Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6
Rare and novel variant load threshold for KIF7, GJA1 and PDE1C genes elevates the risk of severity of congenital heart defects in Down syndrome.
Ganguly A et al.
Plos One, 2025
Whole-exome sequencing identifies ECPAS as a novel potentially pathogenic gene in multiple hereditary families with nonsyndromic orofacial cleft.
Zhao H et al.
Protein & Cell, 2024
38695759 (PubMed )
Supplement: pwae021_suppl_supplementary_figures_s1-s10_tables_s1-s2.pdf
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.
Walczak-Sztulpa J et al.
Frontiers in Genetics, 2022
35873489 (PubMed )
Supplement: DataSheet1.docx
Sequences in the stalk domain regulate auto-inhibition and ciliary tip localization of the immotile kinesin-4 KIF7.
Blasius TL et al.
Journal of Cell Science, 2021
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc2.xlsx › SNVs
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.
Shimada H et al.
Cell Reports, 2017
Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.
Ibisler A et al.
Molecular Syndromology, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 341.162
Mutational analysis of hedgehog signaling pathway genes in human malignant mesothelioma.
Lim CB et al.
Plos One, 2013
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
Putoux A et al.
Nature Genetics, 2011
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