour
Ivy Mageto
Simran Agarwal
Rujul Patel
Chloe Lark
Nemesis Cardona Valentin
7 more
Samal Nauhria

doi 10.3389/fgene.2025.1715229

756 views

REVIEW

Published on 01 Dec 2025

Rapid whole genome sequencing in newborn screening for metabolic diseases

Jun Zheng
Xin Yang

doi 10.3389/fped.2025.1686738

1,118 views

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Frontiers in Genetics

Genetics of Common and Rare Diseases

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Frontiers in Pediatrics
- Genetics of Common and Rare Diseases
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