Human Molecular Genetics

A Polynesian-specific copy number variant encompassing the MHC Class I Polypeptide-related Sequence A (MICA) gene associates with gout. 2022

Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: Results from the developmental synaptopathies consortium.  31:625-637. 2022

Genome-wide association study of circulating interleukin 6 levels identifies novel loci.  30:393-409. 2021

A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities.  30:234-246. 2021

DOCK3 is a dosage-sensitive regulator of skeletal muscle and Duchenne muscular dystrophy-associated pathologies.  29:2855-2871. 2020

Skewed allelic expression on X chromosome associated with aberrant expression of XIST on systemic lupus erythematosus lymphocytes.  29:2523-2534. 2020

Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control.  29:923-943. 2020

Progressive cardiac arrhythmias and ECG abnormalities in the Huntington's disease BACHD mouse model.  29:369-381. 2020

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.  28:2937-2951. 2019

A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.  28:2615-2633. 2019

Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy.  28:2365-2377. 2019

Corrigendum: Identification and validation of seven new loci showing differential DNA methylation related to serum lipid profile: An epigenome-wide approach. The REGICOR study (Human Molecular Genetics (2018) 25:20 (4556-4565) DOI: 10.1093/hmg/ddw285).  28:1402. 2019

Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.  28:858-874. 2019

Mutant huntingtin reduction in astrocytes slows disease progression in the BACHD conditional Huntington’s disease mouse model.  28:487-500. 2019

Suppression of myopathic lamin mutations by muscle-specific activation of AMPK and modulation of downstream signaling.  28:351-371. 2019

Distinct functional roles of Vps41-mediated neuroprotection in Alzheimer's and Parkinson's disease models of neurodegeneration.  27:4176-4193. 2018

A non-coding genetic variant maximally associated with serum urate levels is functionally linked to HNF4A-dependent PDZK1 expression.  27:3964-3973. 2018

Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans.  27:3813-3824. 2018

Ulk2 controls cortical excitatory-inhibitory balance via autophagic regulation of p62 and GABAA receptor trafficking in pyramidal neurons.  27:3165-3176. 2018

Discovery, fine-mapping, and conditional analyses of genetic variants associated with C-reactive protein in multiethnic populations using the Metabochip in the Population Architecture using Genomics and Epidemiology (PAGE) study.  27:2940-2953. 2018

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.  27:2454-2465. 2018

A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.  27:2392-2404. 2018

Alpha-synuclein inhibits Snx3-retromer-mediated retrograde recycling of iron transporters in S. cerevisiae and C. elegans models of Parkinson's disease.  27:1514-1532. 2018

Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.  27:1055-1066. 2018

A modifier of Huntington's disease onset at the MLH1 locus.  26:3859-3867. 2017

NCEH-1 modulates cholesterol metabolism and protects against α-synuclein toxicity in a C. elegans model of Parkinson's disease.  26:3823-3836. 2017

Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences.  26:3116-3129. 2017

RNA expression in human retina.  26:R68-R74. 2017

Epigenome-wide association study of rheumatoid arthritis identifies differentially methylated loci in B cells.  26:2803-2811. 2017

BDNF overexpression prevents cognitive deficit elicited by adolescent cannabis exposure and host susceptibility interaction.  26:2462-2471. 2017

Bimodal regulation of Dishevelled function by Vangl2 during morphogenesis.  26:2053-2061. 2017

A Drosophila model system to assess the function of human monogenic podocyte mutations that cause nephrotic syndrome.  26:768-780. 2017

Identification and validation of seven new loci showing differential DNA methylation related to serum lipid profile: An epigenome-wide approach. The REGICOR study.  25:4556-4565. 2016

Identification and validation of seven new loci showing differential DNA methylation related to serum lipid profile: an epigenome-wide approach. The REGICOR study. 2016

Identification of genetic modifiers of age-at-onset for familial Parkinson's disease.  25:3849-3862. 2016

In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.  25:2552-2563. 2016

Allelic series of Huntington's disease knock-in mice reveals expression discorrelates.  25:1619-1636. 2016

Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes.  25:1663-1676. 2016

A critical period of vulnerability to adolescent stress: Epigenetic mediators in mesocortical dopaminergic neurons.  25:1370-1381. 2016

Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions.  25:484-496. 2016

14-3-3 Proteins regulate mutant LRRK2 kinase activity and neurite shortening.  25:109-122. 2016

The Alzheimer’s disease risk factor CD2AP maintains blood–brain barrier integrity.  24:6667-6674. 2015

Vapb/Amyotrophic lateral sclerosis 8 knock-in mice display slowly progressive motor behavior defects accompanying ER stress and autophagic response.  24:6515-6529. 2015

Genomic analysis reveals distinct mechanisms and functional classes of SOX10-regulated genes in melanocytes.  24:5433-5450. 2015

Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine: Glyoxylate aminotransferase causing primary hyperoxaluria type I.  24:5500-5511. 2015

Epigenome-wide association study (EWAS) of BMI, BMI change and waist circumference in African American adults identifies multiple replicated loci.  24:4464-4479. 2015

Erratum: Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling (Human Molecular Genetics (2014) 23 (7) (1869–1878) DOI: 10.1093/hmg/ddt579).  24:4480-4481. 2015

The G2019S LRRK2 mutation increases myeloid cell chemotactic responses and enhances LRRK2 binding to actin-regulatory proteins.  24:4250-4267. 2015

Leucine-rich repeat kinase 2 deficiency is protective in rhabdomyolysis-induced kidney injury.  24:4078-4093. 2015

A common variant near TGFBR3 is associated with primary open angle glaucoma.  24:3880-3892. 2015

Loss of Wnt5a disrupts second heart field cell deployment and may contribute to OFT malformations in DiGeorge syndrome.  24:1704-1716. 2015

Epigenetic dysregulation of hairy and enhancer of split 4 (HES4) is associated with striatal degeneration in postmortem Huntington brains.  24:1441-1456. 2015

Glutaredoxin deficiency exacerbates neurodegeneration in C. Elegans models of Parkinson's disease.  24:1322-1335. 2015

The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.  24:582-596. 2015

Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.  24:3518-3528. 2015

Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome.  24:154-166. 2015

A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.  23:6927-6934. 2014

OXPHOS dysfunction regulates integrin-β1 modifications and enhances cell motility and migration.  24:1977-1990. 2014

Abundant local interactions in the 4p16.1 region suggest functional mechanisms underlying SLC2A9 associations with human serum uric acid.  23:5061-5068. 2014

Multi-ethnic fine-mapping of 14 central adiposity loci.  23:4738-4744. 2014

Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling.  23:1869-1878. 2014

Comprehensive analysis of gene expression in human retina and supporting tissues.  23:4001-4014. 2014

LRRK2 secretion in exosomes is regulated by 14-3-3.  22:4988-5000. 2013

A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci..  22:4021-4029. 2013

A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm.  22:2941-2947. 2013

Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function.  22:2626-2633. 2013

Subcortical dopaminergic deficits in a DISC1 mutant model: A study in direct reference to human molecular brain imaging.  22:1574-1580. 2013

Kinase inhibitors arrest neurodegeneration in cell and C. elegans models of LRRK2 toxicity.  22:328-344. 2013

Identification of novel ATP13A2 interactors and their role in α-synuclein misfolding and toxicity.  21:3785-3794. 2012

Motor restlessness, sleep disturbances, thermal sensory alterations and elevated serum iron levels in BTBD9 mutant mice.  21:3984-3992. 2012

Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.  21:4115-4125. 2012

LRRK2 regulates mitochondrial dynamics and function through direct interaction with DLP1.  21:1931-1944. 2012

Meta-analysis confirms a role for deletion in FCGR3B in autoimmune phenotypes.  21:2370-2376. 2012

Nxnl2 splicing results in dual functions in neuronal cell survival and maintenance of cell integrity.  21:2298-2311. 2012

The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response.  21:1201. 2012

Evidence for a role of the rare p.A152T variant in mapt in increasing the risk for FTD-spectrum and Alzheimer's diseases.  21:3500-3512. 2012

Fine-mapping classical HLA variation associated with durable host control of HIV-1 infection in african americans.  21:4334-4347. 2012

Increased hedgehog signaling in postnatal kidney results in aberrant activation of nephron developmental programs.  20:4155-4166. 2011

Allele-specific distribution of RNA polymerase II On female X chromosomes.  20:3964-3973. 2011

Inhibitors of LRRK2 kinase attenuate neurodegeneration and Parkinson-like phenotypes in Caenorhabditis elegans and Drosophila Parkinson's disease models.  20:3933-3942. 2011

Assessing the pathogenic potential of human nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.  20:2942-2954. 2011

Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study..  20:2273-2284. 2011

Puromycin-sensitive aminopeptidase (PSA/NPEPPS) impedes development of neuropathology in HPSA/TAU^P301L double-transgenic mice.  20:1820-1833. 2011

Cyclin-G-associated kinase modifies α-synuclein expression levels and toxicity in Parkinson's disease: Results from the GenePD Study.  20:1478-1487. 2011

Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B.  20:271-285. 2011

A strong role for the ABCG2 gene in susceptibility to gout in New Zealand Pacific Island and Caucasian, but not Māori, case and control sample sets.  19:4813-4819. 2010

Refining the association of MHC with multiple sclerosis in African Americans.  19:3080-3088. 2010

The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response.  19:3502-3515. 2010

Drug screening to identify suppressors of GFAP expression.  19:3169-3178. 2010

Definitive hematopoiesis requires Runx1 C-terminal-mediated subnuclear targeting and transactivation.  19:1048-1057. 2010

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset.  18:3039-3047. 2009

Evaluation of imputation-based association in and around the integrin-α-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE).  18:1171-1180. 2009

A Runx2 threshold for the cleidocranial dysplasia phenotype.  18:556-568. 2009

Admixture mapping of quantitative trait loci for blood lipids in African-Americans.  18:2091-2098. 2009

Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease.  17:3897-3908. 2008

Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study.  17:2320-2328. 2008

Genetic variation in the CRP promoter: Association with systemic lupus erythematosus.  17:1147-1155. 2008

Erratum: MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor1 and angiotensin II (Human Molecular Genetics (2007) vol. 16 (20) (2453-2462) 10.1093/hmg/ddm201).  17:158. 2008

Erratum: Evidence by allelic association-dependent methods for a type 1 diabetes polygene (IDDM6) on chromosome 18q21 (Human Molecular Genetics (1997) vol. 6(7) (1003-1010)).  16:3197. 2007

Erratum: Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11 (Human Molecular Genetics (1997) vol. 6(7) (1011-1016)).  16:3198. 2007

Genome-wide linkage analysis of 723 affected relative pairs with late-onset Alzheimer's disease.  16:2703-2712. 2007

MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.  16:2453-2462. 2007

Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function.  16:1307-1318. 2007

Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia.  16:424-430. 2007

Wild-type huntingtin participates in protein trafficking between the Golgi and the extracellular space.  16:391-409. 2007

Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity.  16:223-232. 2007

Lmo7 is an emerin-binding protein that regulates the transcription of emerin and many other muscle-relevant genes.  15:3459-3472. 2006

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.  15:2988-3001. 2006

Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice.  15:2015-2024. 2006

Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.  15:1015-1023. 2006

Polymorphisms in the PON gene cluster are associated with Alzheimer disease.  15:77-85. 2006

HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism.  14:2871-2880. 2005

Hsp90 and environmental impacts on epigenetic states: A model for the trans-generational effects of diethylstibesterol on uterine development and cancer.  14. 2005

The impact of metabolism on DNA methylation.  14. 2005

Transcriptional dysregulation in striatal projection- and interneurons in a mouse model of Huntington's disease: Neuronal selectivity and potential neuroprotective role of HAP1.  14:179-189. 2005

Epileptic-like convulsions associated with LIS-1 in the cytoskeletal control of neurotransmitter signaling in Caenorhabditis elegans.  13:2043-2059. 2004

Systematic changes in gene expression in postmortem human brains associated with tissue pH and terminal medical conditions.  13:609-616. 2004

Erratum: Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease (Human Molecular Genetics (2003) vol. 12 (3259-3267)).  13:573. 2004

Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: A reappraisal of the human disease sequence.  13:525-534. 2004

Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease.  12:3259-3267. 2003

Genetic association of Alzheimer's disease with multiple polymorphisms in alpha-2-macroglobulin.  12:2765-2776. 2003

Linkage and association with pulmonary function measures on chromosome 6q27 in the Framingham Heart Study.  12:2745-2751. 2003

Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families.  12:2599-2608. 2003

Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins.  12:307-319. 2003

Results of a high-resolution genome screen of 437 Alzheimer's Disease families.  12:23-32. 2003

Mutations in TITF-1 are associated with benign hereditary chorea.  11:971-979. 2002

Exchange of surface proteins impacts on viral vector cellular specificity and transduction characteristics: The retina as a model.  10:3075-3081. 2001

Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes.  10:1867-1871. 2001

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation.  10:1591-1600. 2001

Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of α-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.  10:291-299. 2001

Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: A genome-wide scan in the Framingham Study.  9:1315-1320. 2000

A putative Drosophila homolog of the Huntington's disease gene.  8:1807-1815. 1999

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.  8:1461-1472. 1999

A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice.  8:763-774. 1999

Impaired synaptic plasticity in mice carrying the Huntington's disease mutation.  8:839-846. 1999

The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.  8:2479-2488. 1999

Transmission of haplotypes of microsatellite markers rather than single marker alleles in the mapping of a putative type 1 diabetes susceptibility gene (IDDM6).  7:517-524. 1998

A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22.  6:1937-1941. 1997

CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11β- hydroxylase deficiency.  6:1829-1834. 1997

Evidence by allelic association-dependent methods for a type 1 diabetes polygene (IDDM6) on chromosome 18q21.  6:1003-1010. 1997

Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11.  6:1011-1016. 1997

The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility.  6:1017-1020. 1997

Reduced penetrance of the Huntington's disease mutation.  6:775-779. 1997

Molecular Characterization of Breakpoints in Patients with Holoprosencephaly and Definition of the HPE2 Critical Region 2p21.  5:223-229. 1996

Mutation of the glucagon receptor gene and diabetes mellitus in the UK: Association or founder effect?.  4:1609-1612. 1995

Blepharophimosis syndrome is linked to chromosome 3q.  4:443-448. 1995

Evidence from antibody studies that the CAG repeat in the huntington disease gene is expressed in the protein.  4:465-469. 1995

Mutations in FGFR1 and FGFR2 cause familial and sporadic pfeiffer syndrome.  4:323-328. 1995

Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity.  4:269-273. 1995

Reports: Linkage of pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity.  3:2153-2158. 1994

Identification of a CFTR frameshift mutation (1013 delAA) in trans to ΔF508 in a pancreatic sufficient cystic fibrosis patient.  3:2063-2064. 1994

A high resolution physical map of 2.5 Mbp of the down syndrome region on chromosome 21.  3:1811-1817. 1994

A transcript map of the down syndrome critical region on chromosome 21.  3:1735-1742. 1994

Identification of genes within CpG-enriched DNA from human chromosome 4p16.3.  3:1611-1616. 1994

Isolation of yeast artificial chromosome clones from 54 polymorphic loci mapped with high odds on human chromosome 4.  3:243-246. 1994

Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR.  2:1253-1261. 1993

The development of sequence-tagged sites for human chromosome 4.  2:1271-1288. 1993

Construction of cosmid contigs and high-resolution restriction mapping of the huntington disease region of human chromosome 4.  2:889-899. 1993

Lack of independence between five DNA polymorphisms in the NF1 gene.  2:485. 1993

Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a camp-activated chloride conductance.  2:225-230. 1993

Cloning of the huntington disease region in yeast artificial chromosomes.  1:149-159. 1992