Author pages are created from data sourced from our academic publisher partnerships and public sources.
Share This Author
Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database
This study provides an exhaustive and up-to-date summary of the status of PD genetics research that can be readily scaled to include the results of future large-scale genetics projects, including next-generation sequencing studies.
Genome-wide association study identifies 30 Loci Associated with Bipolar Disorder
The largest genome-wide association study to date, including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 881 sentinel variants at loci with P<1×10-4, achieves genome- wide significance including 18 novel loci, which provide potential new biological mechanisms for bipolar disorder.
SLC6A4 variation and citalopram response
- D. Mrazek, A. Rush, +9 authors R. Weinshilboum
- Biology, MedicineAmerican journal of medical genetics. Part B…
- 5 April 2009
It is suggested that multiple variations in the SLC6A4 gene are associated with remission in white non‐Hispanic depressed adults treated with citalopram, and the mechanism of action of these variants remains to be determined.
Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders
Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting substantial pleiotropy of contributing loci within genes that show heightened expression in the brain throughout the lifespan, beginning prenatally in the second trimester, and play prominent roles in neurodevelopmental processes.
Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes
For the first time, specific loci that distinguish between BD and SCZ are discovered and polygenic components underlying multiple symptom dimensions are identified that point to the utility of genetics to inform symptomology and potential treatment.
Heterozygosity for a POMC-Null Mutation and Increased Obesity Risk in Humans
It is concluded that loss of one copy of the POMC gene predisposes to obesity in humans and genetic variants having relatively subtle effects on PomC expression and function could influence susceptibility to obesity.
CYP2C19 variation and citalopram response
- D. Mrazek, J. Biernacka, +7 authors R. Weinshilboum
- Biology, MedicinePharmacogenetics and genomics
- 1 January 2011
Variations in CYP2C19 were associated with tolerance and remission in a large sample of White non-Hispanic patients treated with citalopram, despite several limitations including the lack of serum drug levels.
Machine learning in genome‐wide association studies
Machine learning approaches are promising complements to standard single‐and multi‐SNP analysis methods for understanding the overall genetic architecture of complex human diseases, however, because they are not optimized for genome‐wide SNP data, improved implementations and new variable selection procedures are required.
Gene set analysis of SNP data: benefits, challenges, and future directions
An overview of Gene set analysis is provided, highlighting the key challenges, potential solutions, and directions for ongoing research.
Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder.
- L. Hou, Sarah L Bergen, +136 authors F. McMahon
- Biology, MedicineHuman molecular genetics
- 21 June 2016
A two-stage meta-analysis of GWAS of bipolar disorder patients and controls revealed genome-wide significant associations at two novel loci, adding to a growing list of common autosomal variants involved in BD and illustrating the power of comparing well-characterized cases to an excess of controls in GWAS.