Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

…, CN Pato, JL Stone, DM Ruderfer, AN Kirby… - Nature, 2009 - nature.com
Schizophrenia is a severe mental disorder with a lifetime risk of about 1%, characterized by
hallucinations, delusions and cognitive deficits, with heritability estimated at up to 80% 1 , 2 . …

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

…, R Towers, M Gleeson, C Steiger, A Kirby - Journal of medical …, 2007 - jmg.bmj.com
Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal
dominant pattern of inheritance. The complications are diverse and disease expression varies, …

Gemini surfactants: new synthetic vectors for gene transfection

AJ Kirby, P Camilleri, JBFN Engberts… - Angewandte Chemie …, 2003 - Wiley Online Library
The superior surfactant properties of cationic gemini surfactants are applied to the complex
problem of introducing genes into cells. Of almost 250 new compounds tested, of some 20 …

Enzyme mechanisms, models, and mimics

AJ Kirby - Angewandte Chemie International Edition in English, 1996 - Wiley Online Library
Clean and efficient chemical reactions with complete control of stereochemistry are normal
for enzymes. Nature's supreme catalysts can teach us a great deal about designing artificial …

[HTML][HTML] Clinical whole-exome sequencing for the diagnosis of mendelian disorders

…, MR Bekheirnia, MS Leduc, A Kirby… - … England Journal of …, 2013 - Mass Medical Soc
Background Whole-exome sequencing is a diagnostic approach for the identification of
molecular defects in patients with suspected genetic disorders. Methods We developed technical…

Patterns and rates of exonic de novo mutations in autism spectrum disorders

…, L Lewis, Y Han, BF Voight, E Lim, E Rossin, A Kirby… - Nature, 2012 - nature.com
Autism spectrum disorders (ASD) are believed to have genetic and environmental origins,
yet in only a modest fraction of individuals can specific causes be identified 1 , 2 . To identify …

Efficient control of population structure in model organism association mapping

HM Kang, NA Zaitlen, CM Wade, A Kirby… - Genetics, 2008 - academic.oup.com
Genomewide association mapping in model organisms such as inbred mouse strains is a
promising approach for the identification of risk factors related to human diseases. However, …

Integrated detection and population-genetic analysis of SNPs and copy number variation

…, MH Shapero, PIW de Bakker, JB Maller, A Kirby… - Nature …, 2008 - nature.com
Dissecting the genetic basis of disease risk requires measuring all forms of genetic variation,
including SNPs and copy number variants (CNVs), and is enabled by accurate maps of …

Findings of the first consensus conference on medical emergency teams

…, M Bell, M Buist, J Chen, J Bion, A Kirby… - Critical care …, 2006 - journals.lww.com
Background: Studies have established that physiologic instability and services mismatching
precede adverse events in hospitalized patients. In response to these considerations, the …

Whole-genome association study of bipolar disorder

…, MB McQueen, SV Faraone, A Kirby… - Molecular …, 2008 - nature.com
We performed a genome-wide association scan in 1461 patients with bipolar (BP) 1 disorder,
2008 controls drawn from the Systematic Treatment Enhancement Program for Bipolar …