Associated Papers
De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency.
Villamor-Payà M et al.
Iscience, 2024
Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency.
Villamor-Payà M et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.
Krane M et al.
Circulation, 2021
34694888 (PubMed )
Supplement: cir-144-1409-s001.xlsx › 1D_WES_results_PCGC_cohort
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.
Edwards JJ et al.
Jacc. Basic to Translational Science, 2020
32368696 (PubMed )
Supplement: mmc3.xlsx › Cases
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