Emanuel, Beverly S.

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

Frequency of 22q11 deletions in patients with conotruncal defects

Goldmuntz, E., Clark, B. J., Mitchell, L. E., Jawad, A. F., Cuneo, B. F., Reed, L., McDonald-McGinn, D., Chien, P., Feuer, J., Zackai, E. H., et al. (1998) · Journal of the American College of Cardiology

Genomic variations and chromosomal abnormalitiesCongenital Heart Disease Studies

Cited by 592

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

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

Cited by 137

Mapping Cortical Thickness in Children with 22q11.2 Deletions

Bearden, C. E., van Erp, T. G. M., Dutton, R. A., Tran, H., Zimmermann, L., Sun, D., Geaga, J. A., Simon, T. J., Glahn, D. C., Cannon, T. D., et al. (2007) · Cerebral Cortex

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 92

A double hit implicates DIAPH3 as an autism risk gene

Vorstman, J. A. S., van Daalen, E., Jalali, G. R., Schmidt, E. R. E., Pasterkamp, R. J., de Jonge, M., Hennekam, E. A. M., Janson, E., Staal, W. G., van der Zwaag, B., et al. (2011) · Molecular Psychiatry

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 74

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

Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs

Sønderby, I. E., Ching, C. R. K., Thomopoulos, S. I., van der Meer, D., Sun, D., Villalon‐Reina, J. E., Agartz, I., Amunts, K., Arango, C., Armstrong, N. J., et al. (2022) · Human Brain Mapping

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 67

Effects of Comt Genotype on Behavioral Symptomatology in the 22q11.2 Deletion Syndrome

Bearden, C. E., Jawad, A. F., Lynch, D. R., Monterossso, J. R., Sokol, S., McDonald-McGinn, D. M., Saitta, S. C., Harris, S. E., Moss, E., Wang, P. P., et al. (2005) · Child Neuropsychology

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 42