Susan L. Christian
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetic Syndromes and Imprinting, Prenatal Screening and Diagnostics, Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research
Most-Cited Works
- → Recurrent 16p11.2 microdeletions in autism(2007)740 cited
- → Microduplications of 16p11.2 are associated with schizophrenia(2009)732 cited
- → Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region(1994)422 cited
- → PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia(2015)362 cited
- → De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome(2012)305 cited
- → Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder(2008)299 cited
- → Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum(2008)285 cited
- → Large genomic duplicons map to sites of instability in the Prader- Willi/Angelman syndrome chromosome region (15q11-q13)(1999)272 cited
- → AUTISM AS A PARADIGMATIC COMPLEX GENETIC DISORDER(2004)268 cited
- → Polymorphisms at the G72/G30 Gene Locus, on 13q33, Are Associated with Bipolar Disorder in Two Independent Pedigree Series*(2003)265 cited