Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
Plasticity of Drug-Naïve and Vemurafenib- or Trametinib-Resistant Melanoma Cells in Execution of Differentiation/Pigmentation Program.
Czyz M et al.
Journal of Oncology, 2019
Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.
Palsgrove DN et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018
A Case of Waardenburg-Shah Syndrome Type 4 Presenting with Bilateral Homochromatic Blue Irises from Pakistan.
Nusrat M et al.
Cureus, 2018
Waardenburg syndrome: Novel mutations in a large Brazilian sample.
Bocángel MAP et al.
European Journal of Medical Genetics, 2018
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Muscat AM et al.
Oncotarget, 2018
FBN1 contributing to familial congenital diaphragmatic hernia.
Beck TF et al.
American Journal of Medical Genetics. Part A, 2015
Waardenburg syndrome.
Dourmishev AL et al.
International Journal of Dermatology, 1999
Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family.
Lalwani AK et al.
American Journal of Medical Genetics, 1998
A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2.
Wang C et al.
Molecular and Cellular Probes, 1998
PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.
Hol FA et al.
Journal of Medical Genetics, 1996
The mutational spectrum in Waardenburg syndrome.
Tassabehji M et al.
Human Molecular Genetics, 1995