A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies-Reference-Cited by-同舟云学术

A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies

Published:2022-05-20 Issue:7 Volume:42 Page:901-910
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenatal Diagnosis

Author:

Dufke Andreas¹²^ORCID,Hoopmann Markus³,Waldmüller Stephan¹,Prodan Natalia Carmen³,Beck‐Wödl Stefanie¹,Grasshoff Ute¹,Heinrich Tilman¹,Riess Angelika¹,Kehrer Martin¹,Falb Ruth J.¹,Liebmann Alexandra¹,Roggia Cristiana¹,Stampfer Miriam¹,Schadeck Malou¹,Müller Amelie J.¹,Grimmel Mona¹,Stöbe Petra¹,Gauck Darja¹,Buchert‐Lo Rebecca¹,Baumann Sarah¹,Schäferhoff Karin¹,Bertrand Miriam¹,Menden Benita¹,Sturm Marc¹,Schütz Leon¹,Riess Olaf¹²,Ossowski Stephan¹,Haack Tobias B.¹²,Kagan Karl Oliver³

Affiliation:

1. Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany

2. Centre for Rare Diseases University of Tübingen Tübingen Germany

3. Department for Women's Health University Hospital of Tübingen Tübingen Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.6170

Reference36 articles.

1. Genome‐wide sequencing for unexplained developmental disabilities or multiple congenital anomalies: a health technology assessment;Ontario H;Ont Health Technol Assess Ser,2020

2. Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

3. Promises, pitfalls and practicalities of prenatal whole exome sequencing

4. Genomic Study of Severe Fetal Anomalies and Discovery of GREB1L Mutations in Renal Agenesis

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