Philip, Nicole

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

Cited by 2,236

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Bassett, A. S., McDonald-McGinn, D. M., Devriendt, K., Digilio, M. C., Goldenberg, P., Habel, A., Marino, B., Oskarsdottir, S., Philip, N., Sullivan, K., et al. (2011) · The Journal of Pediatrics

Genomic variations and chromosomal abnormalitiesImmunodeficiency and Autoimmune Disorders

Cited by 597

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

International 22q11.2 Brain and Behavior Consortium, Davies, R. W., Fiksinski, A. M., Breetvelt, E. J., Williams, N. M., Hooper, S. R., Monfeuga, T., Bassett, A. S., Owen, M. J., Gur, R. E., et al. (2020) · Nature Medicine

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

Cited by 139

New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002–2011)

Tardy-Guidollet, V., Menassa, R., Costa, J.-M., David, M., Bouvattier-Morel, C., Baumann, C., Houang, M., Lorenzini, F., Philip, N., Odent, S., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersPrenatal Screening and Diagnostics

Cited by 96

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

Mlynarski, E. E., Sheridan, M. B., Xie, M., Guo, T., Racedo, S. E., McDonald-McGinn, D. M., Gai, X., Chow, E. W. C., Vorstman, J., Swillen, A., et al. (2015) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesCongenital heart defects research

Cited by 74