Associated Papers
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Colbert BM et al.
Human Genetics, 2024
38691166 (PubMed )
Supplement: 439_2024_2648_MOESM4_ESM.xlsx › eTable_2_All_Participants
Distinct Genetically Determined Origins of Myd88/BCL2-Driven Aggressive Lymphoma Rationalize Targeted Therapeutic Intervention Strategies.
Flümann R et al.
Blood Cancer Discovery, 2023
36346827 (PubMed )
Supplement: bcd-22-0007_table_s6_suppst6.xlsx › D_Mut_Pat.__3
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
Adeyemo A et al.
European Journal of Human Genetics : Ejhg, 2022
34837038 (PubMed )
Supplement: 41431_2021_984_MOESM3_ESM.xlsx › Variants_detected
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.
DiStefano MT et al.
The Journal of Molecular Diagnostics : Jmd, 2018
Whole-exome sequencing of Finnish hereditary breast cancer families.
Määttä K et al.
European Journal of Human Genetics : Ejhg, 2016
Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.
Luzón-Toro B et al.
Bmc Medical Genetics, 2015
New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease.
Sánchez-Mejías A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family.
Sánchez-Mejías A et al.
Journal of Medical Genetics, 2009
A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3.
Matera I et al.
Pigment Cell Research, 2007
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