Patricia I. Bader
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Congenital heart defects research, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Chromosomal and Genetic Variations
Most-Cited Works
- → A copy number variation morbidity map of developmental delay(2011)1,390 cited
- → Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities(2008)628 cited
- → Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity(2010)241 cited
- → Mevalonic Aciduria — An Inborn Error of Cholesterol and Nonsterol Isoprene Biosynthesis(1986)200 cited
- → Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus(2013)188 cited
- → Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes(2013)172 cited
- → High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44(2011)146 cited
- → 22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH(2010)131 cited
- → Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf–Hirschhorn syndrome(1985)128 cited
- → Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions(2012)118 cited