Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular autopsy in maternal-fetal medicine.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2018

Shamseldin Hanan E, Kurdi Wesam, Almusafri Fatima, Alnemer Maha, Alkaff Alya, Babay Zeneb, Alhashem Amal, Tulbah Maha, Alsahan Nada, Khan Rubina, Sallout Bahauddin, Al Mardawi Elham, Seidahmed Mohamed Zain, Meriki Niema, Alsaber Yasser, Qari Alya, Khalifa Ola, Eyaid Wafaa, Rahbeeni Zuhair, Kurdi Ahmed, Hashem Mais, Alshidi Tarfa, Al-Obeid Eman, Abdulwahab Firdous, Ibrahim Niema, Ewida Nour, El-Akouri Karen, Al Mulla Mariam, Ben-Omran Tawfeg, Pergande Matthias, Cirak Sebahattin, Al Tala Saeed, Shaheen Ranad, Faqeih Eissa, Alkuraya Fowzan S

Abstract excerpt

PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome sequencing as a molecular autopsy tool in a cohort of 44 families with at least one death or lethal fetal malformation at any stage of in utero development. Where no DNA was...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autopsy

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cause of Death

Share to Genes, Lethal

Share to Genetic Diseases, Inborn

Share to Molecular Diagnostic Techniques

Share to Precision Medicine

Share to Prenatal Diagnosis

Share to Workflow

Source

Identifiers

PMID: 28749478
DOI: 10.1038/gim.2017.111

Genes

AGT
ALPL
ASCC1
CTSA
FCRL4
FEN1
FKTN
GFPT1
GUSB
INVS
KIF19
KLHL41
LZTR1
MOCS3
MRPS16
MYBPC3
MYBPHL
NEB
PIEZO1
PRPF19
SERPINA11
SVOPL
THSD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular autopsy in maternal-fetal medicine.PMID 28749478Read ↗

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal deathSemantic proximity Read ↗

A genomic autopsy identifies causes of perinatal death and provides options to prevent recurrenceSemantic proximity Read ↗

Fetal exome sequencing: yield and limitations in a tertiary referral centerSemantic proximity Read ↗

Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveriesSemantic proximity Read ↗

Molecular autopsy by proxy in preconception counseling.Semantic proximity Read ↗

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.Semantic proximity Read ↗

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderSemantic proximity Read ↗

The Human Intolerome: a curated database to prioritize genomic variants in stillbirth, pregnancy loss, and neonatal deathSemantic proximity Read ↗

Lethal variants in humans: lessons learned from a large molecular autopsy cohort.Semantic proximity Read ↗

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencingSemantic proximity Read ↗

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.Semantic proximity Read ↗

The genetic autopsySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.