Parboosingh, Jillian S.

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

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency

Buchert, R., Tawamie, H., Smith, C., Uebe, S., Innes, A. M., Al Hallak, B., Ekici, A. B., Sticht, H., Schwarze, B., Lamont, R. E., et al. (2014) · The American Journal of Human Genetics

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 132

Clinical genetics and the Hutterite population: a review of Mendelian disorders.

Boycott, K. M., Parboosingh, J. S., Chodirker, B. N., Lowry, R. B., McLeod, D. R., Morris, J., Greenberg, C. R., Chudley, A. E., Bernier, F. P., Midgley, J., et al. (2008) · American Journal of Medical Genetics Part A

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 50

Lin‐Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders

Bashir, R. A., Dixit, A., Goedhart, C., Parboosingh, J. S., Innes, A. M., Care for Rare Canada Consortium, Ferreira, P., Hasan, S. U., & Au, P. B. (2017) · American Journal of Medical Genetics Part A

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 21

Further delineation of BCAP31‐linked intellectual disability: description of 17 new families with LoF and missense variants

Whalen, S., Shaw, M., Mignot, C., Héron, D., Bastaraud, S. C., Walti, C. C., Liebelt, J., Elmslie, F., Yap, P., Hurst, J., et al. (2021) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 15