Associated Papers
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.
Pauta M et al.
Journal of Clinical Medicine, 2021
Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.
Meier N et al.
European Journal of Human Genetics : Ejhg, 2019
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.
Reilly ML et al.
Human Molecular Genetics, 2019
Biallelic variants in KIF14 cause intellectual disability with microcephaly.
Makrythanasis P et al.
European Journal of Human Genetics : Ejhg, 2018
Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.
Filges I et al.
Clinical Genetics, 2014
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