Scambler, Peter J.

22q11.2 deletion syndrome

McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers

Genomic variations and chromosomal abnormalitiesImmunodeficiency and Autoimmune Disorders

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The UK10K project identifies rare variants in health and disease

The UK10K Consortium, Writing group, Walter, K., Min, J. L., Huang, J., Crooks, L., Memari, Y., McCarthy, S., Perry, J. R. B., Xu, C., et al. (2015) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Program, N. C. S., Davis, E. E., Zhang, Q., Liu, Q., Diplas, B. H., Davey, L. M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., et al. (2011) · Nature Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

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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

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Molecular genetics of 22q11.2 deletion syndrome

Morrow, B. E., McDonald‐McGinn, D. M., Emanuel, B. S., Vermeesch, J. R., & Scambler, P. J. (2018) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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Mutations in SRD5B1 ( AKR1D1 ), the gene encoding Δ 4 -3-oxosteroid 5β-reductase, in hepatitis and liver failure in infancy

Lemonde, H. A., Custard, E. J., Bouquet, J., Duran, M., Overmars, H., Scambler, P. J., & Clayton, P. T. (2003) · Gut

Pediatric Hepatobiliary Diseases and TreatmentsMetabolism and Genetic Disorders

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Whole-genome sequence-based analysis of thyroid function

Taylor, P. N., Porcu, E., Chew, S., Campbell, P. J., Traglia, M., Brown, S. J., Mullin, B. H., Shihab, H. A., Min, J., Walter, K., et al. (2015) · Nature Communications

Genetic Associations and EpidemiologyThyroid Disorders and Treatments

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HIC2 Is a Novel Dosage-Dependent Regulator of Cardiac Development Located Within the Distal 22q11 Deletion Syndrome Region

Dykes, I. M., van Bueren, K. L., Ashmore, R. J., Floss, T., Wurst, W., Szumska, D., Bhattacharya, S., & Scambler, P. J. (2014) · Circulation Research

Congenital heart defects researchGenomic variations and chromosomal abnormalities

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