Associated Papers
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.
Hennick K et al.
Biorxiv : the Preprint Server for Biology, 2025
40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs
A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.
Chen TY et al.
American Journal of Medical Genetics. Part A, 2025
Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases.
Chouery E et al.
Clinical Genetics, 2024
Dandy-Walker malformation in an individual with ABL1 variant.
Garzon JP et al.
American Journal of Medical Genetics. Part A, 2024
ABL1-related congenital heart defects and skeletal malformations syndrome in a patient from Sub-Saharan Africa: A case report highlighting novel cardiac features.
Spencer C et al.
American Journal of Medical Genetics. Part A, 2023
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
Scott TM et al.
Journal of Medical Genetics, 2022
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity.
Blakes AJM et al.
European Journal of Human Genetics : Ejhg, 2021
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.
Chen CA et al.
Human Mutation, 2020
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
Wang X et al.
Nature Genetics, 2017
A personalised medicine approach for ponatinib-resistant chronic myeloid leukaemia.
Korfi K et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2015
25712455 (PubMed )
Supplement: supp_mdv110_mdv110supp.docx
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