Associated Papers
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
Kouri C et al.
Ebiomedicine, 2025
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.
Wang RY et al.
Journal of Orthopaedic Surgery and Research, 2024
Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only.
Iovino E et al.
Biomolecules, 2023
Genetic overview of postaxial polydactyly: Updated classification.
Ahmad Z et al.
Clinical Genetics, 2023
A review of polydactyly and its inheritance: Connecting the dots.
Bubshait DK
Medicine, 2022
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy.
Schmitt RE et al.
Npj Regenerative Medicine, 2022
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Nazarenko MS et al.
International Journal of Molecular Sciences, 2022
A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.
Wang Y et al.
Molecular Genetics & Genomic Medicine, 2022
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.
Sczakiel HL et al.
Clinical Genetics, 2021
Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis.
Szczepanek-Parulska E et al.
Endocrine, 2021
Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.
Butz H et al.
Human Genetics, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.
Siavrienė E et al.
Molecular Genetics & Genomic Medicine, 2019
CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks.
Deneault E et al.
Elife, 2019
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim A et al.
Brain : a Journal of Neurology, 2019
Genetic and epigenetic analyses guided by high resolution whole-genome SNP array reveals a possible role of CHEK2 in Wilms tumour susceptibility.
Ciceri S et al.
Oncotarget, 2018
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Broutier L et al.
Nature Medicine, 2017
Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.
Mumtaz S et al.
European Journal of Medical Genetics, 2017
Advances in the molecular genetics of non-syndromic polydactyly.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
Hedgehog pathway mutations in T-cell acute lymphoblastic leukemia.
Dagklis A et al.
Haematologica, 2015
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
CanDrA: cancer-specific driver missense mutation annotation with optimized features.
Mao Y et al.
Plos One, 2013
Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.
Chang H et al.
Plos One, 2011
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.
Elson E et al.
Journal of Medical Genetics, 2002
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
Radhakrishna U et al.
American Journal of Human Genetics, 1999