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Macrocephaly and developmental delay caused by missense variants in RAB5C

Human molecular genetics, 2023-10, Vol.32 (21), p.3063-3077

2023

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Gene expression variation in the adult human retina

Human molecular genetics, 2003-11, Vol.12 (22), p.2881-2893

2003

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Genetic variation in the 15q25 nicotinic acetylcholine receptor gene cluster (CHRNA5― CHRNA3―CHRNB4) interacts with maternal self-reported smoking status during pregnancy to influence birth weight

Human molecular genetics, 2012-12, Vol.21 (24), p.5344-5358

2012

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Multi-ethnic fine-mapping of 14 central adiposity loci

Human molecular genetics, 2014-09, Vol.23 (17), p.4738-4744

2014

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Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein

Human molecular genetics, 2009-01, Vol.18 (1), p.51-64

2009

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Discovery of susceptibility loci associated with tuberculosis in Han Chinese

Human molecular genetics, 2017-12, Vol.26 (23), p.4752-4763

2017

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A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression

Human molecular genetics, 2014-12, Vol.23 (23), p.6345-6355

2014

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Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor

Human molecular genetics, 2015-07, Vol.24 (14), p.4138-4146

2015

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Systematic changes in gene expression in postmortem human brains associated with tissue pH and terminal medical conditions

Human molecular genetics, 2004-03, Vol.13 (6), p.609-616

2004

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Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans

Human molecular genetics, 2016-10, Vol.25 (19), p.4350-4368

2016

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Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis

Human molecular genetics, 2004-01, Vol.13 (1), p.35-45

2004

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A Pro51Ser Mutation in the COCH Gene is Associated With Late Onset Autosomal Dominant Progressive Sensorineural Hearing Loss With Vestibular Defects

Human molecular genetics, 1999-02, Vol.8 (2), p.361-366

1999

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Spontaneous deletion of epilepsy gene orthologs in a mutant mouse with a low electroconvulsive threshold

Human molecular genetics, 2003-05, Vol.12 (9), p.975-984

2003

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Application of statistical and functional methodologies for the investigation of genetic determinants of coronary heart disease biomarkers: lipoprotein lipase genotype and plasma triglycerides as an exemplar

Human molecular genetics, 2010-10, Vol.19 (20), p.3936-3947

2010

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Multiple layers of molecular controls modulate self-renewal and neuronal lineage specification of embryonic stem cells

Human molecular genetics, 2008-04, Vol.17 (R1), p.R67-R75

2008

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The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

Human molecular genetics, 2000-09, Vol.9 (14), p.2095-2105

2000

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Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25

Human molecular genetics, 2015-02, Vol.24 (4), p.1169-1176

2015

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Cancer epigenetics

Human molecular genetics, 2005-04, Vol.14 (suppl-1), p.R65-R76

LAIRD, Peter W

2005

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Calcium binding is essential for plastin 3 function in Smn-deficient motoneurons

Human molecular genetics, 2014-04, Vol.23 (8), p.1990-2004

2014

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Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation

Human molecular genetics, 2015-05, Vol.24 (9), p.2442-2457

2015

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Epigenome-wide association study of mitochondrial genome copy number

Human molecular genetics, 2021-12, Vol.31 (2), p.309-319

2021

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A novel, putative gain-of-function haplotype at SLC6A4 associates with obsessive-compulsive disorder

Human molecular genetics, 2008-03, Vol.17 (5), p.717-723

2008

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The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction

Human molecular genetics, 2023-01, Vol.32 (1), p.151-160

2023

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Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

Human molecular genetics, 2014-06, Vol.23 (11), p.3054-3068

2014

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A comprehensive examination of breast cancer risk loci in African American women

Macrocephaly and developmental delay caused by missense variants in RAB5C

Gene expression variation in the adult human retina

Genetic variation in the 15q25 nicotinic acetylcholine receptor gene cluster (CHRNA5― CHRNA3―CHRNB4) interacts with maternal self-reported smoking status during pregnancy to influence birth weight

Multi-ethnic fine-mapping of 14 central adiposity loci

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein

Discovery of susceptibility loci associated with tuberculosis in Han Chinese

A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression

Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor

Systematic changes in gene expression in postmortem human brains associated with tissue pH and terminal medical conditions

Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans

Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis

A Pro51Ser Mutation in the COCH Gene is Associated With Late Onset Autosomal Dominant Progressive Sensorineural Hearing Loss With Vestibular Defects

Spontaneous deletion of epilepsy gene orthologs in a mutant mouse with a low electroconvulsive threshold

Application of statistical and functional methodologies for the investigation of genetic determinants of coronary heart disease biomarkers: lipoprotein lipase genotype and plasma triglycerides as an exemplar

Multiple layers of molecular controls modulate self-renewal and neuronal lineage specification of embryonic stem cells

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25

Cancer epigenetics

Calcium binding is essential for plastin 3 function in Smn-deficient motoneurons

Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation

Epigenome-wide association study of mitochondrial genome copy number

A novel, putative gain-of-function haplotype at SLC6A4 associates with obsessive-compulsive disorder

The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

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