Doherty, Dan

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

O’Roak, B. J., Vives, L., Fu, W., Egertson, J. D., Stanaway, I. B., Phelps, I. G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., et al. (2012) · Science

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 1,240

A human cell atlas of fetal gene expression

Cao, J., O’Day, D. R., Pliner, H. A., Kingsley, P. D., Deng, M., Daza, R. M., Zager, M. A., Aldinger, K. A., Blecher-Gonen, R., Zhang, F., et al. (2020) · Science

Single-cell and spatial transcriptomicsDevelopmental Biology and Gene Regulation

Cited by 764

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Huang, L., Szymanska, K., Jensen, V. L., Janecke, A. R., Innes, A. M., Davis, E. E., Frosk, P., Li, C., Willer, J. R., Chodirker, B. N., et al. (2011) · The American Journal of Human Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 194

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Latour, B. L., Van De Weghe, J. C., Rusterholz, T. D. S., Letteboer, S. J. F., Gomez, A., Shaheen, R., Gesemann, M., Karamzade, A., Asadollahi, M., Barroso-Gil, M., et al. (2020) · Journal of Clinical Investigation

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 76

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome

Dines, J. N., Liu, Y. J., Neufeld‐Kaiser, W., Sawyer, T., Ishak, G. E., Tully, H. M., Racobaldo, M., Sanchez‐Valle, A., Disteche, C. M., Juusola, J., et al. (2019) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesFetal and Pediatric Neurological Disorders

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