Genomic and epigenetic evidence for oxytocin receptor deficiency in autism (2009)
Gregory, Simon G, Connelly, Jessica J, Towers, Aaron J, Johnson, Jessica, Biscocho, Dhani, Markunas, Christina A, ...
Abstract Background Autism comprises a spectrum of behavioral and cognitive disturbances of childhood development and is known to be highly heritable. Although numerous approaches have been used to...
Hong Xu, Simon G. Gregory, Elizabeth R. Hauser, Judith E. Stenger, Margaret A. Pericak, Jeffery M. Vance, ...
Summary: Single nucleotide polymorphisms (SNPs) are commonly used for association studies to find genes responsible for complex genetic diseases. With the recent advance of SNP technology,...
Genetic and functional association of FAM5Cwith myocardial infarction (2008)
Connelly, Jessica J, Shah, Svati H, Doss, Jennifer F, Gadson, Shera, Nelson, Sarah, Crosslin, David R, ...
Abstract Background We previously identified a 40 Mb region of linkage on chromosome 1q in our early onset coronary artery disease (CAD) genome-wide linkage scan (GENECARD) with modest evidence for...
Sutton, Beth S., Crosslin, David R., Shah, Svati H., Nelson, Sarah C., Bassil, Anthony, Hale, A. Brent, ...
Platelet-activating factor acetylhydrolase (PLA2G7) is a potent pro- and anti-inflammatory molecule that has been implicated in multiple inflammatory disease processes, including cardiovascular...
McCauley, Jacob L, Kenealy, Shannon J, Margulies, Elliott H, Schnetz-Boutaud, Nathalie, Gregory, Simon G, Hauser, Stephen L, ...
Abstract Background Although genes play a key role in many complex diseases, the specific genes involved in most complex diseases remain largely unidentified. Their discovery will hinge on the...
A second major histocompatibility complex susceptibility locus for multiple sclerosis (2007)
Gregory, Simon G, Barcellos, Lisa F, Walton, Amie, ...
Objective: Variation in the major histocompatibility complex (MHC) on chromosome 6p21 is known to influence susceptibility to multiple sclerosis with the strongest effect originating from the...
GATA2 Is Associated with Familial Early-Onset Coronary Artery Disease (2006)
Jessica J. Connelly, Tianyuan Wang, Julie E. Cox, Carol Haynes, Liyong Wang, Svati H. Shah, ...
The transcription factor GATA2 plays an essential role in the establishment and maintenance of adult hematopoiesis. It is expressed in hematopoietic stem cells, as well as the cells that make up the...
GATA2 is associated with familial early onset coronary artery disease (2006)
Jessica Jeanne Connelly, Ty Wang, Julie Cox, Carol Haynes, Liyong Wang, Svati H Shah, ...
The transcription factor GATA2 plays an essential role in the establishment and maintenance of adult hematopoiesis. It is expressed in hematopoietic stem cells, as well as the cells that make up the...
Kresse, Stine H, Berner, Jeanne-Marie, Meza-Zepeda, Leonardo A, Gregory, Simon G, Kuo, Wen-Lin, Gray, Joe W, ...
Abstract Background Amplification of the q21-q23 region on chromosome 1 is frequently found in sarcomas and a variety of other solid tumours. Previous analyses of sarcomas have indicated the presence...
SNPselector: a web tool for selecting SNPs for genetic association studies (2005)
Xu, Hong, Gregory, Simon G., Hauser, Elizabeth R., Stenger, Judith E., Pericak-Vance, Margaret A., Vance, Jeffery M., ...
Summary: Single nucleotide polymorphisms (SNPs) are commonly used for association studies to find genes responsible for complex genetic diseases. With the recent advance of SNP technology,...
SNPselector: a web tool for selecting SNPs for genetic association studies (2005)
Xu, Hong, Gregory, Simon G., Hauser, Elizabeth R., Stenger, Judith E., Pericak-Vance, Margaret A., Vance, Jeffery M., ...
Summary: Single nucleotide polymorphisms (SNPs) are commonly used for association studies to find genes responsible for complex genetic diseases. With the recent advance of SNP technology,...
Enhancing linkage analysis of complex disorders: An evaluation of high-density genotyping (2004)
Sawcer, Stephen J, Maranian, Mel, Singlehurst, Sarah, Yeo, TaiWai, Compston, Alastair, ...
To explore the potential value of recently developed high density linkage mapping methods in the analysis of complex disease we have regenotyped five nuclear families first studied in the 1996 UK...
Enhancing linkage analysis of complex disorders: An evaluation of high-density genotyping (2004)
Sawcer, Stephen J, Maranian, Mel, Singlehurst, Sarah, Yeo, TaiWai, Compston, Alastair, ...
To explore the potential value of recently developed high density linkage mapping methods in the analysis of complex disease we have regenotyped five nuclear families first studied in the 1996 UK...
McMullan, Tristan W., Crolla, John A., Gregory, Simon G., Carter, Nigel P., Cooper, Rachel A., Howell, Gareth R., ...
Ptosis is defined as drooping of the upper eyelid and can impair full visual acuity. It occurs in a number of forms including congenital bilateral isolated ptosis, which may be familial and for which...
McMullan, Tristan F.W., Crolla, John A., Gregory, Simon G., Carter, Nigel P., Cooper, Rachel A., Howell, Gareth R., ...
Ptosis is defined as drooping of the upper eyelid and can impair full visual acuity. It occurs in a number of forms including congenital bilateral isolated ptosis, which may be familial and for which...
Schutte, Brian C., Bjork, Bryan C., Coppage, Kevin B., Malik, Margaret I., Gregory, Simon G., Scott, Deborah J., ...
Schutte, Brian C., Bjork, Bryan C., Coppage, Kevin B., Malik, Margaret I., Gregory, Simon G., Scott, Deborah J., ...
Van der Woude syndrome (VWS) is a common form of syndromic cleft lip and palate and accounts for ∼2% of all cleft lip and palate cases. Distinguishing characteristics include cleft lip with or...
Genome Mapping by Fluorescent Fingerprinting
Gregory, Simon G., Howell, Gareth R., Bentley, David R.
The construction of sequence-ready maps of overlapping genomic clones is central to large-scale genome sequencing. We have implemented a method for fluorescent fingerprinting of bacterial clones to...
Kresse, Stine H, Berner, Jeanne-Marie, Meza-Zepeda, Leonardo A, Gregory, Simon G, Kuo, Wen-Lin, Gray, Joe W, ...
SNPselector: a web tool for selecting SNPs for genetic association studies
Xu, Hong, Gregory, Simon G., Hauser, Elizabeth R., Stenger, Judith E., Pericak Vance, Margaret A., Vance, Jeffery M., ...
Summary: Single nucleotide polymorphisms (SNPs) are commonly used for association studies to find genes responsible for complex genetic diseases. With the recent advance of SNP technology,...
GATA2 Is Associated with Familial Early-Onset Coronary Artery Disease
Connelly, Jessica J, Wang, Tianyuan, Cox, Julie E, Haynes, Carol, Wang, Liyong, Shah, Svati H, ...
The transcription factor GATA2 plays an essential role in the establishment and maintenance of adult hematopoiesis. It is expressed in hematopoietic stem cells, as well as the cells that make up the...
Schutte, Brian C., Bjork, Bryan C., Coppage, Kevin B., Malik, Margaret I., Gregory, Simon G., Scott, Deborah J., ...
Van der Woude syndrome (VWS) is a common form of syndromic cleft lip and palate and accounts for ∼2% of all cleft lip and palate cases. Distinguishing characteristics include cleft lip with or...
Genome Mapping by Fluorescent Fingerprinting
Gregory, Simon G., Howell, Gareth R., Bentley, David R.
The construction of sequence-ready maps of overlapping genomic clones is central to large-scale genome sequencing. We have implemented a method for fluorescent fingerprinting of bacterial clones to...
Kresse, Stine H, Berner, Jeanne-Marie, Meza-Zepeda, Leonardo A, Gregory, Simon G, Kuo, Wen-Lin, Gray, Joe W, ...
GATA2 Is Associated with Familial Early-Onset Coronary Artery Disease
Connelly, Jessica J, Wang, Tianyuan, Cox, Julie E, Haynes, Carol, Wang, Liyong, Shah, Svati H, ...
The transcription factor GATA2 plays an essential role in the establishment and maintenance of adult hematopoiesis. It is expressed in hematopoietic stem cells, as well as the cells that make up the...
McCauley, Jacob L, Kenealy, Shannon J, Margulies, Elliott H, Schnetz-Boutaud, Nathalie, Gregory, Simon G, Hauser, Stephen L, ...
Wang, Liyong, Hauser, Elizabeth R., Shah, Svati H., Pericak-Vance, Margaret A., Haynes, Carol, Crosslin, David, ...
A susceptibility locus for coronary artery disease (CAD) has been mapped to chromosome 3q13-21 in a linkage study of early-onset CAD. We completed an association-mapping study across the...
Genetic and functional association of FAM5C with myocardial infarction
Connelly, Jessica J, Shah, Svati H, Doss, Jennifer F, Gadson, Shera, Nelson, Sarah, Crosslin, David R, ...
Neuropeptide Y Gene Polymorphisms Confer Risk of Early-Onset Atherosclerosis
Shah, Svati H., Freedman, Neil J., Zhang, Lisheng, Crosslin, David R., Stone, David H., Haynes, Carol, ...
Neuropeptide Y (NPY) is a strong candidate gene for coronary artery disease (CAD). We have previously identified genetic linkage to familial CAD in the genomic region of NPY. We performed follow-up...