Exome re-analysis increases the diagnostic yield of monogenic diseases in children.

IF 2.3 4区医学 Q2 PEDIATRICS Pediatrics and Neonatology Pub Date : 2024-10-23 DOI:10.1016/j.pedneo.2024.10.001

Atanu Kumar Dutta, Niladri Sekhar Bhunia, Rohit Bhowmik, Nihar Ranjan Mishra, Rimjhim Sonowal, Nibedita Sarma, Sumit Mukherjee, Kalyan Goswami

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外显子组再分析提高了儿童单基因疾病的诊断率。

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来源期刊

Pediatrics and Neonatology PEDIATRICS-

CiteScore

3.10

自引率

0.00%

发文量

170

审稿时长

48 days

期刊介绍： Pediatrics and Neonatology is the official peer-reviewed publication of the Taiwan Pediatric Association and The Society of Neonatology ROC, and is indexed in EMBASE and SCOPUS. Articles on clinical and laboratory research in pediatrics and related fields are eligible for consideration.

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