Willer, Jason

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Golzio, C., Willer, J., Talkowski, M. E., Oh, E. C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., Gusella, J. F., et al. (2012) · Nature

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Boldt, K., van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T.-M. T., Texier, Y., van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., et al. (2016) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 240

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

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

Balasubramanian, R., Choi, J.-H., Francescatto, L., Willer, J., Horton, E. R., Asimacopoulos, E. P., Stankovic, K. M., Plummer, L., Buck, C. L., Quinton, R., et al. (2014) · Proceedings of the National Academy of Sciences

Hypothalamic control of reproductive hormonesCongenital Ear and Nasal Anomalies

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