Associated Papers
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays.
Jurgens JA et al.
Investigative Ophthalmology & Visual Science, 2025
40162949 (PubMed )
Supplement: iovs-66-3-62_s002.xlsx › Supp_Table1
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays.
Jurgens JA et al.
Biorxiv : the Preprint Server for Biology, 2024
39314366 (PubMed )
Supplement: media-2.xlsx › Supp_Table1
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
MacKenzie KC et al.
Human Mutation, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome.
Salehpour S et al.
Iranian Journal of Child Neurology, 2017
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
Valence S et al.
Neurogenetics, 2013
KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
Drévillon L et al.
Human Molecular Genetics, 2013
Select a paper to view details