Associated Papers
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Autosomal single-gene disorders involved in human infertility.
Jedidi I et al.
Saudi Journal of Biological Sciences, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Human Globozoospermia-Related Gene Spata16 Is Required for Sperm Formation Revealed by CRISPR/Cas9-Mediated Mouse Models.
Fujihara Y et al.
International Journal of Molecular Sciences, 2017
A Homozygous Deletion of the DPY19l2 Gene is a Cause of Globozoospermia in Men from the Republic of Macedonia.
Noveski P et al.
Balkan Journal of Medical Genetics : Bjmg, 2013
Failure of acrosome formation and globozoospermia in the wobbler mouse, a Vps54 spontaneous recessive mutant.
Paiardi C et al.
Spermatogenesis, 2011
Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.
Dam AH et al.
American Journal of Human Genetics, 2007
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