Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield-Reference-Cited by-同舟云学术

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Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield

Published:2021-06-12 Issue:11 Volume:41 Page:1401-1413
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenatal Diagnosis

Author:

Zhang Xinyue¹^ORCID,Ren Yuan¹^ORCID,Song Rui¹,Wang Longxia²,Xu Hong²,Xie Xiaoxiao¹^ORCID,Zhou Honghui¹,Sun Pei³,Zhang Manli⁴,Zhao Qingdong¹,You Yanqin¹,Gao Zhiying¹,Meng Yuanguang¹,Lu Yanping¹

Affiliation:

1. Department of Obstetrics and Gynecology 1st Medical Center of Chinese PLA General Hospital Beijing China

2. Department of Ultrasound 1st Medical Center of Chinese PLA General Hospital Beijing China

3. Beijing Genomics Institution Beijing China

4. Medical Innovation Research Division Chinese PLA General Hospital Beijing China

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.5974

Reference44 articles.

1. Fetal Skeletal Disorders

2. Skeletal Dysplasias

3. Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality

4. Nosology and classification of genetic skeletal disorders: 2019 revision

5. Prenatal sonographic diagnosis of skeletal dysplasias

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1. Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines;Orphanet Journal of Rare Diseases;2024-05-13

2. Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia;Journal of Clinical Ultrasound;2024-04

3. Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities;Genetics in Medicine;2023-10

4. Prenatal whole‐exome sequencing in fetuses with increased nuchal translucency;Molecular Genetics & Genomic Medicine;2023-09-27

5. Diagnostic yield of exome sequencing in fetuses with skeletal dysplasia: systematic review and meta-analysis;2023-06-22

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