Medical Sequencing at the Extremes of Human Body Mass REPORT (2008)
Nadav Ahituv, Nihan Kavaslar, Wendy Schackwitz, Anna Ustaszewska, Joel Martin, Sybil Hébert, ...
Body weight is a quantitative trait with significant heritability in humans. To identify potential genetic contributors to this phenotype, we resequenced the coding exons and splice junctions of 58...
Association of common variants in the Joubert syndrome gene (AHI1) with autism (2008)
Alvarez Retuerto, Ana I., Cantor, Rita M., Gleeson, Joseph G., Ustaszewska, Anna, Schackwitz, Wendy S., Pennacchio, Len A., ...
It has been suggested that autism, like other complex genetic disorders, may benefit from the study of rare or Mendelian variants associated with syndromic or non-syndromic forms of the disease....
Gain-of-function SOS1 mutations cause a distinctive form of noonan syndrome (2006)
Tartaglia, Marco, Pennacchio, Len A., Zhao, Chen, Yadav, Kamlesh K., Fodale, Valentina, Sarkozy, Anna, ...
Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphia, congenital heart defects and skeletal anomalies1. Increased RAS-mitogenactivated protein kinase...
A PYY Q62P variant linked to human obesity (2006)
Ahituv, Nadav, Kavaslar, Nihan, Schackwitz, Wendy, Ustaszewska, Anna, Collier, John Michael, Hébert, Sybil, ...
Peptide YY (PYY) has been implicated in the control of food intake through functional studies in rodents and humans. To investigate whether genetic alterations within this gene result in abnormal...
Lack of Support for the Association between GAD2 Polymorphisms and Severe Human Obesity (2005)
Michael M. Swarbrick, Björn Waldenmaier, Len A. Pennacchio, Denise L. Lind, Martha M. Cavazos, Frank Geller, ...
A large genetic study involving multiple populations is not able to replicate previous findings linking variation in the GAD2 gene to susceptibility to obesity.
Lack of Support for the Association between GAD2 Polymorphisms and Severe Human Obesity (2005)
Michael M. Swarbrick, Björn Waldenmaier, Len A. Pennacchio, Denise L. Lind, Martha M. Cavazos, Frank Geller, ...
The demonstration of association between common genetic variants and chronic human diseases such as obesity could have profound implications for the prediction, prevention, and treatment of these...
A PYY Q62P variant linked to human obesity (2005)
Ahituv, Nadav, Kavaslar, Nihan, Schackwitz, Wendy, Ustaszewska, Anna, Collier, John Michael, Hebert, Sybil, ...
Members of the pancreatic polypeptide family and their receptors have been implicated in the control of food intake in rodents and humans. To investigate whether nucleotide changes in these candidate...
A PYY Q62P variant linked to human obesity (2005)
Ahituv, Nadav, Kavaslar, Nihan, Schackwitz, Wendy, Ustaszewska, Anna, Collier, John Michael, Hébert, Sybil, ...
Peptide YY (PYY) has been implicated in the control of food intake through functional studies in rodents and humans. To investigate whether genetic alterations within this gene result in abnormal...
Lack of MEF2A mutations in coronary artery disease (2004)
Weng, Li, Kavaslar, Nihan, Ustaszewska, Anna, Doelle, Heather, Schackwitz, Wendy, Hebert, Sybil, ...
Mutations in MEF2A have been implicated in an autosomal dominant form of coronary artery disease (adCAD1). In this study we sought to determine whether severe mutations in MEF2A might also explain...
Lack of Support for the Association Between GAD2 Polymorphisms and Severe Human Obesity (2004)
Swarbrick, Michael M., Waldenmaier, Bjorn, Pennacchio, Len A., Lind, Denise L., Cavazos, Martha M., Geller, Frank, ...
Demonstration of association between common genetic variants and chronic human diseases such as obesity could have profound implications for the prediction, prevention and treatment of these...
The sequence and analysis of duplication rich human chromosome 16 (2004)
Martin, Joel, Han, Cliff, Gordon, Laurie A., Terry, Astrid, Prabhakar, Shyam, She, Xinwei, ...
We report here the 78,884,754 base pairs of finished human chromosome 16 sequence, representing over 99.9 percent of its euchromatin. Manual annotation revealed 880 protein coding genes confirmed by...
The complete sequence of human chromosome 5 (2004)
Schmutz, Jeremy, Martin, Joel, Terry, Astrid, Couronne, Olivier, Grimwood, Jane, Lowry, State, ...
Chromosome 5 is one of the largest human chromosomes yet has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding...
Lack of MEF2A mutations in coronary artery disease
Weng, Li, Kavaslar, Nihan, Ustaszewska, Anna, Doelle, Heather, Schackwitz, Wendy, Hébert, Sybil, ...
Mutations in MEF2A have been implicated in an autosomal dominant form of coronary artery disease (adCAD1). In this study we sought to determine whether severe mutations in MEF2A might also explain...
Lack of Support for the Association between GAD2 Polymorphisms and Severe Human Obesity
Swarbrick, Michael M, Waldenmaier, Björn, Pennacchio, Len A, Lind, Denise L, Cavazos, Martha M, Geller, Frank, ...
The demonstration of association between common genetic variants and chronic human diseases such as obesity could have profound implications for the prediction, prevention, and treatment of these...
Lack of MEF2A mutations in coronary artery disease
Weng, Li, Kavaslar, Nihan, Ustaszewska, Anna, Doelle, Heather, Schackwitz, Wendy, Hébert, Sybil, ...
Mutations in MEF2A have been implicated in an autosomal dominant form of coronary artery disease (adCAD1). In this study we sought to determine whether severe mutations in MEF2A might also explain...
Lack of Support for the Association between GAD2 Polymorphisms and Severe Human Obesity
Swarbrick, Michael M, Waldenmaier, Björn, Pennacchio, Len A, Lind, Denise L, Cavazos, Martha M, Geller, Frank, ...
The demonstration of association between common genetic variants and chronic human diseases such as obesity could have profound implications for the prediction, prevention, and treatment of these...
Medical Sequencing at the Extremes of Human Body Mass
Ahituv, Nadav, Kavaslar, Nihan, Schackwitz, Wendy, Ustaszewska, Anna, Martin, Joel, Hébert, Sybil, ...
Body weight is a quantitative trait with significant heritability in humans. To identify potential genetic contributors to this phenotype, we resequenced the coding exons and splice junctions of 58...