| 2025 |
Broeren, E. C., Gitau, V. N., Byrne, A. B., Ajuyah, P., Ha, T., & Coffey, A. J. (2025). The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships. Genetics in Medicine Open, 3(103429), 1-12.
DOI |
| 2025 |
Frank, M. S. B., Bennett, M. K., Ha, T. T., Moore, L., Arts, P., Byrne, A. B., . . . Scott, H. S. (2025). Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses. Human Genomics, 19(1, article no. 132), 132-1-132-13.
DOI |
| 2024 |
Venugopal, P., Arts, P., Fox, L. C., Simons, A., Hiwase, D. K., Bardy, P. G., . . . Scott, H. S. (2024). Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion. Blood Advances, 8(13), 3437-3443.
DOI Scopus6 WoS3 Europe PMC3 |
| 2023 |
Ha, T. T., Burgess, R., Newman, M., Moey, C., Mandelstam, S. A., Gardner, A. E., . . . Corbett, M. A. (2023). Aicardi Syndrome Is a Genetically Heterogeneous Disorder. Genes, 14(8), 1565.
DOI Scopus4 WoS3 Europe PMC5 |
| 2023 |
Batkovskyte, D., McKenzie, F., Taylan, F., Simsek-Kiper, P. O., Nikkel, S. M., Ohashi, H., . . . Grigelioniene, G. (2023). Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders. Journal of Bone and Mineral Research, 38(5), 692-706.
DOI Scopus13 WoS13 Europe PMC14 |
| 2023 |
Byrne, A. B., Arts, P., Ha, T. T., Kassahn, K. S., Pais, L. S., O'Donnell-Luria, A., . . . Webber, D. L. (2023). Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nature Medicine, 29(1), 180-189.
DOI Scopus51 WoS51 Europe PMC38 |
| 2023 |
Ghaoui, R., Ha, T. T., Kerkhof, J., McConkey, H., Gao, S., Babic, M., . . . Kassahn, K. S. (2023). Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis. Neuromuscular Disorders, 33(6), 484-489.
DOI Scopus8 WoS7 Europe PMC7 |
| 2023 |
Lunke, S., Bouffler, S. E., Patel, C. V., Sandaradura, S. A., Wilson, M., Pinner, J., . . . Stark, Z. (2023). Integrated multi-omics for rapid rare disease diagnosis on a national scale. Nature Medicine, 29(7), 1681-1691.
DOI Scopus100 WoS98 Europe PMC106 |
| 2023 |
Homan, C. C., Drazer, M. W., Yu, K., Lawrence, D. M., Feng, J., Arriola-Martinez, L. A., . . . Brown, A. L. (2023). Somatic mutational landscape of hereditary hematopoietic malignancies caused by germ line RUNX1, GATA2, and DDX41 variants. Blood Advances, 7(20), 6092-6107.
DOI Scopus36 WoS33 Europe PMC28 |
| 2022 |
Yıldız Bölükbaşı, E., Karolak, J. A., Szafranski, P., Gambin, T., Matsika, A., McManus, S., . . . Stankiewicz, P. (2022). Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant. European Journal of Human Genetics, 30(10), 1-5.
DOI Scopus4 WoS4 Europe PMC3 |
| 2021 |
De Angelis, C., Byrne, A. B., Morrow, R., Feng, J., Ha, T., Wang, P., . . . Barnett, C. (2021). Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia. BMC Medical Genomics, 14(1), 64-1-64-7.
DOI Scopus6 WoS5 Europe PMC7 |
| 2021 |
Field, M. J., Sharma, R., Hackett, A., Kayumi, S., Shoubridge, C., Ewans, L. J., . . . Corbett, M. A. (2021). Different types of disease-causing non-coding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability. Human Mutation, 42(7), 835-847.
DOI Scopus1 WoS1 Europe PMC1 |
| 2021 |
Ravindran, E., Jühlen, R., Vieira-Vieira, C. H., Ha, T., Salzberg, Y., Fichtman, B., . . . Kaindl, A. M. (2021). Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders. Human Molecular Genetics, 30(22), 2068-2081.
DOI Scopus15 WoS13 Europe PMC14 |
| 2021 |
Homan, C. C., King-Smith, S. L., Lawrence, D. M., Arts, P., Feng, J., Andrews, J., . . . Brown, A. L. (2021). The RUNX1 Database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.. Haematologica, 106(11), 3004-3007.
DOI Scopus46 WoS40 Europe PMC38 |
| 2020 |
Arts, P., Garland, J., Byrne, A. B., Hardy, T. S. E., Babic, M., Feng, J., . . . Scott, H. S. (2020). Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome. American Journal of Medical Genetics Part A, 182(5), 1273-1277.
DOI Scopus16 WoS14 Europe PMC17 |
| 2020 |
Brown, A. L., Arts, P., Carmichael, C. L., Babic, M., Dobbins, J., Chong, C. -E., . . . Scott, H. S. (2020). RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML. Blood Advances, 4(6), 1131-1144.
DOI Scopus133 WoS123 Europe PMC115 |
| 2019 |
Quartier, A., Courraud, J., Ha, T., McGillivray, G., Isidor, B., Rose, K., . . . Piton, A. (2019). Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment. Human Mutation, 40(11), 2021-2032.
DOI Scopus45 WoS42 Europe PMC45 |
| 2017 |
Corbett, M., Turner, S., Gardner, A., Silver, J., Stankovich, J., Leventer, R., . . . Gecz, J. (2017). Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. European Journal of Medical Genetics, 60(8), 437-443.
DOI Scopus13 WoS12 Europe PMC10 |
| 2016 |
Ha, T., Sadleir, L., Mandelstam, S., Paterson, S., Scheffer, I., Gecz, J., & Corbett, M. (2016). A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts. American Journal of Medical Genetics Part A, 170(4), 1059-1063.
DOI Scopus16 WoS16 Europe PMC14 |
| 2016 |
Kumar, R., Ha, T., Pham, D., Shaw, M., Mangelsdorf, M., Friend, K. L., . . . Gecz, J. (2016). A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability. European Journal of Human Genetics, 24(11), 1612-1616.
DOI Scopus10 WoS10 Europe PMC8 |
