Zackai, Elaine

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

Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

Schneider, M., Debbané, M., Bassett, A. S., Chow, E. W. C., Fung, W. L. A., van den Bree, M. B. M., Owen, M., Murphy, K. C., Niarchou, M., Kates, W. R., et al. (2014) · American Journal of Psychiatry

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 779

Microduplications of 16p11.2 are associated with schizophrenia

Wellcome Trust Case Control Consortium, McCarthy, S. E., Makarov, V., Kirov, G., Addington, A. M., McClellan, J., Yoon, S., Perkins, D. O., Dickel, D. E., Kusenda, M., et al. (2009) · Nature Genetics

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 711

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 667

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

Association Between Osteosarcoma and Deleterious Mutations in the RECQL4 Gene in Rothmund-Thomson Syndrome

Wang, L. L., Gannavarapu, A., Kozinetz, C. A., Levy, M. L., Lewis, R. A., Chintagumpala, M. M., Ruiz-Maldanado, R., Contreras-Ruiz, J., Cunniff, C., Erickson, R. P., et al. (2003) · JNCI Journal of the National Cancer Institute

Sarcoma Diagnosis and TreatmentGenomics and Rare Diseases

Cited by 338

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

Chen, R., Shi, L., Hakenberg, J., Naughton, B., Sklar, P., Zhang, J., Zhou, H., Tian, L., Prakash, O., Lemire, M., et al. (2016) · Nature Biotechnology

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 310

Patient characteristics are important determinants of neurodevelopmental outcome at one year of age after neonatal and infant cardiac surgery

Gaynor, J. W., Wernovsky, G., Jarvik, G. P., Bernbaum, J., Gerdes, M., Zackai, E., Nord, A. S., Clancy, R. R., Nicolson, S. C., & Spray, T. L. (2007) · The Journal of Thoracic and Cardiovascular Surgery

Congenital Heart Disease StudiesCardiovascular Conditions and Treatments

Cited by 270

Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis

Kan, S.-H., Elanko, N., Johnson, D., Cornejo-Roldan, L., Cook, J., Reich, E. W., Tomkins, S., Verloes, A., Twigg, S. R. F., Rannan-Eliya, S., et al. (2002) · The American Journal of Human Genetics

Craniofacial Disorders and TreatmentsConnective tissue disorders research

Cited by 265

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

Kelley, R. I., Datta, N. S., Dobyns, W. B., Hajra, A. K., Moser, A. B., Noetzel, M. J., Zackai, E. H., Moser, H. W., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics

Metabolism and Genetic DisordersGenetic and rare skin diseases.

Cited by 219

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Ji, J., Lee, H., Argiropoulos, B., Dorrani, N., Mann, J., Martinez-Agosto, J. A., Gomez-Ospina, N., Gallant, N., Bernstein, J. A., Hudgins, L., et al. (2015) · European Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 145

T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome

Piliero, L. M., Sanford, A. N., McDonald-McGinn, D. M., Zackai, E. H., & Sullivan, K. E. (2004) · Blood

T-cell and B-cell ImmunologyImmunodeficiency and Autoimmune Disorders

Cited by 144

The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery

Gaynor, J. W., Jarvik, G. P., Bernbaum, J., Gerdes, M., Wernovsky, G., Burnham, N. B., D’Agostino, J. A., Zackai, E., McDonald-McGinn, D. M., Nicolson, S. C., et al. (2006) · The Journal of Thoracic and Cardiovascular Surgery

Congenital Heart Disease StudiesCardiovascular Conditions and Treatments

Cited by 106

Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy?

Gaynor, J. W., Gerdes, M., Nord, A. S., Bernbaum, J., Zackai, E., Wernovsky, G., Clancy, R. R., Heagerty, P. J., Solot, C. B., McDonald-McGinn, D., et al. (2010) · The Journal of Thoracic and Cardiovascular Surgery

Congenital Heart Disease StudiesCardiovascular Conditions and Treatments

Cited by 88

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

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome

Zarate, Y. A., Smith‐Hicks, C. L., Greene, C., Abbott, M., Siu, V. M., Calhoun, A. R. U. L., Pandya, A., Li, C., Sellars, E. A., Kaylor, J., et al. (2018) · American Journal of Medical Genetics Part A

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 71

Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot

Zeltser, I., Jarvik, G. P., Bernbaum, J., Wernovsky, G., Nord, A. S., Gerdes, M., Zackai, E., Clancy, R., Nicolson, S. C., Spray, T. L., et al. (2008) · The Journal of Thoracic and Cardiovascular Surgery

Congenital Heart Disease StudiesCongenital heart defects research

Cited by 67

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

NFIB haploinsufficiency is associated with intellectual disability and macrocephaly

Schanze, I., Bunt, J., Lim, J. W. C., Schanze, D., Dean, R. J., Alders, M., Blanchet, P., Attié-Bitach, T., Berland, S., Boogert, S., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 63

Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features

Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., et al. (2024) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 46

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