Author details

Full Name

Andrew Kirby

Affiliation

ORCID

Career Start Year

1980

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
29517003	Corrigendum: Landscape of X chromosome inactivation across human tissues.	Nature	2018
29022598	Landscape of X chromosome inactivation across human tissues.	Nature	2017
28324015	Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty.	J Clin Endocrinol Metab	2017
27199131	Androgen-sensitive hypertension associated with soluble guanylate cyclase-Î±1 deficiency is mediated by 20-HETE.	Am J Physiol Heart Circ Physiol	2016
25023143	The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort.	Mol Psychiatry	2015
25062598	Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.	J Am Acad Child Adolesc Psychiatry	2014
24586781	Pathway analyses implicate glial cells in schizophrenia.	PLoS One	2014
25033836	(Epi)Genetic analyses of age-related macular degeneration: case-control and discordant twin studies.	Hum Hered	2014
25086666	A framework for the interpretation of de novo mutation in human disease.	Nat Genet	2014
23656588	Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.	N Engl J Med	2013
23902945	Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency.	J Clin Endocrinol Metab	2013
24204323	Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches.	PLoS Genet	2013
23396133	Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.	Nat Genet	2013
23352160	Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.	Neuron	2013
23114594	DGAT1 mutation is linked to a congenital diarrheal disorder.	J Clin Invest	2012
22748208	A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.	Am J Hum Genet	2012
22348269	Autosomal monoallelic expression in the mouse.	Genome Biol	2012
22388000	Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration.	Nat Genet	2012
22495311	Patterns and rates of exonic de novo mutations in autism spectrum disorders.	Nature	2012
22521361	Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.	Cell	2012
21983784	Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.	Nat Genet	2011
21473983	Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.	Am J Hum Genet	2011
20127486	Genetic resistance to diet-induced obesity in chromosome substitution strains of mice.	Mamm Genome	2010
19846609	ProPhylER: a curated online resource for protein function and structure based on evolutionary constraint analyses.	Genome Res	2010
20439770	Fine mapping in 94 inbred mouse strains using a high-density haplotype resource.	Genetics	2010
18784733	Multigenic control of tuberculosis resistance: analysis of a QTL on mouse chromosome 7 and its synergism with sst1.	Genes Immun	2009
18317468	Whole-genome association study of bipolar disorder.	Mol Psychiatry	2008
19066216	Genetic architecture of complex traits: large phenotypic effects and pervasive epistasis.	Proc Natl Acad Sci U S A	2008
18256236	A survey of allelic imbalance in F1 mice.	Genome Res	2008
18385116	Efficient control of population structure in model organism association mapping.	Genetics	2008
18373861	Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes.	BMC Genetics	2008
18180429	Family-based association study of lithium-related and other candidate genes in bipolar disorder.	Arch Gen Psychiatry	2008
18776908	Integrated detection and population-genetic analysis of SNPs and copy number variation.	Nat Genet	2008
17628448	Heart development in fibronectin-null mice is governed by a genetic modifier on chromosome four.	Mech Dev	2007
17170255	Histocompatible embryonic stem cells by parthenogenesis.	Science	2007
16452998	Genetic architecture of tuberculosis resistance in a mouse model of infection.	Genes Immun	2006
16570073	Haplotype-based association analysis of 56 functional candidate genes in the IBD6 locus on chromosome 19.	Eur J Hum Genet	2006
16172613	Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia.	Mol Psychiatry	2005
15545978	Support for involvement of neuregulin 1 in schizophrenia pathophysiology.	Mol Psychiatry	2005
16080120	A high-density screen for linkage in multiple sclerosis.	Am J Hum Genet	2005
15998716	Two quantitative trait loci for prepulse inhibition of startle identified on mouse chromosome 16 using chromosome substitution strains.	Genetics	2005
14976156	Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs.	Hum Mol Genet	2004
14699422	Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis.	Mol Psychiatry	2004
15060841	Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay: a comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22.	Am J Hum Genet	2004
15108176	Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: fine mapping adds support on chromosomes 6 and 11.	Am J Med Genet B Neuropsychiatr Genet	2004
12921146	Etiology of pulmonary infections in predominantly HIV-infected adults with suspected tuberculosis, Botswana.	International Journal of Tuberculosis and Lung Disease	2003
11791216	Genomewide search for type 2 diabetes mellitus susceptibility loci in Finnish families: the Botnia study.	Am J Hum Genet	2002
12466850	Initial sequencing and comparative analysis of the mouse genome.	Nature	2002
12466852	The mosaic structure of variation in the laboratory mouse genome.	Nature	2002
11425003	Simulation studies of detection of a complex disease in a partially isolated population.	Am J Med Genet	2001