Hurst, Anna C.E.

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

Liang, L., Li, X., Moutton, S., Schrier Vergano, S. A., Cogné, B., Saint-Martin, A., Hurst, A. C. E., Hu, Y., Bodamer, O., Thevenon, J., et al. (2019) · Human Molecular Genetics

Ion channel regulation and functionGenomics and Rare Diseases

Cited by 91

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

Le Coz, C., Nguyen, D. N., Su, C., Nolan, B. E., Albrecht, A. V., Xhani, S., Sun, D., Demaree, B., Pillarisetti, P., Khanna, C., et al. (2021) · Journal of Experimental Medicine

Immunodeficiency and Autoimmune DisordersGenomics and Chromatin Dynamics

Cited by 69

Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features

Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., et al. (2024) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 46

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Isidor, B., Ebstein, F., Hurst, A., Vincent, M., Bader, I., Rudy, N. L., Cogne, B., Mayr, J., Brehm, A., Bupp, C., et al. (2022) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 24

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Hiatt, S. M., Trajkova, S., Sebastiano, M. R., Partridge, E. C., Abidi, F. E., Anderson, A., Ansar, M., Antonarakis, S. E., Azadi, A., Bachmann-Gagescu, R., et al. (2023) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 21

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

Herbst, C., Bothe, V., Wegler, M., Axer-Schaefer, S., Audebert-Bellanger, S., Gecz, J., Cogne, B., Feldman, H. B., Horn, A. H. C., Hurst, A. C. E., et al. (2024) · Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 7