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...
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...
Medical Sequencing at the extremes of Human Body Mass (2006)
Ahituv, Nadav, Kavaslar, Nihan, Schackwitz, Wendy, Ustaszewski, Anna, Martin, Joes, Hebert, 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...
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...
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...
Genetic and neural processing of the dauer pheromone response in Caenorhabditis elegans / (1996)
Thesis (Ph. D.)--University of Washington, 1996.
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 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...
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...
Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy
Zhang, Zhen, Alpert, Deanne, Francis, Richard, Chatterjee, Bishwanath, Yu, Qing, Tansey, Terry, ...
Forward genetic screens with ENU (N-ethyl-N-nitrosourea) mutagenesis can facilitate gene discovery, but mutation identification is often difficult. We present the first study in which an ENU- induced...