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Exome trios in patients with gastroschisis (2019-04-08)

Gastroschisis (MIM 230750) is a herniation of the intestines through a defect of the abdominal wall lateral to the umbilicus (usually on the right side), and it is not covered by a membrane [Ledbetter, 2012]. Gastroschisis is a congenital anomaly with increasing incidence, easy prenatal diagnosis and extremely variable postnatal outcomes. On the basis of clinical manifestations, epidemiologic charateristics, and the presence and type of additional malformations, gastroschisis could be considered a heterogeneous condition with no gene/s discovered yet. This congenital anomaly affects approximately 1-3 infancts per 10,000 live births [Calzolari et al.1995;Parker et al.,2010] Current knowledge about causative mutations/variants. To date, no single gene has been linked to gastroschisis. Some publications have tried to link this malformation to variants in genes (such as AEBP1 (adipocyte enhancer binding protein) gene [Feldkamp et al,. 2012] or the VEGF-NOS3 pathway [Lammer et al., 2008]. Previously, a Scribble mutant mouse model (circletail) was reported to exhibit gastroschisis, however recent studies demonstrated that the Scribble knockout fetus exhibits exomphalos phenotype of gastroschisis [Carnagham et al., 2013]. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ . This dataset contains all the data available for this study on 2019-04-08.

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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001002664 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00002032403 cram 1.2 GB
EGAF00002032404 cram 1.3 GB
EGAF00002032405 cram 1.1 GB
EGAF00002032406 cram 1.3 GB
EGAF00002032407 cram 1.4 GB
EGAF00002032408 cram 1.3 GB
EGAF00002032409 cram 1.2 GB
EGAF00002032410 cram 998.7 MB
EGAF00002032411 cram 1.2 GB
EGAF00002032412 cram 1.3 GB
EGAF00002032413 cram 1.1 GB
EGAF00002032414 cram 1.3 GB
EGAF00002032415 cram 1.4 GB
EGAF00002032416 cram 1.3 GB
EGAF00002032417 cram 1.2 GB
EGAF00002032418 cram 999.1 MB
EGAF00002032419 cram 1.1 GB
EGAF00002032420 cram 1.0 GB
EGAF00002032421 cram 1.2 GB
EGAF00002032422 cram 1.2 GB
EGAF00002032423 cram 1.2 GB
EGAF00002032424 cram 1.3 GB
EGAF00002032425 cram 1.2 GB
EGAF00002032426 cram 1.3 GB
EGAF00002441765 cram 1.1 GB
EGAF00002441766 cram 1.1 GB
EGAF00002441767 cram 1.2 GB
EGAF00002441768 cram 1.2 GB
EGAF00002441769 cram 1.2 GB
EGAF00002441770 cram 1.3 GB
EGAF00002441771 cram 1.2 GB
EGAF00002441772 cram 1.3 GB
EGAF00002441773 cram 1.3 GB
EGAF00002441774 cram 1.3 GB
EGAF00002441775 cram 1.2 GB
EGAF00002441776 cram 1.2 GB
EGAF00002441777 cram 1.3 GB
EGAF00002441778 cram 1.2 GB
EGAF00002441779 cram 1.3 GB
EGAF00002441780 cram 1.3 GB
EGAF00002441781 cram 1.3 GB
EGAF00002441782 cram 1.2 GB
EGAF00002441783 cram 1.2 GB
EGAF00002441784 cram 1.3 GB
EGAF00002441785 cram 1.2 GB
EGAF00002441786 cram 1.3 GB
EGAF00002441787 cram 1.5 GB
EGAF00002441788 cram 1.6 GB
EGAF00002441789 cram 1.6 GB
EGAF00002441790 cram 1.5 GB
EGAF00002441791 cram 1.6 GB
EGAF00002441792 cram 1.5 GB
EGAF00002441793 cram 1.7 GB
EGAF00002441794 cram 1.5 GB
EGAF00002441795 cram 1.6 GB
EGAF00002441796 cram 1.6 GB
EGAF00002441797 cram 1.5 GB
EGAF00002441798 cram 1.6 GB
EGAF00002441799 cram 1.5 GB
EGAF00002441800 cram 1.6 GB
60 Files (78.0 GB)