Associated Papers
Proteogenomic characterization of invasive breast tumors in young women.
Raj-Kumar PK et al.
Npj Breast Cancer, 2025
40826002 (PubMed )
Supplement: 41523_2025_793_MOESM3_ESM.xlsx › S2E
AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.
Gallego-Zazo N et al.
Clinical Genetics, 2025
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Awamleh Z et al.
European Journal of Human Genetics : Ejhg, 2024
38282074 (PubMed )
Supplement: 41431_2024_1538_MOESM5_ESM.xlsx › Table_S1
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong A et al.
American Journal of Medical Genetics. Part A, 2023
De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features.
Rips J et al.
American Journal of Medical Genetics. Part A, 2021
Distinct Molecular Landscape of Epstein-Barr Virus Associated Pulmonary Lymphoepithelioma-Like Carcinoma Revealed by Genomic Sequencing.
Chau SL et al.
Cancers, 2020
32726920 (PubMed )
Supplement: cancers-12-02065-s001.zip › cancers-870865-supplementary_V2 › Supplementary_Tables_S1-S10.xlsx › Table_S4
Using human sequencing to guide craniofacial research.
Liegel RP et al.
Genesis (new York, N.y. : 2000), 2019
Select a paper to view details