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

(Click to read)

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.




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

(Click to read)

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

(Click to read)

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.