Fetal exome sequencing: yield and limitations in a tertiary referral center-Reference-Cited by-同舟云学术

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Fetal exome sequencing: yield and limitations in a tertiary referral center

Published:2019-01 Issue:1 Volume:53 Page:80-86
ISSN:0960-7692
Container-title:Ultrasound in Obstetrics & Gynecology
language:en
Short-container-title:Ultrasound Obstet Gynecol

Author:

Daum H.¹^ORCID,Meiner V.¹,Elpeleg O.¹²,Harel T.¹,Bar‐Or Libat³,Eilat Avital³,Fahham Duha³,Gur Michal³,Hacohen Nuphar³,Kimchi Adva³,Macarov Michal³,Porat Shay³,Rosenak Daniel³,Shaag Avraham³,Shkedi‐Rafid Shiri³,Szmulewicz Adi³,Yagel Simcha³,Yanai Nili³,Zvi Naama³,Banne Ehud⁴,Ben‐Yehoshua Sagi Josefsberg⁴,Ephron Noa⁵,Lev Dorit⁵,Drugan Arie⁶,Irge Dana⁶,Mordechai Shikma⁷,Yehuda Adi Ben⁸,Freireich Orit⁸,Segel Reeval⁸,

Affiliation:

1. Department of Genetics and Metabolic DiseasesHadassah‐Hebrew University Medical Center Jerusalem Israel

2. Monique and Jacques Roboh Department of Genetic ResearchHadassah‐Hebrew University Medical Center Jerusalem Israel

3. Hadassah‐Hebrew University Medical Center Jerusalem Israel

4. Kaplan Medical Center Rehovot Israel

5. Wolfson Medical Center, Holon, Sackler School of Medicine, Tel Aviv University Tel Aviv Israel

6. Hilel Yaffe Medical Center Hadera Israel

7. Ziv Medical Center Safed Israel

8. Shaare Zedek Medical Center Jerusalem Israel

Funder

Karl Kahane foundation

Publisher

Wiley

Subject

Obstetrics and Gynaecology,Radiology Nuclear Medicine and imaging,Reproductive Medicine,General Medicine,Radiological and Ultrasound Technology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/uog.19168

Reference20 articles.

1. Importance of complete phenotyping in prenatal whole exome sequencing

2. Chromosomal Microarray Analysis and Prenatal Diagnosis

3. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

4. Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies

5. Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

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1. “It's both a terrifying and a powerful position to be in”: A qualitative study exploring clinician experiences and perspectives on providing publicly funded fetal exome sequencing.;2024-08-26

2. A systematic review to assess the utility of genomic autopsy using exome or genome sequencing in cases of congenital anomalies and perinatal death;Genetics in Medicine;2024-07

3. Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing;Pediatric Research;2024-06-27

4. RASopathies are the most common set of monogenic syndromes identified by exome sequencing for nonimmune hydrops fetalis: A systematic review and meta‐analysis;American Journal of Medical Genetics Part A;2023-12-29

5. Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis;Prenatal Diagnosis;2023-12-06

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