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Publications

Knowledge is power

The International Fetal Genomics Consortium is actively involved in publishing insights to advance medical and genomic science.

Improving prenatal diagnosis through standards and aggregation

Duyzend MH, et. al. Prenatal Diagnosis. PMID: 38242839.

Lethal phenotypes in Mendelian disorders

Cacheiro P, et. al. Genet Med. PMID: 38629401.

February 1, 2024

Genomics of Stillbirth

Giordano JL, Wapner RJ. Semin Perinatol. PMID: 38238216.

November 23, 2023

High-Resolution and Noninvasive Fetal Exome Screening

Brand H et. al. NEJM. PMID: 37991862

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

Dhombres et al., Am J Med Genet C Semin Med Genet. PMID: 35872606.

September 17, 2020

Causal Genetic Variants in Stillbirth

Stanley, Giordano et al. NEJM. PMID: 32786180.

January 31, 2019

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study)

Petrovski, Aggarwal et al. The Lancet. PMID: 30712878

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