J. C. Loo

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.

T. van Amelsvoort, G. Klingberg, A. Lang, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.

G. Klingberg, K. Sullivan, S. Eliez, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

A. Bassett, B. Marino, E. Boot, 2023, Genes.

Germline splicing mutations of CDKN2A predispose to melanoma

M. Tucker, A. Goldstein, H. Lynch, 2003, Oncogene.

Personalized medical information card for adults with 22q11.2 deletion syndrome: An initiative to improve communication between patients and healthcare providers.

A. Bassett, E. Boot, J. C. Y. Loo, 2020, Journal of applied research in intellectual disabilities : JARID.

Search for genetic variants associated with cutaneous malignant melanoma in the Ashkenazi Jewish population

A. Paterson, D. Hogg, E. Yakobson, 2005, Journal of Medical Genetics.