Exome sequencing in prenatal diagnosis: results from 88 cases

被引：0

作者：

Ranza, Emmanuelle ^{[1
]}

Blanc, Xavier ^{[1
]}

Santoni, Federico ^{[1
]}

Guerry, Frederic ^{[1
]}

Conrad, Bernard ^{[2
]}

Eperon, Isabelle ^{[3
]}

Tissot, Cecile ^{[4
]}

Deluen, Cecile ^{[2
]}

Araud, Tanguy ^{[2
]}

Baerlocher, Loic ^{[2
]}

Martin, Yasmine Sayegh ^{[5
]}

Muller-Brochut, Anne-Claude ^{[6
]}

Bisch, Christian ^{[3
]}

Fluss, Joel ^{[7
]}

Pellegrinelli, Jean-Marie ^{[7
]}

Carrasco, Marta ^{[8
]}

Quibel, Thibaud ^{[9
]}

Lacroix, Sylvie ^{[9
]}

Extermann, Philippe ^{[3
]}

Pescia, Graziano ^{[10
]}

Susini, Romaine Robyr ^{[9
]}

Antonarakis, Stylianos E. ^{[1
]}

机构：

[1] Swiss Inst Genom Med, Medigenome, Geneva, Switzerland

[2] Genesupport, Geneva, Switzerland

[3] Dianecho, Geneva, Switzerland

[4] Clin Grangettes, Geneva, Switzerland

[5] Ctr Imagerie Jean Violette, Geneva, Switzerland

[6] Ctr GynEcho, Fribourg, Switzerland

[7] HUG, Geneva, Switzerland

[8] GHOL, Nyon, Switzerland

[9] EchoFemme, Geneva, Switzerland

[10] Genesupport, Lausanne, Switzerland

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / SUPPL 1期

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P01.077.A

引用

页码：110 / 110

页数：1

共 50 条

[31] Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation
Bian, Xinyi
Yang, Xiao
Shi, Xinwei
Zeng, Wanjiang
Deng, Dongrui
Chen, Suhua
Qiao, Fuyuan
Feng, Ling
Wu, Yuanyuan
OPEN LIFE SCIENCES, 2023, 18 (01):
[32] Preferences for results delivery from exome sequencing/genome sequencing
Wright, Martha F.
Lewis, Katie L.
Fisher, Tyler C.
Hooker, Gillian W.
Emanuel, Toby E.
Biesecker, Leslie G.
Biesecker, Barbara B.
GENETICS IN MEDICINE, 2014, 16 (06) : 442 - 447
[33] Clinical application of medical exome sequencing for prenatal diagnosis of fetal structural anomalies
Chen, Min
Chen, Jingsi
Wang, Chunli
Chen, Fei
Xie, Yinong
Li, Yufan
Li, Nan
Wang, Jing
Zhang, Victor Wei
Chen, Dunjin
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, 2020, 251 : 119 - 124
[34] Unveiling the potential: evaluating prenatal genetic diagnosis through exome trio sequencing
Asensio-Landa, Victor
Sanchez, Sara
Martorell, Rosa
Suner, Damian Heine
Torres-Juan, Laura
Santos-Simarro, Fernando
Paso, Maria Garcia-De
Avella-Klaassen, Susana Renee
Prado-Farnos, Maria Carmen
Vila, Maria
Alegre, Andrea
de Gopegui, Rosa Ruiz
Tubau, Albert
Martinez, Iciar
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1599 - 1600
[35] Application of Whole-Exome Sequencing in the Genetic Diagnosis of Prenatal Ultrasound Abnormalities
Qin, Lili
Liu, Datong
Wang, Xuanyi
Xia, Yu
Sun, Meiling
Chen, Huizi
BRITISH JOURNAL OF HOSPITAL MEDICINE, 2024, 85 (12)
[36] Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing
Shi, Xiaomei
Tang, Hui
Lu, Jian
Yang, Xiue
Ding, Hongke
Wu, Jing
ANNALS OF MEDICINE, 2021, 53 (01) : 1285 - 1291
[37] From sub-microscopic variants to the resolution of a single base pair: Exome sequencing in prenatal diagnosis
He, Ping
Xu, Li-Li
Li, Dong-Zhi
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (04)
[38] Prenatal isolated clubfoot increases the risk for clinically significant exome sequencing results
Yu, Qiu-Xia
Li, Yan-Lin
Zhang, Yong-Ling
Lin, Xiao-Mei
Zhen, Li
Li, Dong-Zhi
PRENATAL DIAGNOSIS, 2022, 42 (13) : 1622 - 1626
[39] The results and outcomes of the prenatal exome sequencing service at St George's hospital from inception to date
Dempsey, E.
Yogen, P.
Drury, S.
Haworth, A.
Mansour, S.
Homfray, T.
Ramachandran, V
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2019, 126 : 73 - 73
[40] Attitudes toward uncertain results from prenatal exome sequencing: a national survey among healthcare professionals working in the prenatal setting
Lu, Dongfang
Yang, Jing
Shen, Wei
Chen, Min
FRONTIERS IN MEDICINE, 2024, 11

← 1 2 3 4 5 →