Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination

V Steinthorsdottir, BV Halldorsson, H Jonsson… - Nature structural & …, 2024 - nature.com
Two-thirds of all human conceptions are lost, in most cases before clinical detection. The
lack of detailed understanding of the causes of pregnancy losses constrains focused …

Lethal phenotypes in Mendelian disorders

P Cacheiro, S Lawson, IB Van den Veyver… - Genetics in …, 2024 - Elsevier
Purpose Existing resources that characterize the essentiality status of genes are based on
either proliferation assessment in human cell lines, viability evaluation in mouse knockouts …

Genomics of stillbirth

JL Giordano, RJ Wapner - Seminars in Perinatology, 2023 - Elsevier
Stillbirth, defined as fetal death at 20 weeks gestation or later, is a devastating pregnancy
outcome affecting 1 in 175 pregnancies in the United States. Although efforts to understand …

Goldilocks principle and recessive disease

A Fabre, P Guerry - European Journal of Human Genetics, 2024 - nature.com
Monogenic disease are often understood as being either recessive, when one pathogenic
variant is asymptomatic and two variants are required for symptomatic disease, or dominant …

Molecular autopsy for fetal structural anomaly: diagnostic and clinical utility of multidisciplinary team approach

E Wall, E Petley, F Mone, S Doyle… - … in Obstetrics & …, 2024 - Wiley Online Library
Abstract Objectives In the West Midlands Regional Genetic Service, cases of perinatal death
with a possible genetic diagnosis are evaluated by the Perinatal Pathology Genetic …

[HTML][HTML] High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses

G Bozhinovski, M Terzikj, K Kubelka-Sabit… - Balkan Medical …, 2024 - ncbi.nlm.nih.gov
Background: The fetal monogenic causes of early pregnancy losses (EPLs) are mainly
unknown, with only a few articles on the subject published. In our previous study of EPLs …

[HTML][HTML] Factoring genetics in the management of implantation and early pregnancy

AS Leyva - focusonreproduction.eu
Factoring genetics in the management of implantation and early pregnancy - Focus on
Reproduction - ESHRE Become a member Log In Search for: Contact Us Member Only Content …