Items where authors include "Spiller, M."

Article

Elkhateeb, N. orcid.org/0000-0002-3076-3178, Crookes, R., Spiller, M. et al. (68 more authors) (2025) Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder. Genetics in Medicine, 27 (3). 101348. ISSN 1098-3600

Niggl, E. orcid.org/0000-0002-5654-8425, Bouman, A., Briere, L.C. et al. (345 more authors) (2023) HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110 (8). pp. 1414-1435. ISSN 0002-9297

Sabanathan, S., Gulhane, D., Mankad, K. et al. (10 more authors) (2023) Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review. Neuromuscular Disorders, 33 (1). pp. 50-57. ISSN 0960-8966

Woods, E., Marson, I., Coci, E. et al. (14 more authors) (2022) Expanding the phenotype of TAB2 variants and literature review. American Journal of Medical Genetics Part A, 188 (11). pp. 3331-3342. ISSN 1552-4825

Taylor, J., Spiller, M., Ranguin, K. et al. (9 more authors) (2022) Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. American Journal of Medical Genetics Part A, 188 (5). pp. 1497-1514. ISSN 1552-4825

Woods, E., Spiller, M. and Balasubramanian, M. orcid.org/0000-0003-1488-3695 (2022) Report of two children with global developmental delay in association with de novo TLK2 variant and literature review. American Journal of Medical Genetics Part A, 188 (3). pp. 931-940. ISSN 1552-4825