Dr. Moalem has published papers on a variety of topics ranging from what happens to honeybees when they get sick, to the evolutionary advantages of hemochromatosis and diabetes.

Featured Papers

SOX18-coverHypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene

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from Clinical Genetics

Moalem S, Brouillard P, Kuypers D, Legius E, Harvey E, Taylor G, Francois M, Vikkula M, Chitayat D. 2014. Hypotrichosis-lymphedematelangiectasia- renal defect associated with a truncating mutation in the SOX18 gene. Clin Genet 2014.

 

 

INVS-Article-Cover

Broadening the Ciliopathy Spectrum: Motile Cilia Dyskinesia, and Nephronophthisis Associated With a Previously Unreported Homozygous Mutation in the INVS/NPHP2 Gene

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from the American Journal of Medical Genetics.

Moalem S, Keating S, Shannon P, Thompson M, Millar K, Nykamp K, Forster A, Noor A, Chitayat D. 2013. Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene. Am J Med Ge net Part A.

 

XX Male Sex Reversal With Genital Abnormalities Associated With a De Novo SOX3 Gene Duplication

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from the American Journal of Medical Genetics.

 

Moalem S, Babul-Hirji R, Stavropolous DJ, Wherrett D, Bägli DJ, Thomas P, Chitayat D. 2012. XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication. Am J Med Genet Part A 158A:1759–1764.