| 1 | Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications | 13.9 | 15 | Citations (PDF) |
| 2 | Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications | 13.9 | 45 | Citations (PDF) |
| 3 | Understanding the genetic complexity of puberty timing across the allele frequency spectrum | 25.9 | 34 | Citations (PDF) |
| 4 | Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings | 25.9 | 26 | Citations (PDF) |
| 5 | Genetic insights into resting heart rate and its role in cardiovascular disease | 13.9 | 25 | Citations (PDF) |
| 6 | Stimulation of soluble guanylyl cyclase (sGC) by riociguat attenuates heart failure and pathological cardiac remodelling | 6.4 | 35 | Citations (PDF) |
| 7 | <i>Cis</i>-epistasis at the <i>LPA</i> locus and risk of cardiovascular diseases | 5.5 | 25 | Citations (PDF) |
| 8 | Blood DNA methylation provides an accurate biomarker of<i>KMT2B</i>-related dystonia and predicts onsetBrain, 2022, 145, 644-654 | 8.5 | 40 | Citations (PDF) |
| 9 | Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function | 25.9 | 130 | Citations (PDF) |
| 10 | Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study | 0.3 | 27 | Citations (PDF) |
| 11 | Association of circulating MR-proADM with all-cause and cardiovascular mortality in the general population: Results from the KORA F4 cohort study | 2.4 | 9 | Citations (PDF) |
| 12 | MicroRNA-365 regulates human cardiac action potential duration | 13.9 | 26 | Citations (PDF) |
| 13 | Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis | 13.9 | 35 | Citations (PDF) |
| 14 | Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries | 12.6 | 34 | Citations (PDF) |
| 15 | Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes | 6.6 | 33 | Citations (PDF) |
| 16 | Elucidating the relationship between migraine risk and brain structure using genetic dataBrain, 2022, 145, 3214-3224 | 8.5 | 30 | Citations (PDF) |
| 17 | Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders | 3.0 | 10 | Citations (PDF) |
| 18 | Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases | 10.0 | 32 | Citations (PDF) |
| 19 | Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study | 3.0 | 10 | Citations (PDF) |
| 20 | Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals | 25.9 | 536 | Citations (PDF) |
| 21 | Clinical implementation of RNA sequencing for Mendelian disease diagnostics | 9.8 | 167 | Citations (PDF) |
| 22 | Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study | 0.2 | 0 | Citations (PDF) |
| 23 | Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes | 3.2 | 8 | Citations (PDF) |
| 24 | Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation | 25.9 | 616 | Citations (PDF) |
| 25 | Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency | 3.0 | 5 | Citations (PDF) |
| 26 | Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies | 5.1 | 46 | Citations (PDF) |
| 27 | Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways | 13.9 | 45 | Citations (PDF) |
| 28 | Serum uromodulin is inversely associated with biomarkers of subclinical inflammation in the population-based KORA F4 study | 3.7 | 15 | Citations (PDF) |
| 29 | A homozygous truncating variant in <i>CCDC186</i> in an individual with epileptic encephalopathy | 3.8 | 8 | Citations (PDF) |
| 30 | Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder | 4.4 | 13 | Citations (PDF) |
| 31 | <i>De novo</i> stop-loss variants in <i>CLDN11</i> cause hypomyelinating leukodystrophyBrain, 2021, 144, 411-419 | 8.5 | 24 | Citations (PDF) |
| 32 | Multi-ancestry genome-wide association study accounting for gene-psychosocial factor interactions identifies novel loci for blood pressure traits | 1.7 | 9 | Citations (PDF) |
| 33 | Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline | 5.1 | 86 | Citations (PDF) |
| 34 | Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrumBrain, 2021, 144, e30-e30 | 8.5 | 20 | Citations (PDF) |
| 35 | Congenital heart disease risk loci identified by genome-wide association study in European patients | 9.0 | 83 | Citations (PDF) |
| 36 | DNA methylation and lipid metabolism: an EWAS of 226 metabolic measures | 4.1 | 72 | Citations (PDF) |
| 37 | <i>De novo</i> variants in neurodevelopmental disorders—experiences from a tertiary care center | 2.1 | 99 | Citations (PDF) |
| 38 | Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23 | 2.1 | 83 | Citations (PDF) |
| 39 | Multi-ancestry genome-wide gene–sleep interactions identify novel loci for blood pressure | 8.5 | 22 | Citations (PDF) |
| 40 | MicroRNA-21–Dependent Macrophage-to-Fibroblast Signaling Determines the Cardiac Response to Pressure Overload | 25.3 | 126 | Citations (PDF) |
| 41 | Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B | 2.2 | 6 | Citations (PDF) |
| 42 | Rescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base Editing | 3.6 | 14 | Citations (PDF) |
| 43 | Variants associated with HHIP expression have sex-differential effects on lung function | 1.0 | 3 | Citations (PDF) |
| 44 | A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse | 2.3 | 18 | Citations (PDF) |
| 45 | A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids | 13.9 | 32 | Citations (PDF) |
| 46 | <i>MATR3</i> haploinsufficiency and early-onset neurodegenerationBrain, 2021, 144, e72-e72 | 8.5 | 7 | Citations (PDF) |
| 47 | Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes | 13.9 | 95 | Citations (PDF) |
| 48 | Genetic insights into biological mechanisms governing human ovarian ageing | 39.5 | 343 | Citations (PDF) |
| 49 | Bi-allelic truncating mutations in <i>VWA1</i> cause neuromyopathyBrain, 2021, 144, 574-583 | 8.5 | 33 | Citations (PDF) |
| 50 | Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome | 25.3 | 55 | Citations (PDF) |
| 51 | SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden | 3.5 | 27 | Citations (PDF) |
| 52 | Epigenetics meets proteomics in an epigenome-wide association study with circulating blood plasma protein traits | 13.9 | 79 | Citations (PDF) |
| 53 | Biotinidase deficiency | 2.4 | 7 | Citations (PDF) |
| 54 | Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma | 2.4 | 8 | Citations (PDF) |
| 55 | <i>SCN5A</i>
Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in
<i>SCN5A</i>
Families | 3.4 | 60 | Citations (PDF) |
| 56 | Habitual sleep disturbances and migraine: a Mendelian randomization study | 3.8 | 36 | Citations (PDF) |
| 57 | Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci | 8.5 | 23 | Citations (PDF) |
| 58 | Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome | 25.3 | 129 | Citations (PDF) |
| 59 | Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction | 13.9 | 105 | Citations (PDF) |
| 60 | A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine | 13.9 | 78 | Citations (PDF) |
| 61 | Common and rare susceptibility genetic variants predisposing to Brugada syndrome in Thailand | 2.7 | 35 | Citations (PDF) |
| 62 | DeepWAS: Multivariate genotype-phenotype associations by directly integrating regulatory information using deep learning | 3.2 | 77 | Citations (PDF) |
| 63 | Biallelic loss‐of‐function variants in <i>RBL2</i> in siblings with a neurodevelopmental disorder | 3.8 | 16 | Citations (PDF) |
| 64 | Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes | 3.8 | 23 | Citations (PDF) |
| 65 | A genome-wide analysis of DNA methylation identifies a novel association signal for Lp(a) concentrations in the LPA promoter | 2.4 | 11 | Citations (PDF) |
| 66 | A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions | 2.4 | 10 | Citations (PDF) |
| 67 | Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases | 10.0 | 51 | Citations (PDF) |
| 68 | Cross-trait analyses with migraine reveal widespread pleiotropy and suggest a vascular component to migraine headache | 5.1 | 46 | Citations (PDF) |
| 69 | TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge | 2.2 | 6 | Citations (PDF) |
| 70 | Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS | 3.2 | 19 | Citations (PDF) |
| 71 | Generation of a human induced pluripotent stem cell line (HMGUi002-A) from a healthy male individual | 0.6 | 2 | Citations (PDF) |
| 72 | Effects of Calcium, Magnesium, and Potassium Concentrations on Ventricular Repolarization in Unselected Individuals | 2.4 | 36 | Citations (PDF) |
| 73 | Disentangling the genetics of lean mass | 5.0 | 47 | Citations (PDF) |
| 74 | Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing | 2.4 | 4 | Citations (PDF) |
| 75 | Associations of autozygosity with a broad range of human phenotypes | 13.9 | 117 | Citations (PDF) |
| 76 | Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration | 13.9 | 82 | Citations (PDF) |
| 77 | Phenotypic variability of <i>GABRA1</i>‐related epilepsy in monozygotic twins | 3.8 | 6 | Citations (PDF) |
| 78 | Predicting cardiac electrical response to sodium-channel blockade and Brugada syndrome using polygenic risk scores | 2.1 | 71 | Citations (PDF) |
| 79 | Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria | 13.9 | 207 | Citations (PDF) |
| 80 | Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels | 25.9 | 363 | Citations (PDF) |
| 81 | Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits | 3.2 | 34 | Citations (PDF) |
| 82 | Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions | 3.4 | 110 | Citations (PDF) |
| 83 | Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity | 13.9 | 84 | Citations (PDF) |
| 84 | A biallelic mutation links<i>MYORG</i>to autosomal-recessive primary familial brain calcification | 8.5 | 20 | Citations (PDF) |
| 85 | Biallelic mutations in <i>PIGP</i> cause developmental and epileptic encephalopathy | 3.8 | 8 | Citations (PDF) |
| 86 | A catalog of genetic loci associated with kidney function from analyses of a million individuals | 25.9 | 796 | Citations (PDF) |
| 87 | Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls | 39.5 | 303 | Citations (PDF) |
| 88 | Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease | 2.4 | 24 | Citations (PDF) |
| 89 | Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease | 3.2 | 74 | Citations (PDF) |
| 90 | Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing | 2.1 | 31 | Citations (PDF) |
| 91 | A multi-ancestry genome-wide study incorporating gene–smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure | 3.0 | 44 | Citations (PDF) |
| 92 | Multi-ancestry genome-wide gene–smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids | 25.9 | 133 | Citations (PDF) |
| 93 | Point mutations in the PDX1 transactivation domain impair human β-cell development and function | 6.0 | 78 | Citations (PDF) |
| 94 | Whole‐exome sequencing revealed a nonsense mutation in <i>STKLD1</i> causing non‐syndromic pre‐axial polydactyly type A affecting only upper limb | 2.1 | 10 | Citations (PDF) |
| 95 | Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection | 2.4 | 180 | Citations (PDF) |
| 96 | Hot-spot KIF5A mutations cause familial ALSBrain, 2018, 141, 688-697 | 8.5 | 220 | Citations (PDF) |
| 97 | Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes | 25.9 | 429 | Citations (PDF) |
| 98 | Comprehensive analysis of the mutation spectrum in 301 German ALS families | 7.3 | 107 | Citations (PDF) |
| 99 | Genome-wide analysis of PDX1 target genes in human pancreatic progenitors | 6.0 | 96 | Citations (PDF) |
| 100 | A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure | 6.6 | 156 | Citations (PDF) |
| 101 | Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency | 3.2 | 35 | Citations (PDF) |
| 102 | SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) | 4.4 | 61 | Citations (PDF) |
| 103 | Determinants of occurrence and survival after sudden cardiac arrest–A European perspective: The ESCAPE-NET project | 2.8 | 41 | Citations (PDF) |
| 104 | Genome-wide Analyses Identify KIF5A as a Novel ALS Gene | 12.4 | 660 | Citations (PDF) |
| 105 | Genetic Factors Explain a Major Fraction of the 50% Lower Lipoprotein(a) Concentrations in Finns | 6.4 | 42 | Citations (PDF) |
| 106 | Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy | 1.2 | 15 | Citations (PDF) |
| 107 | SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family | 3.8 | 37 | Citations (PDF) |
| 108 | A comprehensive evaluation of the genetic architecture of sudden cardiac arrest | 2.1 | 84 | Citations (PDF) |
| 109 | Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation | 3.5 | 11 | Citations (PDF) |
| 110 | Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps | 25.9 | 1,673 | Citations (PDF) |
| 111 | A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental Delay | 1.2 | 13 | Citations (PDF) |
| 112 | ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals | 3.4 | 33 | Citations (PDF) |
| 113 | Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders | 6.6 | 416 | Citations (PDF) |
| 114 | Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error | 25.9 | 324 | Citations (PDF) |
| 115 | Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval | 3.4 | 22 | Citations (PDF) |
| 116 | Interplay of cell–cell contacts and RhoA/
<scp>MRTF</scp>
‐A signaling regulates cardiomyocyte identity | 7.5 | 74 | Citations (PDF) |
| 117 | PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum | 1.2 | 11 | Citations (PDF) |
| 118 | Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? | 3.3 | 75 | Citations (PDF) |
| 119 | PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity | 13.9 | 85 | Citations (PDF) |
| 120 | MAP2 – A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34 | 2.4 | 13 | Citations (PDF) |
| 121 | Genome-Wide Association Study on Immunoglobulin G Glycosylation Patterns | 5.1 | 78 | Citations (PDF) |
| 122 | Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy | 6.6 | 60 | Citations (PDF) |
| 123 | Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility | 13.9 | 66 | Citations (PDF) |
| 124 | Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries | 2.4 | 114 | Citations (PDF) |
| 125 | Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa | 6.6 | 103 | Citations (PDF) |
| 126 | A homozygous splice variant in <i>AP4S1</i> mimicking neurodegeneration with brain iron accumulation | 4.7 | 16 | Citations (PDF) |
| 127 | Immune‐Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA–DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum | 7.6 | 56 | Citations (PDF) |
| 128 | Genome-wide association study in takotsubo syndrome — Preliminary results and future directions | 2.3 | 38 | Citations (PDF) |
| 129 | Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability | 6.6 | 155 | Citations (PDF) |
| 130 | Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease | 2.4 | 243 | Citations (PDF) |
| 131 | Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk | 25.9 | 514 | Citations (PDF) |
| 132 | Response to Comment on Adam et al. Metformin Effect on Nontargeted Metabolite Profiles in Patients With Type 2 Diabetes and in Multiple Murine Tissues. Diabetes 2016;65:3776–3785 | 0.5 | 1 | Citations (PDF) |
| 133 | Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb | 3.2 | 59 | Citations (PDF) |
| 134 | 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function | 3.5 | 108 | Citations (PDF) |
| 135 | A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms | 3.7 | 168 | Citations (PDF) |
| 136 | Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism | 4.2 | 45 | Citations (PDF) |
| 137 | An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans | 0.5 | 717 | Citations (PDF) |
| 138 | Genetic diagnosis of Mendelian disorders via RNA sequencing | 13.9 | 529 | Citations (PDF) |
| 139 | NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality | 0.4 | 27 | Citations (PDF) |
| 140 | A Low-Frequency Inactivating <i>AKT2</i> Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk | 0.5 | 51 | Citations (PDF) |
| 141 | Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly – A case report | 2.4 | 10 | Citations (PDF) |
| 142 | <i>CAD</i>mutations and uridine-responsive epileptic encephalopathyBrain, 2017, 140, 279-286 | 8.5 | 125 | Citations (PDF) |
| 143 | CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits | 13.9 | 85 | Citations (PDF) |
| 144 | Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies | 6.6 | 76 | Citations (PDF) |
| 145 | A genomic exploration identifies mechanisms that may explain adverse cardiovascular effects of COX-2 inhibitors | 3.5 | 20 | Citations (PDF) |
| 146 | Large meta-analysis of genome-wide association studies identifies five loci for lean body mass | 13.9 | 168 | Citations (PDF) |
| 147 | Fifteen Genetic Loci Associated With the Electrocardiographic P Wave | 3.8 | 50 | Citations (PDF) |
| 148 | Transcriptome-Wide Analysis Identifies Novel Associations With Blood Pressure | 7.0 | 48 | Citations (PDF) |
| 149 | Network inference from glycoproteomics data reveals new reactions in the IgG glycosylation pathway | 13.9 | 79 | Citations (PDF) |
| 150 | Investigating the causal effect of smoking on hay fever and asthma: a Mendelian randomization meta-analysis in the CARTA consortium | 3.5 | 45 | Citations (PDF) |
| 151 | Genome-wide methylation data mirror ancestry information | 3.3 | 150 | Citations (PDF) |
| 152 | Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3 | 2.4 | 40 | Citations (PDF) |
| 153 | A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations — A tool for the diagnosis of uromodulin-associated kidney disease | 1.9 | 16 | Citations (PDF) |
| 154 | Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes | 1.0 | 19 | Citations (PDF) |
| 155 | Sequence data and association statistics from 12,940 type 2 diabetes cases and controls | 5.8 | 36 | Citations (PDF) |
| 156 | Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles | 1.9 | 17 | Citations (PDF) |
| 157 | Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies | 4.7 | 41 | Citations (PDF) |
| 158 | Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis | 8.1 | 400 | Citations (PDF) |
| 159 | Genomic correlates of glatiramer acetate adverse cardiovascular effects lead to a novel locus mediating coronary risk | 2.4 | 5 | Citations (PDF) |
| 160 | Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas | 1.7 | 27 | Citations (PDF) |
| 161 | The genetic architecture of type 2 diabetes | 39.5 | 1,051 | Citations (PDF) |
| 162 | Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 | 3.9 | 176 | Citations (PDF) |
| 163 | Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement | 6.6 | 115 | Citations (PDF) |
| 164 | Coding Variation in<i>ANGPTL4,</i><i>LPL,</i>and<i>SVEP1</i>and the Risk of Coronary Disease | 44.0 | 481 | Citations (PDF) |
| 165 | Severe respiratory complex III defect prevents liver adaptation to prolonged fasting | 3.6 | 28 | Citations (PDF) |
| 166 | Genetic variants in RBFOX3 are associated with sleep latency | 3.2 | 33 | Citations (PDF) |
| 167 | Generation of a human induced pluripotent stem cell (iPSC) line from a patient carrying a P33T mutation in the PDX1 gene | 0.6 | 15 | Citations (PDF) |
| 168 | Generation of a human induced pluripotent stem cell (iPSC) line from a patient with family history of diabetes carrying a C18R mutation in the PDX1 gene | 0.6 | 13 | Citations (PDF) |
| 169 | Characterization of circular RNAs in human, mouse and rat hearts | 3.8 | 304 | Citations (PDF) |
| 170 | The many faces of paediatric mitochondrial disease on neuroimaging | 1.0 | 23 | Citations (PDF) |
| 171 | Genetic Modifiers for the Long-QT Syndrome | 3.8 | 22 | Citations (PDF) |
| 172 | 52 Genetic Loci Influencing Myocardial Mass | 2.4 | 132 | Citations (PDF) |
| 173 | Metformin Effect on Nontargeted Metabolite Profiles in Patients With Type 2 Diabetes and in Multiple Murine Tissues | 0.5 | 59 | Citations (PDF) |
| 174 | Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy | 6.6 | 89 | Citations (PDF) |
| 175 | Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error | 13.9 | 128 | Citations (PDF) |
| 176 | Gene-gene Interaction Analyses for Atrial Fibrillation | 3.5 | 16 | Citations (PDF) |
| 177 | A genome-wide association meta-analysis on apolipoprotein A-IV concentrations | 3.0 | 48 | Citations (PDF) |
| 178 | Genetic variants linked to education predict longevity | 7.8 | 125 | Citations (PDF) |
| 179 | Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation | 11.2 | 160 | Citations (PDF) |
| 180 | Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency | 6.6 | 141 | Citations (PDF) |
| 181 | Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine | 25.9 | 632 | Citations (PDF) |
| 182 | Gene-based pleiotropy across migraine with aura and migraine without aura patient groups | 4.3 | 63 | Citations (PDF) |
| 183 | Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts | 3.2 | 104 | Citations (PDF) |
| 184 | <i>NEK1</i>mutations in familial amyotrophic lateral sclerosisBrain, 2016, 139, e28-e28 | 8.5 | 129 | Citations (PDF) |
| 185 | Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegenerationBrain, 2016, 139, 346-354 | 8.5 | 99 | Citations (PDF) |
| 186 | Screening for<i>CHCHD10</i>mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant: Table 1 | 8.5 | 20 | Citations (PDF) |
| 187 | Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups | 12.4 | 157 | Citations (PDF) |
| 188 | Effect of Insulin Resistance on Monounsaturated Fatty Acid Levels: A Multi-cohort Non-targeted Metabolomics and Mendelian Randomization Study | 3.3 | 24 | Citations (PDF) |
| 189 | Extensive alterations of the whole-blood transcriptome are associated with body mass index: results of an mRNA profiling study involving two large population-based cohorts | 1.8 | 45 | Citations (PDF) |
| 190 | Deficiency of <scp>ECHS</scp>1 causes mitochondrial encephalopathy with cardiac involvement | 3.8 | 112 | Citations (PDF) |
| 191 | Recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome | 4.2 | 4 | Citations (PDF) |
| 192 | Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency | 2.4 | 91 | Citations (PDF) |
| 193 | Mitochondrial GWA Analysis of Lipid Profile Identifies Genetic Variants to Be Associated with HDL Cholesterol and Triglyceride Levels | 2.4 | 16 | Citations (PDF) |
| 194 | Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies | 4.3 | 35 | Citations (PDF) |
| 195 | Frequency and Clinical Correlates of Somatic Ying Yang 1 Mutations in Sporadic Insulinomas | 4.2 | 46 | Citations (PDF) |
| 196 | Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2 | 3.8 | 58 | Citations (PDF) |
| 197 | Mitochondriopathien – neue Trends in Diagnostik und Therapie | 0.2 | 1 | Citations (PDF) |
| 198 | Genome-wide association study of survival from sepsis due to pneumonia: an observational cohort study | 24.1 | 189 | Citations (PDF) |
| 199 | Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder | 4.8 | 17 | Citations (PDF) |
| 200 | Rare variants in β-Amyloid precursor protein (APP) and Parkinson’s disease | 3.2 | 57 | Citations (PDF) |
| 201 | CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder | 6.6 | 135 | Citations (PDF) |
| 202 | CRIM1 haploinsufficiency causes defects in eye development in human and mouse | 3.0 | 28 | Citations (PDF) |
| 203 | A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD) | 3.7 | 37 | Citations (PDF) |
| 204 | Cell Specific eQTL Analysis without Sorting Cells | 3.3 | 129 | Citations (PDF) |
| 205 | Associations between calcium and vitamin D supplement use as well as their serum concentrations and subclinical cardiovascular disease phenotypes | 1.6 | 20 | Citations (PDF) |
| 206 | A Meta-analysis of Gene Expression Signatures of Blood Pressure and Hypertension | 3.3 | 125 | Citations (PDF) |
| 207 | Spectrum of combined respiratory chain defects | 3.2 | 114 | Citations (PDF) |
| 208 | Prevalence of refractive error in Europe: the European Eye Epidemiology (E3) Consortium | 6.2 | 381 | Citations (PDF) |
| 209 | A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumors | 3.1 | 37 | Citations (PDF) |
| 210 | Effect of predicted protein-truncating genetic variants on the human transcriptome | 37.0 | 300 | Citations (PDF) |
| 211 | Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia | 17.3 | 747 | Citations (PDF) |
| 212 | Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation | 25.9 | 335 | Citations (PDF) |
| 213 | Effects of Metformin on Metabolite Profiles and LDL Cholesterol in Patients With Type 2 Diabetes | 10.1 | 118 | Citations (PDF) |
| 214 | A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease | 25.9 | 2,461 | Citations (PDF) |
| 215 | Genetic Variants Associated With Atrial Fibrillation and PR Interval Following Cardiac Surgery | 1.4 | 12 | Citations (PDF) |
| 216 | Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction | 3.2 | 80 | Citations (PDF) |
| 217 | RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome | 9.0 | 86 | Citations (PDF) |
| 218 | Mapping the Genetic Architecture of Gene Regulation in Whole Blood | 2.4 | 32 | Citations (PDF) |
| 219 | A Systematic Evaluation of Short Tandem Repeats in Lipid Candidate Genes: Riding on the SNP-Wave | 2.4 | 7 | Citations (PDF) |
| 220 | Mitochondrial Genetic Variants Identified to Be Associated with BMI in Adults | 2.4 | 44 | Citations (PDF) |
| 221 | Genome-Wide Meta-Analysis of Myopia and Hyperopia Provides Evidence for Replication of 11 Loci | 2.4 | 41 | Citations (PDF) |
| 222 | MTO1-Deficient Mouse Model Mirrors the Human Phenotype Showing Complex I Defect and Cardiomyopathy | 2.4 | 25 | Citations (PDF) |
| 223 | A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy | 2.1 | 164 | Citations (PDF) |
| 224 | A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping array | 3.3 | 277 | Citations (PDF) |
| 225 | Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable diseaseBrain, 2014, 137, e295-e295 | 8.5 | 40 | Citations (PDF) |
| 226 | Restless Legs Syndrome-associated intronic common variant in <i>Meis1</i> alters enhancer function in the developing telencephalon | 4.6 | 115 | Citations (PDF) |
| 227 | DYT16 revisited: Exome sequencing identifies<i>PRKRA</i>mutations in a European dystonia family | 4.7 | 51 | Citations (PDF) |
| 228 | Rare variants in
<i>PPARG</i>
with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes | 7.8 | 167 | Citations (PDF) |
| 229 | Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol | 6.6 | 205 | Citations (PDF) |
| 230 | <i>VARS2</i>and<i>TARS2</i>Mutations in Patients with Mitochondrial Encephalomyopathies | 3.9 | 95 | Citations (PDF) |
| 231 | Leveraging Cross-Species Transcription Factor Binding Site Patterns: From Diabetes Risk Loci to Disease Mechanisms | 34.4 | 122 | Citations (PDF) |
| 232 | Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening | 1.4 | 68 | Citations (PDF) |
| 233 | Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis | 13.9 | 244 | Citations (PDF) |
| 234 | Inactivating Mutations in <i>NPC1L1</i> and Protection from Coronary Heart Disease | 44.0 | 405 | Citations (PDF) |
| 235 | Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron diseaseBrain, 2014, 137, e309-e309 | 8.5 | 111 | Citations (PDF) |
| 236 | Targeted Resequencing and Systematic In Vivo Functional Testing Identifies Rare Variants in MEIS1 as Significant Contributors to Restless Legs Syndrome | 6.6 | 57 | Citations (PDF) |
| 237 | Effects of Long-Term Averaging of Quantitative Blood Pressure Traits on the Detection of Genetic Associations | 6.6 | 80 | Citations (PDF) |
| 238 | Defining the role of common variation in the genomic and biological architecture of adult human height | 25.9 | 1,965 | Citations (PDF) |
| 239 | Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization | 25.9 | 320 | Citations (PDF) |
| 240 | Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome | 44.0 | 404 | Citations (PDF) |
| 241 | Novel Calmodulin Mutations Associated With Congenital Arrhythmia Susceptibility | 3.8 | 181 | Citations (PDF) |
| 242 | Genome-Wide Genotyping Demonstrates a Polygenic Risk Score Associated With White Matter Hyperintensity Volume in CADASIL | 6.0 | 42 | Citations (PDF) |
| 243 | Novel (ovario) leukodystrophy related to
<i>AARS2</i>
mutations | 1.2 | 201 | Citations (PDF) |
| 244 | Loss-of-Function Mutations in<i>APOC3,</i>Triglycerides, and Coronary Disease | 44.0 | 1,054 | Citations (PDF) |
| 245 | Simulation of Finnish Population History, Guided by Empirical Genetic Data, to Assess Power of Rare-Variant Tests in Finland | 6.6 | 26 | Citations (PDF) |
| 246 | Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium | 3.1 | 34 | Citations (PDF) |
| 247 | Mutations in the deubiquitinase gene USP8 cause Cushing's disease | 25.9 | 541 | Citations (PDF) |
| 248 | Impairment of Drosophila Orthologs of the Human Orphan Protein C19orf12 Induces Bang Sensitivity and Neurodegeneration | 2.4 | 38 | Citations (PDF) |
| 249 | Blood cis-eQTL Analysis Fails to Identify Novel Association Signals among Sub-Threshold Candidates from Genome-Wide Association Studies in Restless Legs Syndrome | 2.4 | 2 | Citations (PDF) |
| 250 | Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage | 3.3 | 66 | Citations (PDF) |
| 251 | Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy | 6.6 | 165 | Citations (PDF) |
| 252 | ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy | 6.6 | 148 | Citations (PDF) |
| 253 | 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 | 3.0 | 61 | Citations (PDF) |
| 254 | Transcriptome and genome sequencing uncovers functional variation in humans | 39.5 | 2,054 | Citations (PDF) |
| 255 | Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants | 25.3 | 379 | Citations (PDF) |
| 256 | Homozygous missense mutation in <i>BOLA3</i> causes multiple mitochondrial dysfunctions syndrome in two siblings | 3.2 | 86 | Citations (PDF) |
| 257 | Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error | 6.6 | 154 | Citations (PDF) |
| 258 | Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4 | 6.6 | 65 | Citations (PDF) |
| 259 | Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulationBrain, 2013, 136, 1708-1717 | 8.5 | 237 | Citations (PDF) |
| 260 | Meta-Analysis of Genome-Wide Association Studies Identifies Six New Loci for Serum Calcium Concentrations | 3.3 | 174 | Citations (PDF) |
| 261 | Rare variants in LRRK1 and Parkinson's disease | 1.0 | 39 | Citations (PDF) |
| 262 | Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders | 2.4 | 55 | Citations (PDF) |
| 263 | Genome-Wide Association Study Identifies Novel Loci Associated with Circulating Phospho- and Sphingolipid Concentrations | 3.3 | 199 | Citations (PDF) |
| 264 | Novel Loci for Adiponectin Levels and Their Influence on Type 2 Diabetes and Metabolic Traits: A Multi-Ethnic Meta-Analysis of 45,891 Individuals | 3.3 | 453 | Citations (PDF) |
| 265 | A Large Candidate Gene Survey Identifies the
<i>KCNE1</i>
D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes | 3.8 | 160 | Citations (PDF) |
| 266 | Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including<i>NDUFB9</i> | 3.8 | 89 | Citations (PDF) |
| 267 | Pantothenate Kinase-Associated Neurodegeneration | 1.9 | 20 | Citations (PDF) |
| 268 | Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study | 52.0 | 990 | Citations (PDF) |
| 269 | Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium | 3.1 | 68 | Citations (PDF) |
| 270 | Impaired riboflavin transport due to missense mutations in <i>SLC52A2</i> causes Brown‐Vialetto‐Van Laere syndrome | 3.2 | 84 | Citations (PDF) |
| 271 | Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing | 3.8 | 197 | Citations (PDF) |
| 272 | Cryptic del/dup aberration of 60.6 Mb at 5q15-5q23.3 predicting adult-onset leukodystrophy | 1.6 | 0 | Citations (PDF) |
| 273 | DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria | 6.6 | 106 | Citations (PDF) |
| 274 | Exomdiagnostik verändert die Sicht auf Mitochondriopathien | 0.2 | 0 | Citations (PDF) |
| 275 | A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern | 2.7 | 59 | Citations (PDF) |
| 276 | A Genome-Wide Association Search for Type 2 Diabetes Genes in African Americans | 2.4 | 204 | Citations (PDF) |
| 277 | Analyzing Illumina Gene Expression Microarray Data from Different Tissues: Methodological Aspects of Data Analysis in the MetaXpress Consortium | 2.4 | 74 | Citations (PDF) |
| 278 | <scp>PSEA</scp>: Phenotype Set Enrichment Analysis—A New Method for Analysis of Multiple Phenotypes | 3.2 | 25 | Citations (PDF) |
| 279 | Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids | 6.6 | 246 | Citations (PDF) |
| 280 | Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood | 3.2 | 44 | Citations (PDF) |
| 281 | Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity | 3.2 | 68 | Citations (PDF) |
| 282 | Dilution of candidates: the case of iron-related genes in restless legs syndrome | 3.2 | 33 | Citations (PDF) |
| 283 | Extensive Natural Variation for Cellular Hydrogen Peroxide Release Is Genetically Controlled | 2.4 | 5 | Citations (PDF) |
| 284 | Lack of replication in polymorphisms reported to be associated with atrial fibrillation | 2.7 | 22 | Citations (PDF) |
| 285 | Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing | 10.1 | 55 | Citations (PDF) |
| 286 | 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome | 1.6 | 19 | Citations (PDF) |
| 287 | Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency | 1.4 | 24 | Citations (PDF) |
| 288 | Human metabolic individuality in biomedical and pharmaceutical research | 39.5 | 984 | Citations (PDF) |
| 289 | Recent Advances in the Genetics of Atrial Fibrillation: From Rare and Common Genetic Variants to microRNA Signaling | 1.1 | 4 | Citations (PDF) |
| 290 | A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals | 4.9 | 195 | Citations (PDF) |
| 291 | Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23 | 2.1 | 134 | Citations (PDF) |
| 292 | Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation | 6.6 | 254 | Citations (PDF) |
| 293 | Expression analysis of dopaminergic neurons in Parkinson’s disease and aging links transcriptional dysregulation of energy metabolism to cell death | 9.2 | 142 | Citations (PDF) |
| 294 | Sampling GWAS subjects from risk populations | 3.2 | 2 | Citations (PDF) |
| 295 | Variants in STAT5B Associate with Serum TC and LDL-C Levels | 4.2 | 7 | Citations (PDF) |
| 296 | Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels | 3.0 | 65 | Citations (PDF) |
| 297 | MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease | 3.8 | 62 | Citations (PDF) |
| 298 | Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study | 3.0 | 169 | Citations (PDF) |
| 299 | Genome-wide association studies of atrial fibrillation: past, present, and future | 5.5 | 71 | Citations (PDF) |
| 300 | Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy | 2.1 | 107 | Citations (PDF) |
| 301 | A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier | 3.3 | 69 | Citations (PDF) |
| 302 | Discovery of Sexual Dimorphisms in Metabolic and Genetic Biomarkers | 3.3 | 364 | Citations (PDF) |
| 303 | Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1 | 3.3 | 176 | Citations (PDF) |
| 304 | Genetic Determinants of Serum Testosterone Concentrations in Men | 3.3 | 204 | Citations (PDF) |
| 305 | A KATP channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila | 8.5 | 144 | Citations (PDF) |
| 306 | Low‐risk variants <i>FGFR2</i>, <i>TNRC9</i> and <i>LSP1</i> in German familial breast cancer patients | 4.5 | 27 | Citations (PDF) |
| 307 | Risk gene variants for nicotine dependence in the <i>CHRNA5</i>–<i>CHRNA3</i>–<i>CHRNB4</i> cluster are associated with cognitive performance | 1.6 | 61 | Citations (PDF) |
| 308 | Reply | 6.3 | 15 | Citations (PDF) |
| 309 | A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2with serum creatinine level | 2.0 | 53 | Citations (PDF) |
| 310 | How to link call rate and <i>p</i>‐values for Hardy–Weinberg equilibrium as measures of genome‐wide SNP data quality | 1.7 | 11 | Citations (PDF) |
| 311 | Biological, clinical and population relevance of 95 loci for blood lipids | 39.5 | 3,429 | Citations (PDF) |
| 312 | Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis | 25.9 | 1,700 | Citations (PDF) |
| 313 | Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution | 25.9 | 899 | Citations (PDF) |
| 314 | Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index | 25.9 | 2,774 | Citations (PDF) |
| 315 | Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction | 25.9 | 336 | Citations (PDF) |
| 316 | Common Variants at 10 Genomic Loci Influence Hemoglobin A1C Levels via Glycemic and Nonglycemic Pathways | 0.5 | 421 | Citations (PDF) |
| 317 | Common Genetic Variants Associate with Serum Phosphorus Concentration | 0.4 | 153 | Citations (PDF) |
| 318 | Modeling of Environmental Effects in Genome-Wide Association Studies Identifies SLC2A2 and HP as Novel Loci Influencing Serum Cholesterol Levels | 3.3 | 55 | Citations (PDF) |
| 319 | Genetic Association Study Identifies HSPB7 as a Risk Gene for Idiopathic Dilated Cardiomyopathy | 3.3 | 118 | Citations (PDF) |
| 320 | Genome-Wide Association Studies of Serum Magnesium, Potassium, and Sodium Concentrations Identify Six Loci Influencing Serum Magnesium Levels | 3.3 | 222 | Citations (PDF) |
| 321 | CLOCK Gene Variants Associate with Sleep Duration in Two Independent Populations | 5.6 | 141 | Citations (PDF) |
| 322 | Genetic Regulation of Serum Phytosterol Levels and Risk of Coronary Artery Disease | 3.8 | 148 | Citations (PDF) |
| 323 | Genome-wide association analysis identifies multiple loci related to resting heart rate | 3.0 | 142 | Citations (PDF) |
| 324 | Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance | 34.4 | 582 | Citations (PDF) |
| 325 | Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease | 1.6 | 147 | Citations (PDF) |
| 326 | Identification of Recurring Tumor-Specific Somatic Mutations In Acute Myeloid Leukemia by Transcriptome Sequencing.Blood, 2010, 116, 1059-1059 | 4.2 | 0 | Citations (PDF) |
| 327 | Large scale replication and meta-analysis of variants on chromosome 4q25 associated with atrial fibrillation | 2.1 | 202 | Citations (PDF) |
| 328 | Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution | 3.3 | 466 | Citations (PDF) |
| 329 | Genetic Structure of Europeans: A View from the North–East | 2.4 | 297 | Citations (PDF) |
| 330 | Targeting 160 Candidate Genes for Blood Pressure Regulation with a Genome-Wide Genotyping Array | 2.4 | 103 | Citations (PDF) |
| 331 | Replication of restless legs syndrome loci in three European populations | 3.8 | 81 | Citations (PDF) |
| 332 | Do common genetic variants in endotoxin signaling pathway contribute to predisposition to alcoholic liver cirrhosis? | 2.4 | 10 | Citations (PDF) |
| 333 | Genetic Variants Associated With Cardiac Structure and Function | 17.2 | 210 | Citations (PDF) |
| 334 | Meta-Analysis of 28,141 Individuals Identifies Common Variants within Five New Loci That Influence Uric Acid Concentrations | 3.3 | 606 | Citations (PDF) |
| 335 | Genetic Determinants of Circulating Sphingolipid Concentrations in European Populations | 3.3 | 204 | Citations (PDF) |
| 336 | Variation in the 4q25 Chromosomal Locus Predicts Atrial Fibrillation After Coronary Artery Bypass Graft Surgery | 3.8 | 111 | Citations (PDF) |
| 337 | Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis | 3.0 | 90 | Citations (PDF) |
| 338 | Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations | 3.0 | 174 | Citations (PDF) |
| 339 | A Genome-Wide Association Scan of RR and QT Interval Duration in 3 European Genetically Isolated Populations | 3.8 | 67 | Citations (PDF) |
| 340 | Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import | 0.9 | 32 | Citations (PDF) |
| 341 | Microdeletion syndrome 16p11.2‐p12.2: Clinical and molecular characterization | 1.5 | 48 | Citations (PDF) |
| 342 | Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke | 6.3 | 209 | Citations (PDF) |
| 343 | Single‐cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene | 6.3 | 55 | Citations (PDF) |
| 344 | Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene | 3.9 | 39 | Citations (PDF) |
| 345 | New susceptibility locus for coronary artery disease on chromosome 3q22.3 | 25.9 | 447 | Citations (PDF) |
| 346 | Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease | 25.9 | 444 | Citations (PDF) |
| 347 | Genome-wide association study identifies eight loci associated with blood pressure | 25.9 | 1,142 | Citations (PDF) |
| 348 | Common variants at ten loci modulate the QT interval duration in the QTSCD Study | 25.9 | 375 | Citations (PDF) |
| 349 | Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry | 25.9 | 374 | Citations (PDF) |
| 350 | Genome-wide linkage analysis of serum creatinine in three isolated European populations | 5.1 | 72 | Citations (PDF) |
| 351 | Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery | 12.7 | 90 | Citations (PDF) |
| 352 | Genetic Structure in Contemporary South Tyrolean Isolated Populations Revealed by Analysis of Y-Chromosome, mtDNA, and Alu Polymorphisms | 0.1 | 5 | Citations (PDF) |
| 353 | Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease | 1.0 | 2 | Citations (PDF) |
| 354 | Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate | 25.9 | 410 | Citations (PDF) |
| 355 | Natriuretic Peptide System Gene Variants Are Associated with Ventricular Dysfunction after Coronary Artery Bypass Grafting | 2.3 | 44 | Citations (PDF) |
| 356 | Does B-type Natriuretic Peptide or Its Gene Polymorphism Predict Patient Outcome after Coronary Artery Bypass Graft Surgery? | 2.3 | 0 | Citations (PDF) |
| 357 | MitoP2: An Integrative Tool for the Analysis of the Mitochondrial Proteome | 2.1 | 70 | Citations (PDF) |
| 358 | Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13 | 1.0 | 62 | Citations (PDF) |
| 359 | Lack of association of genetic variants in genes of the endocannabinoid system with anorexia nervosa | 3.8 | 42 | Citations (PDF) |
| 360 | Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome | 4.7 | 106 | Citations (PDF) |
| 361 | Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans | 3.2 | 43 | Citations (PDF) |
| 362 | PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome | 25.9 | 264 | Citations (PDF) |
| 363 | A functional polymorphism in the <i>SCN1A</i> gene is not associated with carbamazepine dosages in Austrian patients with epilepsy | 4.6 | 51 | Citations (PDF) |
| 364 | A novel deletion in progranulin gene is associated with FTDP-17 and CBS | 3.5 | 115 | Citations (PDF) |
| 365 | Genome-Wide Association Analysis of High-Density Lipoprotein Cholesterol in the Population-Based KORA Study Sheds New Light on Intergenic Regions | 3.8 | 91 | Citations (PDF) |
| 366 | A multimetric approach to analysis of genome-wide association by single markers and composite likelihood | 7.8 | 6 | Citations (PDF) |
| 367 | Genome-Wide Scan on Total Serum IgE Levels Identifies FCER1A as Novel Susceptibility Locus | 3.3 | 263 | Citations (PDF) |
| 368 | Lack of Association Between the
<i>MEF2A</i>
Gene and Myocardial Infarction | 25.3 | 44 | Citations (PDF) |
| 369 | The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG) | 2.1 | 109 | Citations (PDF) |
| 370 | Genetic Variation in Members of the Leukotriene Biosynthesis Pathway Confer an Increased Risk of Ischemic Stroke | 6.0 | 56 | Citations (PDF) |
| 371 | Lifelong Reduction of LDL-Cholesterol Related to a Common Variant in the LDL-Receptor Gene Decreases the Risk of Coronary Artery Disease—A Mendelian Randomisation Study | 2.4 | 151 | Citations (PDF) |
| 372 | STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families | 3.2 | 16 | Citations (PDF) |
| 373 | Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts | 25.9 | 793 | Citations (PDF) |
| 374 | Six new loci associated with body mass index highlight a neuronal influence on body weight regulation | 25.9 | 1,628 | Citations (PDF) |
| 375 | Genetics Meets Metabolomics: A Genome-Wide Association Study of Metabolite Profiles in Human Serum | 3.3 | 723 | Citations (PDF) |
| 376 | A Population-Based Epidemiological and Genetic Study of X-Linked Retinitis Pigmentosa 2007, 48, 4012 | | 40 | Citations (PDF) |
| 377 | The Association of a SNP Upstream of INSIG2 with Body Mass Index is Reproduced in Several but Not All Cohorts | 3.3 | 135 | Citations (PDF) |
| 378 | Genomewide Association Analysis of Coronary Artery Disease | 44.0 | 1,940 | Citations (PDF) |
| 379 | The common non-synonymous variant G38S of the KCNE1-(minK)-gene is not associated to QT interval in Central European Caucasians: results from the KORA study | 2.1 | 27 | Citations (PDF) |
| 380 | Association of variants in the BAT1-NFKBIL1-LTA genomic region with protection against myocardial infarction in Europeans | 3.0 | 23 | Citations (PDF) |
| 381 | Identification of Novel Mutations in Patients with Leber Congenital Amaurosis and Juvenile RP by Genome-wide Homozygosity Mapping with SNP Microarrays 2007, 48, 5690 | | 92 | Citations (PDF) |
| 382 | No evidence for an involvement of variants in the cannabinoid receptor gene (CNR1) in obesity in German children and adolescents | 1.4 | 42 | Citations (PDF) |
| 383 | Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation | 6.6 | 120 | Citations (PDF) |
| 384 | Case-control genetic association study of fibulin-6 (FBLN6orHMCN1) variants in age-related macular degeneration (AMD) | 3.9 | 36 | Citations (PDF) |
| 385 | Family-based association study of the restless legs syndrome loci 2 and 3 in a European population | 4.7 | 31 | Citations (PDF) |
| 386 | A novelLRRK2 mutation in an Austrian cohort of patients with Parkinson's disease | 4.7 | 20 | Citations (PDF) |
| 387 | Mutation screen and association studies in the Diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13 | 2.9 | 25 | Citations (PDF) |
| 388 | The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives | 2.0 | 63 | Citations (PDF) |
| 389 | Lymphotoxin-α and galectin-2 SNPs are not associated with myocardial infarction in two different German populations | 3.8 | 25 | Citations (PDF) |
| 390 | Familial carpal tunnel syndrome: further evidence for a genetic contribution | 2.1 | 15 | Citations (PDF) |
| 391 | A Common Genetic Variant Is Associated with Adult and Childhood Obesity | 37.0 | 660 | Citations (PDF) |
| 392 | Gene Mapping and Marker Clustering Using Shannon's Mutual Information | 3.0 | 46 | Citations (PDF) |
| 393 | Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis | 6.6 | 659 | Citations (PDF) |
| 394 | Genetic Structure in Contemporary South Tyrolean Isolated Populations Revealed by Analysis of Y-Chromosome, mtDNA, and Alu Polymorphisms | 0.1 | 17 | Citations (PDF) |
| 395 | Proteome analysis of mitochondrial outer membrane fromNeurospora crassa | 3.2 | 78 | Citations (PDF) |
| 396 | A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization | 25.9 | 516 | Citations (PDF) |
| 397 | Evidence for further genetic locus heterogeneity and confirmation of RLS‐1 in restless legs syndrome | 4.7 | 81 | Citations (PDF) |
| 398 | Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate | 4.7 | 39 | Citations (PDF) |
| 399 | Genotypic and phenotypic spectrum of
PANK2
mutations in patients with neurodegeneration with brain iron accumulation | 6.3 | 194 | Citations (PDF) |
| 400 | The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity | 3.0 | 473 | Citations (PDF) |
| 401 | Prevalence, Spectrum, and Functional Characterization of Melanocortin-4 Receptor Gene Mutations in a Representative Population-Based Sample and Obese Adults from Germany | 4.2 | 189 | Citations (PDF) |
| 402 | The DNA sequence of the human X chromosome | 39.5 | 1,058 | Citations (PDF) |
| 403 | Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia | 3.4 | 12 | Citations (PDF) |
| 404 | Multiple regions of α-synuclein are associated with Parkinson's disease | 6.3 | 232 | Citations (PDF) |
| 405 | Common variants of LRRK2 are not associated with sporadic Parkinson's disease | 6.3 | 53 | Citations (PDF) |
| 406 | Common Variants in Myocardial Ion Channel Genes Modify the QT Interval in the General Population | 12.6 | 142 | Citations (PDF) |
| 407 | TaqMan assays for genotyping of single nucleotide polymorphisms present at a disease susceptibility locus on chromosome 6 | 2.4 | 5 | Citations (PDF) |
| 408 | The Eye-of-the-Tiger Sign is not a Reliable Disease Marker for Hallervorden-Spatz Syndrome | 1.2 | 71 | Citations (PDF) |
| 409 | Clinical Picture, Evolution and Peculiar Molecular Findings in a Very Large Pedigree with Wolfram Syndrome | 0.9 | 14 | Citations (PDF) |
| 410 | <i>ALOX5AP</i>
Gene and the
<i>PDE4D</i>
Gene in a Central European Population of Stroke Patients | 6.0 | 176 | Citations (PDF) |
| 411 | Linkage Disequilibrium Patterns and tagSNP Transferability among European Populations | 6.6 | 117 | Citations (PDF) |
| 412 | Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk | 3.0 | 756 | Citations (PDF) |
| 413 | Electroretinography as a Screening Method for Mutations Causing Retinal Dysfunction in Mice 2004, 45, 601 | | 52 | Citations (PDF) |
| 414 | Ghrelin Receptor Gene: Identification of Several Sequence Variants in Extremely Obese Children and Adolescents, Healthy Normal-Weight and Underweight Students, and Children with Short Normal Stature | 4.2 | 134 | Citations (PDF) |
| 415 | Integrative Analysis of the Mitochondrial Proteome in Yeast | 4.9 | 184 | Citations (PDF) |
| 416 | A Gene Locus Responsible for the Familial Hair Shaft Abnormality Pili Annulati Maps to Chromosome 12q24.32–24.33 | 2.4 | 18 | Citations (PDF) |
| 417 | Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology | 12.4 | 2,887 | Citations (PDF) |
| 418 | Mechanisms for multiple intracellular localization of human mitochondrial proteins | 4.1 | 42 | Citations (PDF) |
| 419 | Sequence diversity ofKIAA0027/MLC1:are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? | 3.9 | 23 | Citations (PDF) |
| 420 | Improved proteome analysis of Saccharomyces cerevisiae mitochondria by free-flow electrophoresis | 3.2 | 150 | Citations (PDF) |
| 421 | The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted | 3.2 | 160 | Citations (PDF) |
| 422 | Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly | 3.9 | 18 | Citations (PDF) |
| 423 | An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria | 3.0 | 121 | Citations (PDF) |
| 424 | X-linked Retinitis Pigmentosa:RPGRMutations in Most Families with Definite X Linkage and Clustering of Mutations in a Short Sequence Stretch of Exon ORF15 2003, 44, 1458 | | 110 | Citations (PDF) |
| 425 | Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts | 2.7 | 1 | Citations (PDF) |
| 426 | Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p | 3.8 | 45 | Citations (PDF) |
| 427 | Title is missing! 2002 | | 3 | Citations (PDF) |
| 428 | Presence of a Major WFS1 Mutation in Spanish Wolfram Syndrome Pedigrees | 1.4 | 68 | Citations (PDF) |
| 429 | X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. 2001, 239, 167-172 | | 14 | Citations (PDF) |
| 430 | Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America | 3.1 | 33 | Citations (PDF) |
| 431 | LEOPARD-Syndrom mit Iris-Netzhaut-Aderhaut-Kolobom | 0.3 | 11 | Citations (PDF) |
| 432 | The Autosomal Dominant Hypophosphatemic Rickets (ADHR) Gene Is a Secreted Polypeptide Overexpressed by Tumors that Cause Phosphate Wasting | 4.2 | 297 | Citations (PDF) |
| 433 | The Autosomal Dominant Hypophosphatemic Rickets (ADHR) Gene Is a Secreted Polypeptide Overexpressed by Tumors that Cause Phosphate Wasting | 4.2 | 114 | Citations (PDF) |
| 434 | Nonviral Glial Cell-Derived Neurotrophic Factor Gene Transfer Enhances Survival of Cultured Dopaminergic Neurons and Improves Their Function after Transplantation in a Rat Model of Parkinson’s Disease | 3.2 | 24 | Citations (PDF) |
| 435 | Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene | 2.4 | 76 | Citations (PDF) |
| 436 | Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3) | 6.6 | 63 | Citations (PDF) |
| 437 | MITOP: database for mitochondria-related proteins, genes and diseases | 15.8 | 27 | Citations (PDF) |
| 438 | The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase | 7.8 | 124 | Citations (PDF) |
| 439 | Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2) | 3.2 | 84 | Citations (PDF) |
| 440 | Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse | 3.2 | 15 | Citations (PDF) |
| 441 | A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated β-myosin heavy chain genes | 3.1 | 69 | Citations (PDF) |
| 442 | Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency | 6.6 | 535 | Citations (PDF) |
| 443 | Analysis of the human GDNF gene reveals an inducible promoter, three exons, a triplet repeat within the 3'-UTR and alternative splice products | 3.0 | 67 | Citations (PDF) |
| 444 | Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene | 3.0 | 60 | Citations (PDF) |
| 445 | Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein | 3.0 | 431 | Citations (PDF) |
| 446 | Pex Gene Deletions in Gy and Hyp Mice Provide Mouse Models for X-Linked Hypophosphatemia | 3.0 | 199 | Citations (PDF) |
| 447 | Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP) | 3.0 | 191 | Citations (PDF) |
| 448 | Genomic Organization of the Human <i>PEX</i> Gene Mutated in X-Linked Dominant Hypophosphatemic Rickets | 4.6 | 166 | Citations (PDF) |
| 449 | A familial deletion in the Prader-Willi syndrome region including the imprinting control region | 3.9 | 8 | Citations (PDF) |
| 450 | DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor | 3.1 | 58 | Citations (PDF) |
| 451 | A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets | 25.9 | 1,118 | Citations (PDF) |
| 452 | A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa | 3.0 | 57 | Citations (PDF) |
| 453 | Missense mutations in the NDP gene in patients with a less severe course of Norrie disease | 3.0 | 54 | Citations (PDF) |
| 454 | Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy. | 3.8 | 13 | Citations (PDF) |
| 455 | The Gene Coding for Glial Cell Line Derived Neurotrophic Factor (GDNF) Maps to Chromosome 5p12-p13.1 | 2.8 | 21 | Citations (PDF) |
| 456 | Three novel mutations (I506S, S466X, 1651A→T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of Southern German Descent | 3.9 | 8 | Citations (PDF) |
| 457 | Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency | 3.9 | 3 | Citations (PDF) |
| 458 | Growth hormone (GH), insulin-like growth factors (IGFs), and IGF-binding protein-3 (IGFBP-3) in a child with Proteus syndrome | 0.5 | 22 | Citations (PDF) |
| 459 | An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita | 39.5 | 813 | Citations (PDF) |
| 460 | The Mouse Pink-Eyed Dilution Gene: Association with Hypopigmentation in Prader-Willi and Angelman Syndromes and with Human OCA2 | 0.0 | 28 | Citations (PDF) |
| 461 | Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure | 25.9 | 169 | Citations (PDF) |
| 462 | Mutation analysis in the diagnosis of cystic fibrosis | 2.4 | 7 | Citations (PDF) |
| 463 | In frame deletion (ΔF311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene | 3.0 | 7 | Citations (PDF) |
| 464 | Intragenic Deletion of the<i>KALIG-1</i>Gene in Kallmann's Syndrome | 44.0 | 192 | Citations (PDF) |
| 465 | Mutations in the candidate gene for Norrie disease | 3.0 | 135 | Citations (PDF) |
| 466 | Brief Report | 0.6 | 14 | Citations (PDF) |
| 467 | Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome | 3.1 | 11 | Citations (PDF) |
| 468 | Isolation of a candidate gene for Norrie disease by positional cloning | 25.9 | 252 | Citations (PDF) |
| 469 | Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucins | 25.9 | 150 | Citations (PDF) |
| 470 | Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27? (DXS255) | 3.1 | 17 | Citations (PDF) |
| 471 | Mapping of Xp21 translocation breakpoints in and around the DMD gene by pulsed field gel electrophoresis | 2.8 | 23 | Citations (PDF) |
| 472 | A new family of interspersed repetitive DNA sequences in the mouse genome | 4.2 | 112 | Citations (PDF) |
| 473 | Exome Sequencing in Children | 0.1 | 27 | Citations (PDF) |
