Hum Mol Genet

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  Publication Venue For

  • Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations..  32:907-916. 2023
  • The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder..  31:2934-2950. 2022
  • Association with HLA-DRβ1 position 37 distinguishes juvenile dermatomyositis from adult-onset myositis..  31:2471-2481. 2022
  • Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4..  31:1430-1442. 2022
  • Molecular genetic evaluation of pediatric renovascular hypertension due to renal artery stenosis and abdominal aortic coarctation in neurofibromatosis type 1..  31:334-346. 2022
  • Epigenome-wide association study of mitochondrial genome copy number..  31:309-319. 2021
  • Expanding studies of chromosome structure and function in the era of T2T genomics..  30:R198-R205. 2021
  • Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features..  30:1283-1292. 2021
  • Identification of LRRK2 missense variants in the accelerating medicines partnership Parkinson's disease cohort..  30:454-466. 2021
  • Genome-wide association study of circulating interleukin 6 levels identifies novel loci..  30:393-409. 2021
  • The mechanistic role of alpha-synuclein in the nucleus: impaired nuclear function caused by familial Parkinson's disease SNCA mutations..  29:3107-3121. 2020
  • Serum biomarkers associated with baseline clinical severity in young steroid-naïve Duchenne muscular dystrophy boys..  29:2481-2495. 2020
  • Identification and activity of the functional complex between hnRNPL and the pseudoexfoliation syndrome-associated lncRNA, LOXL1-AS1..  29:1986-1995. 2020
  • Fenofibrate rapidly decreases hepatic lipid and glycogen storage in neonatal mice with glycogen storage disease type Ia..  29:286-294. 2020
  • Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins..  28:3724-3733. 2019
  • Gene therapy for glycogen storage diseases..  28:R31-R41. 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
  • A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect..  28:2093-2106. 2019
  • Titin truncations lead to impaired cardiomyocyte autophagy and mitochondrial function in vivo..  28:1971-1981. 2019
  • Corrigendum: Loss of LDAH associated with prostate cancer and hearing loss..  28:1753-1754. 2019
  • The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation..  28:1726-1737. 2019
  • Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions..  28:1474-1486. 2019
  • PD-linked CHCHD2 mutations impair CHCHD10 and MICOS complex leading to mitochondria dysfunction..  28:1100-1116. 2019
  • Multiplication of the SNCA locus exacerbates neuronal nuclear aging..  28:407-421. 2019
  • Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia..  28:143-154. 2019
  • Loss of LDAH associated with prostate cancer and hearing loss..  27:4194-4203. 2018
  • Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder..  27:2454-2465. 2018
  • Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma..  27:1486-1496. 2018
  • Differentially expressed microRNAs in the aqueous humor of patients with exfoliation glaucoma or primary open-angle glaucoma..  27:1263-1275. 2018
  • LRRK2 phosphorylates membrane-bound Rabs and is activated by GTP-bound Rab7L1 to promote recruitment to the trans-Golgi network..  27:385-395. 2018
  • LRRK2 G2019S-induced mitochondrial DNA damage is LRRK2 kinase dependent and inhibition restores mtDNA integrity in Parkinson's disease..  26:4340-4351. 2017
  • Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147..  26:4203-4214. 2017
  • Maternal BMI at the start of pregnancy and offspring epigenome-wide DNA methylation: findings from the pregnancy and childhood epigenetics (PACE) consortium..  26:4067-4085. 2017
  • CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish..  26:2335-2345. 2017
  • EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome..  26:2177-2191. 2017
  • Detection of genetic loci associated with plasma fetuin-A: a meta-analysis of genome-wide association studies from the CHARGE Consortium..  26:2156-2163. 2017
  • Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels..  26:1770-1784. 2017
  • Interaction of the polyglutamine protein ataxin-3 with Rad23 regulates toxicity in Drosophila models of Spinocerebellar Ataxia Type 3..  26:1419-1431. 2017
  • Therapeutic potential of AAV-mediated MMP-3 secretion from corneal endothelium in treating glaucoma..  26:1230-1246. 2017
  • Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos..  26:1193-1204. 2017
  • Genome-wide association study of Parkinson's disease in East Asians..  26:226-232. 2017
  • Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level..  25:5244-5253. 2016
  • Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos..  25:5035-5045. 2016
  • Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans..  25:4350-4368. 2016
  • An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression..  25:3863-3876. 2016
  • Cancer-associated isocitrate dehydrogenase mutations induce mitochondrial DNA instability..  25:3524-3538. 2016
  • Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk..  25:3600-3612. 2016
  • 14-3-3 Proteins regulate mutant LRRK2 kinase activity and neurite shortening..  25:109-122. 2016
  • Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus..  24:6552-6563. 2015
  • Shared genetics underlying epidemiological association between endometriosis and ovarian cancer..  24:5955-5964. 2015
  • Genomic analysis reveals distinct mechanisms and functional classes of SOX10-regulated genes in melanocytes..  24:5433-5450. 2015
  • Gene × dietary pattern interactions in obesity: analysis of up to 68 317 adults of European ancestry..  24:4728-4738. 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
  • Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci..  24:3595-3607. 2015
  • L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome..  24:1540-1555. 2015
  • Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci..  24:1791-1800. 2015
  • ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells..  24:609-624. 2015
  • Peripheral nerve and neuromuscular junction pathology in Pompe disease..  24:625-636. 2015
  • Association of exome sequences with plasma C-reactive protein levels in >9000 participants..  24:559-571. 2015
  • FTO genetic variants, dietary intake and body mass index: insights from 177,330 individuals..  23:6961-6972. 2014
  • CMPK1 and RBP3 are associated with corneal curvature in Asian populations..  23:6129-6136. 2014
  • Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract..  23:6119-6128. 2014
  • Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index..  23:5492-5504. 2014
  • Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia..  23:5009-5016. 2014
  • The genetic contributions of SNCA and LRRK2 genes to Lewy Body pathology in Alzheimer's disease..  23:4814-4821. 2014
  • Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis..  23:4357-4370. 2014
  • A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice..  23:3792-3800. 2014
  • Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations..  23:3891-3897. 2014
  • A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort..  23:3343-3348. 2014
  • Meta-analysis of loci associated with age at natural menopause in African-American women..  23:3327-3342. 2014
  • Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium..  23:3054-3068. 2014
  • Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders..  23:1563-1578. 2014
  • A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2..  23:1108-1119. 2014
  • Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies..  23:546-554. 2014
  • Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis..  22:5107-5120. 2013
  • Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia..  22:5288-5294. 2013
  • A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk..  22:5056-5064. 2013
  • LRRK2 secretion in exosomes is regulated by 14-3-3..  22:4988-5000. 2013
  • Methylomics of gene expression in human monocytes..  22:5065-5074. 2013
  • Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus..  22:4653-4660. 2013
  • PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease..  22:4224-4232. 2013
  • The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study..  22:3583-3596. 2013
  • Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans..  22:2948-2959. 2013
  • Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error..  22:2754-2764. 2013
  • Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls..  22:2539-2550. 2013
  • Comparing methods for performing trans-ethnic meta-analysis of genome-wide association studies..  22:2303-2311. 2013
  • Exploring the genetic basis of chronic periodontitis: a genome-wide association study..  22:2312-2324. 2013
  • Genetic variation associated with circulating monocyte count in the eMERGE Network..  22:2119-2127. 2013
  • A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A..  22:1903-1910. 2013
  • A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease..  22:408-415. 2013
  • Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans..  21:5385-5394. 2012
  • Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function..  21:5329-5343. 2012
  • Genome-wide association analysis identifies TYW3/CRYZ and NDST4 loci associated with circulating resistin levels..  21:4774-4780. 2012
  • Individual common variants exert weak effects on the risk for autism spectrum disorders..  21:4781-4792. 2012
  • Pharmacogenomics of adverse drug reactions: implementing personalized medicine..  21:R58-R65. 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
  • Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations..  21:437-445. 2012
  • Genome-wide association study identifies novel loci predisposing to cutaneous melanoma..  20:5012-5023. 2011
  • Allele-specific distribution of RNA polymerase II on female X chromosomes..  20:3964-3973. 2011
  • Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore..  20:3693-3698. 2011
  • Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma..  20:3718-3724. 2011
  • Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling..  20:2914-2927. 2011
  • Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3..  20:3093-3108. 2011
  • Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk..  20:2673-2679. 2011
  • Genetic variation in insulin-like growth factor 2 may play a role in ovarian cancer risk..  20:2263-2272. 2011
  • Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area..  20:1864-1872. 2011
  • Pompe disease gene therapy..  20:R61-R68. 2011
  • KASH protein Syne-2/Nesprin-2 and SUN proteins SUN1/2 mediate nuclear migration during mammalian retinal development..  20:1061-1073. 2011
  • Collagen-related genes influence the glaucoma risk factor, central corneal thickness..  20:649-658. 2011
  • Absence of progeria-like disease phenotypes in knock-in mice expressing a non-farnesylated version of progerin..  20:436-444. 2011
  • Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV..  20:455-465. 2011
  • A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease..  20:211-222. 2011
  • Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration..  20:322-335. 2011
  • Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels..  19:4296-4303. 2010
  • Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12,566 individuals..  19:4286-4295. 2010
  • A genome-wide scan for common alleles affecting risk for autism..  19:4072-4082. 2010
  • Allele-specific and heritable chromatin signatures in humans..  19:R204-R209. 2010
  • Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome..  19:3721-3733. 2010
  • Aging-related atherosclerosis is exacerbated by arterial expression of tumor necrosis factor receptor-1: evidence from mouse models and human association studies..  19:2754-2766. 2010
  • An accumulation of non-farnesylated prelamin A causes cardiomyopathy but not progeria..  19:2682-2694. 2010
  • Genome-wide association identifies ATOH7 as a major gene determining human optic disc size..  19:2716-2724. 2010
  • Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia..  19:1883-1896. 2010
  • Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease..  18:4781-4790. 2009
  • Genetic association of FOXO1A and FOXO3A with longevity trait in Han Chinese populations..  18:4897-4904. 2009
  • A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB..  18:4650-4661. 2009
  • Pharmacological activation of PPARbeta/delta stimulates utrophin A expression in skeletal muscle fibers and restores sarcolemmal integrity in mature mdx mice..  18:4640-4649. 2009
  • RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis..  18:4329-4339. 2009
  • DNMT3B interacts with constitutive centromere protein CENP-C to modulate DNA methylation and the histone code at centromeric regions..  18:3178-3193. 2009
  • Disc1 regulates granule cell migration in the developing hippocampus..  18:3286-3297. 2009
  • Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human alpha-synuclein in transgenic mouse brain..  18:3274-3285. 2009
  • Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study..  18:2297-2304. 2009
  • A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis..  18:1524-1532. 2009
  • Expansion of the human mu-opioid receptor gene architecture: novel functional variants..  18:1037-1051. 2009
  • Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis..  18:919-930. 2009
  • Stabilization of beta-catenin in XY gonads causes male-to-female sex-reversal..  17:2949-2955. 2008
  • Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study..  17:2320-2328. 2008
  • A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy..  17:2118-2131. 2008
  • C3 R102G polymorphism increases risk of age-related macular degeneration..  17:1821-1824. 2008
  • Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasets..  17:1318-1328. 2008
  • Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration..  17:971-977. 2008
  • Fine mapping of the  -T catenin gene to a quantitative trait locus on chromosome 10 in late-onset Alzheimer's disease pedigrees.  12:3133-3143. 2003