| 1 | Common Genetic Variation and Age of Onset of Anorexia Nervosa | 2.7 | 30 | Citations (PDF) |
| 2 | Genome sequencing data analysis for rare disease gene discovery | 6.6 | 13 | Citations (PDF) |
| 3 | Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP | 2.9 | 6 | Citations (PDF) |
| 4 | Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients | 4.4 | 4 | Citations (PDF) |
| 5 | Shared genetic risk between eating disorder‐ and substance‐use‐related phenotypes: Evidence from genome‐wide association studies | 2.6 | 59 | Citations (PDF) |
| 6 | Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation | 3.1 | 12 | Citations (PDF) |
| 7 | Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs | 1.6 | 6 | Citations (PDF) |
| 8 | The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome | 4.0 | 7 | Citations (PDF) |
| 9 | Variability of multi-omics profiles in a population-based child cohort | 7.1 | 38 | Citations (PDF) |
| 10 | Actionable genomic variants in 6045 participants from the Qatar Genome Program | 4.5 | 30 | Citations (PDF) |
| 11 | In utero and childhood exposure to tobacco smoke and multi-layer molecular signatures in children | 7.1 | 35 | Citations (PDF) |
| 12 | Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa | 25.2 | 1,047 | Citations (PDF) |
| 13 | GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI | 10.9 | 143 | Citations (PDF) |
| 14 | Epigenetic Modification of the Pentose Phosphate Pathway and the Igf-Axis in Women with Gestational Diabetes Mellitus | 2.2 | 23 | Citations (PDF) |
| 15 | Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches | 5.4 | 64 | Citations (PDF) |
| 16 | Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors | 25.2 | 590 | Citations (PDF) |
| 17 | eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics | 4.5 | 25 | Citations (PDF) |
| 18 | Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis | 3.4 | 28 | Citations (PDF) |
| 19 | Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02 | 13.7 | 112 | Citations (PDF) |
| 20 | Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations | 2.3 | 18 | Citations (PDF) |
| 21 | Allele balance bias identifies systematic genotyping errors and false disease associations | 4.5 | 35 | Citations (PDF) |
| 22 | Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics | 2.9 | 192 | Citations (PDF) |
| 23 | Geolocalisation of athletes for out-of-competition drug testing: ethical considerations. Position statement by the WADA Ethics Panel | 10.5 | 8 | Citations (PDF) |
| 24 | miRTrace reveals the organismal origins of microRNA sequencing data | 8.1 | 87 | Citations (PDF) |
| 25 | Human Early Life Exposome (HELIX) study: a European population-based exposome cohort | 1.9 | 242 | Citations (PDF) |
| 26 | Circulating miRNAs, isomiRs and small RNA clusters in human plasma and breast milk | 2.3 | 67 | Citations (PDF) |
| 27 | Survey of 800+ data sets from human tissue and body fluid reveals xenomiRs are likely artifacts | 3.8 | 72 | Citations (PDF) |
| 28 | Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa | 8.8 | 534 | Citations (PDF) |
| 29 | Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications | 6.9 | 143 | Citations (PDF) |
| 30 | Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes | 3.4 | 27 | Citations (PDF) |
| 31 | The acute effects of ultraviolet radiation on the blood transcriptome are independent of plasma 25OHD3 | 7.7 | 16 | Citations (PDF) |
| 32 | Cribado ampliado de portadores en un programa de donación de ovocitos: Implementación de un nuevo test y resultados tras dos años de experiencia | 0.3 | 1 | Citations (PDF) |
| 33 | Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome | 2.3 | 92 | Citations (PDF) |
| 34 | Tying malaria and microRNAs: from the biology to future diagnostic perspectives | 2.6 | 23 | Citations (PDF) |
| 35 | Genome-wide DNA methylation study in human placenta identifies novel loci associated with maternal smoking during pregnancy | 4.9 | 94 | Citations (PDF) |
| 36 | A genome-wide association meta-analysis of diarrhoeal disease in young children identifies
FUT2
locus and provides plausible biological pathways | 2.9 | 42 | Citations (PDF) |
| 37 | Heritability and Genome-Wide Association Analyses of Sleep Duration in Children: The EAGLE ConsortiumSleep, 2016, 39, 1859-1869 | 0.9 | 42 | Citations (PDF) |
| 38 | Prenatal Exposure to Mixtures of Xenoestrogens and Genome-Wide DNA Methylation in Human Placenta | 2.2 | 15 | Citations (PDF) |
| 39 | Specific small-RNA signatures in the amygdala at premotor and motor stages of Parkinson’s disease revealed by deep sequencing analysis | 4.7 | 35 | Citations (PDF) |
| 40 | Targeting CAG repeat RNAs reduces Huntington’s disease phenotype independently of huntingtin levels | 10.6 | 68 | Citations (PDF) |
| 41 | Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility | 13.7 | 186 | Citations (PDF) |
| 42 | HLA-DRB1*11and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis | 7.5 | 171 | Citations (PDF) |
| 43 | Rare variants in β-Amyloid precursor protein (APP) and Parkinson’s disease | 3.0 | 58 | Citations (PDF) |
| 44 | Missense mutations inTENM4, a regulator of axon guidance and central myelination, cause essential tremor | 2.9 | 163 | Citations (PDF) |
| 45 | Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency | 2.3 | 18 | Citations (PDF) |
| 46 | Non-coding recurrent mutations in chronic lymphocytic leukaemia | 37.9 | 862 | Citations (PDF) |
| 47 | Effect of predicted protein-truncating genetic variants on the human transcriptome | 36.3 | 313 | Citations (PDF) |
| 48 | Switching to zebrafish neurobehavioral models: The obsessive–compulsive disorder paradigm | 4.3 | 16 | Citations (PDF) |
| 49 | Mutations in DCHS1 cause mitral valve prolapse | 37.9 | 195 | Citations (PDF) |
| 50 | Circulating Betatrophin Levels Are Increased in Anorexia and Decreased in Morbidly Obese Women | 4.0 | 46 | Citations (PDF) |
| 51 | A novel common variant in DCST2 is associated with length in early life and height in adulthood | 2.9 | 126 | Citations (PDF) |
| 52 | Smell–taste dysfunctions in extreme weight/eating conditions: analysis of hormonal and psychological interactions | 2.5 | 107 | Citations (PDF) |
| 53 | Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients | 3.7 | 35 | Citations (PDF) |
| 54 | Association of Irisin with Fat Mass, Resting Energy Expenditure, and Daily Activity in Conditions of Extreme Body Mass Index | 3.5 | 178 | Citations (PDF) |
| 55 | The Human Early-Life Exposome (HELIX): Project Rationale and Design | 8.3 | 351 | Citations (PDF) |
| 56 | Validation and Genotyping of Multiple Human Polymorphic Inversions Mediated by Inverted Repeats Reveals a High Degree of Recurrence | 3.2 | 28 | Citations (PDF) |
| 57 | Activating Mutations Cluster in the “Molecular Brake” Regions of Protein Kinases and Do Not Associate with Conserved or Catalytic Residues | 4.5 | 20 | Citations (PDF) |
| 58 | Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes | 5.1 | 24 | Citations (PDF) |
| 59 | Diagnosis of autosomal dominant polycystic kidney disease using efficient
PKD1
and
PKD2
targeted next‐generation sequencing | 1.6 | 75 | Citations (PDF) |
| 60 | Prenatal exposure to mixtures of xenoestrogens and repetitive element DNA methylation changes in human placenta | 10.2 | 57 | Citations (PDF) |
| 61 | Relationship between genome and epigenome - challenges and requirements for future research | 3.3 | 25 | Citations (PDF) |
| 62 | Evidence for the biogenesis of more than 1,000 novel human microRNAs | 8.1 | 243 | Citations (PDF) |
| 63 | A genome-wide association study of anorexia nervosa | 7.8 | 320 | Citations (PDF) |
| 64 | Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous systemPain, 2014, 155, 1102-1109 | 4.2 | 67 | Citations (PDF) |
| 65 | ALDH5A1 variability in opioid dependent patients could influence response to methadone treatment | 1.0 | 10 | Citations (PDF) |
| 66 | Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity | 3.0 | 82 | Citations (PDF) |
| 67 | MicroRNA expression profiling in blood from fragile X‐associated tremor/ataxia syndrome patients | 2.3 | 26 | Citations (PDF) |
| 68 | Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders | 3.3 | 9 | Citations (PDF) |
| 69 | A highly expressed miR-101 isomiR is a functional silencing small RNA | 3.3 | 98 | Citations (PDF) |
| 70 | A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein | 2.8 | 32 | Citations (PDF) |
| 71 | Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories | 29.8 | 272 | Citations (PDF) |
| 72 | Storage Conditions and Stability of Global DNA Methylation in Placental Tissue | 2.2 | 38 | Citations (PDF) |
| 73 | Transcriptome and genome sequencing uncovers functional variation in humans | 37.9 | 2,092 | Citations (PDF) |
| 74 | The interaction between Comt and Bdnf variants influences obsessive–compulsive-related dysfunctional beliefs | 3.4 | 19 | Citations (PDF) |
| 75 | Screening for the presence of FMR1 premutation alleles in women with fibromyalgia | 2.3 | 15 | Citations (PDF) |
| 76 | VAL66MET BDNF GENOTYPES IN MELANCHOLIC DEPRESSION: EFFECTS ON BRAIN STRUCTURE AND TREATMENT OUTCOME | 4.0 | 44 | Citations (PDF) |
| 77 | Upregulation of a small vault RNA (svtRNA2-1a) is an early event in Parkinson disease and induces neuronal dysfunction | 3.3 | 56 | Citations (PDF) |
| 78 | Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR | 3.8 | 39 | Citations (PDF) |
| 79 | Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis | 7.7 | 33 | Citations (PDF) |
| 80 | The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome | 4.6 | 75 | Citations (PDF) |
| 81 | PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data | 2.3 | 17 | Citations (PDF) |
| 82 | Cluster Analysis of Clinical Data Identifies Fibromyalgia Subgroups | 2.3 | 57 | Citations (PDF) |
| 83 | Small non-coding RNAs add complexity to the RNA pathogenic mechanisms in trinucleotide repeat expansion diseases | 3.4 | 10 | Citations (PDF) |
| 84 | Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing | 3.0 | 43 | Citations (PDF) |
| 85 | Response to Methadone Maintenance Treatment is Associated with the MYOCD and GRM6 Genes | 3.7 | 30 | Citations (PDF) |
| 86 | A Pathogenic Mechanism in Huntington's Disease Involves Small CAG-Repeated RNAs with Neurotoxic Activity | 3.2 | 179 | Citations (PDF) |
| 87 | Association between the NMDA glutamate receptor GRIN2B gene and obsessive–compulsive disorder | 2.1 | 50 | Citations (PDF) |
| 88 | DNA Hypomethylation at
ALOX12
Is Associated with Persistent Wheezing in Childhood | 8.9 | 106 | Citations (PDF) |
| 89 | Common variants at 12q15 and 12q24 are associated with infant head circumference | 25.2 | 136 | Citations (PDF) |
| 90 | KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron | 25.2 | 312 | Citations (PDF) |
| 91 | Genetic epistasis in female suicide attempters | 3.8 | 9 | Citations (PDF) |
| 92 | Influence of fetal glutathione S‐transferase copy number variants on adverse reproductive outcomes | 3.1 | 11 | Citations (PDF) |
| 93 | Aberrant brain microRNA target and miRISC gene expression in the anx/anx anorexia mouse model | 2.3 | 13 | Citations (PDF) |
| 94 | Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity | 25.2 | 972 | Citations (PDF) |
| 95 | BLUEPRINT to decode the epigenetic signature written in blood | 29.8 | 347 | Citations (PDF) |
| 96 | Association of Neurexin 3 polymorphisms with smoking behavior | 2.3 | 30 | Citations (PDF) |
| 97 | Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity | 3.0 | 68 | Citations (PDF) |
| 98 | Interaction of SLC1A1 gene variants and life stress on pharmacological resistance in obsessive–compulsive disorder | 2.6 | 17 | Citations (PDF) |
| 99 | New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism | 25.2 | 309 | Citations (PDF) |
| 100 | Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia | 37.9 | 1,440 | Citations (PDF) |
| 101 | MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function | 2.9 | 481 | Citations (PDF) |
| 102 | Human microRNAs miR-22, miR-138-2, miR-148a, and miR-488 Are Associated with Panic Disorder and Regulate Several Anxiety Candidate Genes and Related Pathways | 5.4 | 177 | Citations (PDF) |
| 103 | Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | 37.9 | 446 | Citations (PDF) |
| 104 | D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness | 2.3 | 32 | Citations (PDF) |
| 105 | Genetic Variants of the FADS Gene Cluster and ELOVL Gene Family, Colostrums LC-PUFA Levels, Breastfeeding, and Child Cognition | 2.3 | 117 | Citations (PDF) |
| 106 | DNA methylation in neurodegenerative disorders: a missing link between genome and environment? | 2.1 | 54 | Citations (PDF) |
| 107 | High risk of lifetime history of suicide attempts among CYP2D6 ultrarapid metabolizers with eating disorders | 7.8 | 47 | Citations (PDF) |
| 108 | Variants in estrogen receptor alpha gene are associated with phenotypical expression of obsessive-compulsive disorder | 2.7 | 41 | Citations (PDF) |
| 109 | Maternal C-reactive protein levels in pregnancy are associated with wheezing and lower respiratory tract infections in the offspring | 2.4 | 30 | Citations (PDF) |
| 110 | Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: A study in Spanish and Italian populations and meta-analysis | 6.1 | 33 | Citations (PDF) |
| 111 | Meta-Analysis Confirms the LCE3C_LCE3B Deletion as a Risk Factor for Psoriasis in Several Ethnic Groups and Finds Interaction with HLA-Cw6 | 2.3 | 98 | Citations (PDF) |
| 112 | ADRB2Gly16Arg polymorphism, asthma control and lung function decline | 8.7 | 28 | Citations (PDF) |
| 113 | A non-biased framework for the annotation and classification of the non-miRNA small RNA transcriptome | 4.7 | 57 | Citations (PDF) |
| 114 | Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia | 25.2 | 948 | Citations (PDF) |
| 115 | Overexpression of the CHRNA5/A3/B4 genomic cluster in mice increases the sensitivity to nicotine and modifies its reinforcing effects | 2.3 | 36 | Citations (PDF) |
| 116 | Nucleotide variation in central nervous system genes among male suicide attempters | 1.5 | 18 | Citations (PDF) |
| 117 | Independent Contribution of Common CFTR Variants to Chronic Pancreatitis | 0.9 | 31 | Citations (PDF) |
| 118 | Correlation of BDNF blood levels with interoceptive awareness and maturity fears in anorexia and bulimia nervosa patients | 3.4 | 23 | Citations (PDF) |
| 119 | Association study of 44 candidate genes with depressive and anxiety symptoms in post-partum women | 2.9 | 82 | Citations (PDF) |
| 120 | Role of the neurotrophin network in eating disorders’ subphenotypes: Body mass index and age at onset of the disease | 2.9 | 10 | Citations (PDF) |
| 121 | Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients | 2.9 | 68 | Citations (PDF) |
| 122 | Gene expression signatures in breast cancer distinguish phenotype characteristics, histologic subtypes, and tumor invasiveness | 4.0 | 65 | Citations (PDF) |
| 123 | Variants at APOE influence risk of deep and lobar intracerebral hemorrhage | 6.6 | 267 | Citations (PDF) |
| 124 | Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis | 6.1 | 28 | Citations (PDF) |
| 125 | Overexpression of miR-128 specifically inhibits the truncated isoform of NTRK3 and upregulates BCL2 in SH-SY5Y neuroblastoma cells | 4.0 | 82 | Citations (PDF) |
| 126 | Resequencing and association analysis of arylalkylamine N-acetyltransferase (AANAT) gene and its contribution to major depression susceptibility | 6.9 | 37 | Citations (PDF) |
| 127 | Characterization of a mouse model overexpressing beta‐site APP‐cleaving enzyme 2 reveals a new role for BACE2 | 2.3 | 23 | Citations (PDF) |
| 128 | A haplotype of glycogen synthase kinase 3β is associated with early onset of unipolar major depression | 2.3 | 52 | Citations (PDF) |
| 129 | Additional support for the association of SLITRK1 var321 and Tourette syndrome | 7.8 | 56 | Citations (PDF) |
| 130 | A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1 | 25.2 | 1,008 | Citations (PDF) |
| 131 | Positionally cloned genes and age-specific effects in asthma and atopy: an international population-based cohort study (ECRHS) | 5.6 | 27 | Citations (PDF) |
| 132 | Genetic variants and abnormal processing of pre-miR-182, a circadian clock modulator, in major depression patients with late insomnia | 2.9 | 160 | Citations (PDF) |
| 133 | SeqBuster, a bioinformatic tool for the processing and analysis of small RNAs datasets, reveals ubiquitous miRNA modifications in human embryonic cells | 15.5 | 183 | Citations (PDF) |
| 134 | A myriad of miRNA variants in control and Huntington’s disease brain regions detected by massively parallel sequencing | 15.5 | 304 | Citations (PDF) |
| 135 | Deletion of Late Cornified Envelope 3B and 3C Genes Is Not Associated with Atopic Dermatitis | 2.3 | 29 | Citations (PDF) |
| 136 | Replication of LCE3C–LCE3B CNV as a Risk Factor for Psoriasis and Analysis of Interaction with Other Genetic Risk Factors | 2.3 | 63 | Citations (PDF) |
| 137 | Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients | 6.9 | 35 | Citations (PDF) |
| 138 | Assessment of the Neuropeptide S System in Anxiety Disorders | 5.4 | 88 | Citations (PDF) |
| 139 | Differential Association of Circadian Genes with Mood Disorders: CRY1 and NPAS2 are Associated with Unipolar Major Depression and CLOCK and VIP with Bipolar Disorder | 5.4 | 344 | Citations (PDF) |
| 140 | Gene–environment interaction in anorexia nervosa: relevance of non-shared environment and the serotonin transporter gene | 7.8 | 62 | Citations (PDF) |
| 141 | CYP2D6 polymorphism in patients with eating disorders | 2.6 | 25 | Citations (PDF) |
| 142 | Genetic Structure of Europeans: A View from the North–East | 2.3 | 298 | Citations (PDF) |
| 143 | Aneuploidy: From a Physiological Mechanism of Variance to Down Syndrome | 25.4 | 124 | Citations (PDF) |
| 144 | GSTM1 polymorphisms modify the effect of maternal smoking during pregnancy on cognitive functioning in preschoolers | 4.9 | 26 | Citations (PDF) |
| 145 | Positive Selection and Gene Conversion Drive the Evolution of a Brain-Expressed snoRNAs Cluster | 4.7 | 4 | Citations (PDF) |
| 146 | Traffic-Related Air Pollution, Oxidative Stress Genes, and Asthma (ECHRS) | 8.3 | 82 | Citations (PDF) |
| 147 | Association between leptin receptor (LEPR) and brain-derived neurotrophic factor (BDNF) gene variants and obesity: a case-control study | 3.6 | 13 | Citations (PDF) |
| 148 | Joint effect of obesity andTNFAvariability on asthma: two international cohort studies | 8.7 | 46 | Citations (PDF) |
| 149 | Absence of cytogenetic effects in children and adults with attention-deficit/hyperactivity disorder treated with methylphenidate | 1.8 | 19 | Citations (PDF) |
| 150 | Accounting for uncertainty when assessing association between copy number and disease: a latent class model | 3.0 | 22 | Citations (PDF) |
| 151 | Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non‐synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment | 1.5 | 105 | Citations (PDF) |
| 152 | Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene (NTRK3) as susceptibility factors for anxiety disorders | 4.5 | 94 | Citations (PDF) |
| 153 | A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS) | 1.8 | 44 | Citations (PDF) |
| 154 | BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1 | 1.8 | 37 | Citations (PDF) |
| 155 | Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis | 25.2 | 513 | Citations (PDF) |
| 156 | Are MYO1C and MYO1F associated with hearing loss? | 4.1 | 29 | Citations (PDF) |
| 157 | A Brain-Derived Neurotrophic Factor Haplotype Is Associated with Therapeutic Response in Obsessive-Compulsive Disorder | 5.4 | 37 | Citations (PDF) |
| 158 | Case-Control Study of Six Genes Asymmetrically Expressed in the Two Cerebral Hemispheres: Association of BAIAP2 with Attention-Deficit/Hyperactivity Disorder | 5.4 | 66 | Citations (PDF) |
| 159 | Functional variants of the serotonin receptor type 3A and B gene are associated with eating disorders | 1.2 | 36 | Citations (PDF) |
| 160 | Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profilingBlood, 2009, 113, 3059-3069 | 4.8 | 167 | Citations (PDF) |
| 161 | Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease | 3.0 | 37 | Citations (PDF) |
| 162 | Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia | 7.8 | 77 | Citations (PDF) |
| 163 | Identification of Copy Number Variants Defining Genomic Differences among Major Human Groups | 2.3 | 33 | Citations (PDF) |
| 164 | Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism | 2.3 | 21 | Citations (PDF) |
| 165 | Developmental analysis of Lingo‐1/Lern1 protein expression in the mouse brain: Interaction of its intracellular domain with Myt1l | 2.0 | 46 | Citations (PDF) |
| 166 | An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss | 4.5 | 78 | Citations (PDF) |
| 167 | Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations | 4.5 | 46 | Citations (PDF) |
| 168 | Maximizing association statistics over genetic models | 3.1 | 106 | Citations (PDF) |
| 169 | DYRK1A-Dosage Imbalance Perturbs NRSF/REST Levels, Deregulating Pluripotency and Embryonic Stem Cell Fate in Down Syndrome | 6.5 | 154 | Citations (PDF) |
| 170 | Targeting Dyrk1A with AAVshRNA Attenuates Motor Alterations in TgDyrk1A, a Mouse Model of Down Syndrome | 6.5 | 64 | Citations (PDF) |
| 171 | BDNF variability in opioid addicts and response to methadone treatment: preliminary findings | 2.3 | 56 | Citations (PDF) |
| 172 | Genetic susceptibility to obsessive‐compulsive hoarding: the contribution of neurotrophic tyrosine kinase receptor type 3 gene1 | 2.3 | 46 | Citations (PDF) |
| 173 | Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA) | 3.0 | 17 | Citations (PDF) |
| 174 | Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility | 3.3 | 29 | Citations (PDF) |
| 175 | Contribution of the serotoninergic system to anxious and depressive traits that may be partially responsible for the phenotypical variability of bulimia nervosa | 2.9 | 38 | Citations (PDF) |
| 176 | Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia | 2.9 | 20 | Citations (PDF) |
| 177 | Extensive Genotyping of the BDNF and NTRK2 Genes Define Protective Haplotypes Against Obsessive-Compulsive Disorder | 5.4 | 69 | Citations (PDF) |
| 178 | Association Study of 10 Genes Encoding Neurotrophic Factors and Their Receptors in Adult and Child Attention-Deficit/Hyperactivity Disorder | 5.4 | 100 | Citations (PDF) |
| 179 | Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes | 34.5 | 778 | Citations (PDF) |
| 180 | Efficient and specific transduction of cochlear supporting cells by adeno-associated virus serotype 5 | 1.9 | 32 | Citations (PDF) |
| 181 | Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds | 2.3 | 3 | Citations (PDF) |
| 182 | Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders | 2.9 | 54 | Citations (PDF) |
| 183 | Origin of Primate Orphan Genes: A Comparative Genomics Approach | 4.7 | 231 | Citations (PDF) |
| 184 | TNFA-308G>A in two international population-based cohorts and risk of asthma | 8.7 | 29 | Citations (PDF) |
| 185 | Hypothalamus transcriptome profile suggests an anorexia-cachexia syndrome in the anx/anx mouse model | 2.4 | 25 | Citations (PDF) |
| 186 | Influence of Glutathione
S
-Transferase Polymorphisms on Cognitive Functioning Effects Induced by
p,p
′-DDT among Preschoolers | 8.3 | 35 | Citations (PDF) |
| 187 | SNPassoc: an R package to perform whole genome association studies | 4.7 | 697 | Citations (PDF) |
| 188 | Copy Number Variants and Common Disorders: Filling the Gaps and Exploring Complexity in Genome-Wide Association Studies | 3.2 | 185 | Citations (PDF) |
| 189 | RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress: a potential pathogenic process in neurodegeneration | 2.9 | 87 | Citations (PDF) |
| 190 | Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations | 3.8 | 53 | Citations (PDF) |
| 191 | Renaming the
DSCR1 / Adapt78
gene family as
RCAN
: regulators of calcineurin | 0.6 | 164 | Citations (PDF) |
| 192 | Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events | 2.9 | 33 | Citations (PDF) |
| 193 | Brain-Derived Neurotrophic Factor Val66Met and Psychiatric Disorders: Meta-Analysis of Case-Control Studies Confirm Association to Substance-Related Disorders, Eating Disorders, and Schizophrenia | 5.4 | 398 | Citations (PDF) |
| 194 | Contiguous deletion of theNDP,MAOA,MAOB, andEFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy | 1.5 | 28 | Citations (PDF) |
| 195 | Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifiesC9orf14as a candidate tumor-suppressor | 3.0 | 10 | Citations (PDF) |
| 196 | MRPS18CP2 alleles and DEFA3absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene | 1.8 | 10 | Citations (PDF) |
| 197 | Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability | 46.9 | 402 | Citations (PDF) |
| 198 | Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project | 37.9 | 4,902 | Citations (PDF) |
| 199 | Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles | 2.1 | 13 | Citations (PDF) |
| 200 | Spectrum of Mutations in the CFTR Gene in Cystic Fibrosis Patients of Spanish Ancestry | 1.1 | 62 | Citations (PDF) |
| 201 | Altered brain‐derived neurotrophic factor blood levels and gene variability are associated with anorexia and bulimia | 2.3 | 81 | Citations (PDF) |
| 202 | Candidate genes for panic disorder: insight from human and mouse genetic studies | 2.3 | 25 | Citations (PDF) |
| 203 | Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability | 3.3 | 21 | Citations (PDF) |
| 204 | X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation | 3.3 | 58 | Citations (PDF) |
| 205 | A brain-derived neurotrophic factor (BDNF) haplotype is associated with antidepressant treatment outcome in mood disorders | 2.6 | 78 | Citations (PDF) |
| 206 | Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB | 7.8 | 145 | Citations (PDF) |
| 207 | Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations | 6.5 | 223 | Citations (PDF) |
| 208 | Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment | 2.1 | 64 | Citations (PDF) |
| 209 | Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations | 2.1 | 33 | Citations (PDF) |
| 210 | Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene | 2.1 | 41 | Citations (PDF) |
| 211 | Reply to correspondence by Abreu-Silva et al. regarding Ballana et al.: Mutation T1291C in the mitochondrial 12S rRNA gene involved in deafness in a Cuban family belongs to the macrohaplogroup L1 of African origin | 2.1 | 1 | Citations (PDF) |
| 212 | Cooperation to amplify gene-dosage-imbalance effects | 7.4 | 17 | Citations (PDF) |
| 213 | A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family | 1.2 | 5 | Citations (PDF) |
| 214 | Genome assembly comparison identifies structural variants in the human genome | 25.2 | 152 | Citations (PDF) |
| 215 | Global variation in copy number in the human genome | 37.9 | 4,056 | Citations (PDF) |
| 216 | Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization | 2.9 | 35 | Citations (PDF) |
| 217 | Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome | 2.9 | 69 | Citations (PDF) |
| 218 | Transgenic mice overexpressing the full-length neurotrophin receptor TrkC exhibit increased catecholaminergic neuron density in specific brain areas and increased anxiety-like behavior and panic reaction | 5.1 | 52 | Citations (PDF) |
| 219 | A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness | 4.5 | 4 | Citations (PDF) |
| 220 | Differential responses to anxiogenic drugs in a mouse model of panic disorder as revealed by Fos immunocytochemistry in specific areas of the fear circuitry | 2.3 | 14 | Citations (PDF) |
| 221 | Contribution of NTRK2 to the genetic susceptibility to anorexia nervosa, Harm avoidance and minimum body mass index | 7.8 | 50 | Citations (PDF) |
| 222 | Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro | 4.5 | 47 | Citations (PDF) |
| 223 | Murine segmental duplications are hot spots for chromosome and gene evolution | 2.8 | 28 | Citations (PDF) |
| 224 | Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations | 2.9 | 199 | Citations (PDF) |
| 225 | Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations? | 2.1 | 89 | Citations (PDF) |
| 226 | Small marker chromosomes in two patients with segmental aneusomy for proximal 17p | 2.9 | 24 | Citations (PDF) |
| 227 | Combined family trio and case‐control analysis of the COMT Val158Met polymorphism in European patients with anorexia nervosa | 1.5 | 44 | Citations (PDF) |
| 228 | Characterization of the segmental duplication LCR7-20 in the human genome | 2.8 | 7 | Citations (PDF) |
| 229 | Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation | 1.3 | 77 | Citations (PDF) |
| 230 | Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3 | 1.3 | 69 | Citations (PDF) |
| 231 | On dendrites in Down syndrome and DS murine models: a spiny way to learn | 5.9 | 131 | Citations (PDF) |
| 232 | Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunction | 5.1 | 78 | Citations (PDF) |
| 233 | Different CFTR Mutational Spectrum in Alcoholic and Idiopathic Chronic Pancreatitis? | 0.9 | 34 | Citations (PDF) |
| 234 | Haploinsufficiency of Dyrk1A in Mice Leads to Specific Alterations in the Development and Regulation of Motor Activity. | 1.0 | 70 | Citations (PDF) |
| 235 | Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations | 3.0 | 137 | Citations (PDF) |
| 236 | Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome | 2.0 | 4 | Citations (PDF) |
| 237 | Dyrk1A expression pattern supports specific roles of this kinase in the adult central nervous system | 2.5 | 132 | Citations (PDF) |
| 238 | The molecular basis of glutamate formiminotransferase deficiency | 4.5 | 65 | Citations (PDF) |
| 239 | Suitability of oligonucleotide-mediated cystic fibrosis gene repair in airway epithelial cells | 2.4 | 5 | Citations (PDF) |
| 240 | Human nuclear transcription factor geneCREM: Genomic organization, mutation screening, and association analysis in panic disorder 2003, 117B, 70-78 | | 23 | Citations (PDF) |
| 241 | Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type | 7.8 | 180 | Citations (PDF) |
| 242 | LRRN6A/LERN1 (leucine-rich repeat neuronal protein 1), a novel gene with enriched expression in limbic system and neocortex | 3.5 | 82 | Citations (PDF) |
| 243 | Wiskott–Aldrich syndrome in a female with skewed X-chromosome inactivation | 1.6 | 35 | Citations (PDF) |
| 244 | Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements | 2.9 | 133 | Citations (PDF) |
| 245 | Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence | 8.1 | 215 | Citations (PDF) |
| 246 | DYRK1A accumulates in splicing speckles through a novel targeting signal and induces speckle disassembly | 2.4 | 160 | Citations (PDF) |
| 247 | Alterations of Neocortical Pyramidal Cell Phenotype in the Ts65Dn Mouse Model of Down Syndrome: Effects of Environmental Enrichment | 2.8 | 142 | Citations (PDF) |
| 248 | Phosphorylation of calcipressin 1 increases its ability to inhibit calcineurin and decreases calcipressin half-life | 3.8 | 97 | Citations (PDF) |
| 249 | Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions | 2.9 | 131 | Citations (PDF) |
| 250 | Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus | 2.9 | 135 | Citations (PDF) |
| 251 | Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons | 3.0 | 100 | Citations (PDF) |
| 252 | Dyrk1A Haploinsufficiency Affects Viability and Causes Developmental Delay and Abnormal Brain Morphology in Mice | 2.5 | 340 | Citations (PDF) |
| 253 | Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome | 2.9 | 80 | Citations (PDF) |
| 254 | Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea | 2.6 | 20 | Citations (PDF) |
| 255 | Connexin mutations in hearing loss, dermatological and neurological disorders | 7.4 | 77 | Citations (PDF) |
| 256 | Neurobehavioral development of two mouse lines commonly used in transgenic studies | 2.3 | 53 | Citations (PDF) |
| 257 | Intratumoral activation of cyclophosphamide by retroviral transfer of the cytochrome P450 2B1 in a pancreatic tumor model. Combination with the HSVtk/GCV system | 2.4 | 20 | Citations (PDF) |
| 258 | Non-viral vector-mediated uptake, distribution, and stability of chimeraplasts in human airway epithelial cells | 2.4 | 15 | Citations (PDF) |
| 259 | A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families | 4.5 | 18 | Citations (PDF) |
| 260 | Cloning of S4D-SRCRB, a new soluble member of the group B scavenger receptor cysteine-rich family (SRCR-SF) mapping to human Chromosome 7q11.23 | 2.8 | 14 | Citations (PDF) |
| 261 | Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. | 2.9 | 90 | Citations (PDF) |
| 262 | 5′ UTR-region SNP in the NTRK3 gene is associated with panic disorder | 7.8 | 31 | Citations (PDF) |
| 263 | The 5-HT2A −1438G/A polymorphism in anorexia nervosa: a combined analysis of 316 trios from six European centres | 7.8 | 11 | Citations (PDF) |
| 264 | Análisis de las regiones de predisposición a la psoriasis en la población española: evidencia de un gen principal implicado en la psoriasis en la región 6p21 | 0.8 | 2 | Citations (PDF) |
| 265 | Presence of a Major WFS1 Mutation in Spanish Wolfram Syndrome Pedigrees | 1.3 | 69 | Citations (PDF) |
| 266 | Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressed in the primitive ventricle of the heart and during neurogenesis | 2.6 | 59 | Citations (PDF) |
| 267 | Identification and characterization of BTBD1 , a novel BTB domain containing gene on human chromosome 15q24 | 2.3 | 15 | Citations (PDF) |
| 268 | PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family | 2.3 | 25 | Citations (PDF) |
| 269 | PALML, a novel paralemmin-related gene mapping on human chromosome 1p21 | 2.3 | 11 | Citations (PDF) |
| 270 | Murine models for Down syndrome | 2.2 | 62 | Citations (PDF) |
| 271 | A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders | 33.6 | 221 | Citations (PDF) |
| 272 | Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment | 2.9 | 117 | Citations (PDF) |
| 273 | Cloning, Mapping and Expression Analysis of C15 or f4, a Novel Human Gene with Homology to the Yeast Mitochondrial Ribosomal Protein Yml30 Gene | 0.5 | 2 | Citations (PDF) |
| 274 | Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes | 2.9 | 4 | Citations (PDF) |
| 275 | Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21 | 0.5 | 1 | Citations (PDF) |
| 276 | Retrovirus-mediated transfer of the herpes simplex virus thymidine kinase and connexin26 genes in pancreatic cells results in variable efficiency on the bystander killing: Implications for gene therapy | 4.3 | 32 | Citations (PDF) |
| 277 | Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome | 0.5 | 23 | Citations (PDF) |
| 278 | Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations | 2.9 | 73 | Citations (PDF) |
| 279 | Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas | 25.2 | 76 | Citations (PDF) |
| 280 | R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease? | 3.0 | 12 | Citations (PDF) |
| 281 | ATB0/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis | 3.0 | 11 | Citations (PDF) |
| 282 | PTOV1, a novel protein overexpressed in prostate cancer containing a new class of protein homology blocks | 6.5 | 67 | Citations (PDF) |
| 283 | Identification and characterization of UBXD1, a novel UBX domain-containing gene on human chromosome 19p13, and its mouse ortholog | 3.4 | 14 | Citations (PDF) |
| 284 | Characterization of human FSD1, a novel brain specific gene on chromosome 19 with paralogy to 9q31 | 3.4 | 9 | Citations (PDF) |
| 285 | The human intersectin genes and their spliced variants are differentially expressed | 3.4 | 57 | Citations (PDF) |
| 286 | Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria | 2.9 | 137 | Citations (PDF) |
| 287 | Adenosine Triphosphate-Binding Cassette Superfamily Transporter Gene Expression in Severe Male Infertility1 | 2.5 | 20 | Citations (PDF) |
| 288 | Cystic fibrosis transmembrane regulator (CFTR) Delta F508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer | 16.8 | 108 | Citations (PDF) |
| 289 | Modifier locus for mitochondrial DNA disease: Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness | 4.2 | 57 | Citations (PDF) |
| 290 | Identification of C15orf5, a Heart-Enriched Transcript on Chromosome 15q23-q24 | 0.5 | 1 | Citations (PDF) |
| 291 | Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome | 2.9 | 380 | Citations (PDF) |
| 292 | Additional Complexity on Human Chromosome 15q: Identification of a Set of Newly Recognized Duplicons (LCR15) on 15q11–q13, 15q24, and 15q26 | 4.6 | 61 | Citations (PDF) |
| 293 | Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1->qter duplication | 3.8 | 8 | Citations (PDF) |
| 294 | Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study | 3.8 | 30 | Citations (PDF) |
| 295 | Evaluation of the role of CFTR in alcohol related pancreatic disease | 16.8 | 0 | Citations (PDF) |
| 296 | Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in thePROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, variants | 4.5 | 26 | Citations (PDF) |
| 297 | Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene | 4.5 | 17 | Citations (PDF) |
| 298 | Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins | 4.5 | 201 | Citations (PDF) |
| 299 | High carrier frequency of the 35delG deafness mutation in European populations | 3.0 | 377 | Citations (PDF) |
| 300 | Isolation and characterisation of a novel human gene (C9orf11) on chromosome 9p21, a region frequently deleted in human cancer | 3.4 | 7 | Citations (PDF) |
| 301 | Title is missing! | 5.3 | 8 | Citations (PDF) |
| 302 | Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe | 2.9 | 137 | Citations (PDF) |
| 303 | DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways | 2.9 | 440 | Citations (PDF) |
| 304 | Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA | 15.5 | 48 | Citations (PDF) |
| 305 | Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1 | 2.9 | 328 | Citations (PDF) |
| 306 | Association Study of the Chromosomal Region Containing the FCER2 Gene Suggests It Has a Regulatory Role in Atopic Disorders | 8.9 | 42 | Citations (PDF) |
| 307 | Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;p11.2) interrupting the PMP22 gene | 3.8 | 77 | Citations (PDF) |
| 308 | Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations | 2.9 | 249 | Citations (PDF) |
| 309 | Genes as causes: scientific fact or simplistic thinking? | 2.9 | 5 | Citations (PDF) |
| 310 | Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AAright-arrowG shows a severe phenotype | 3.8 | 7 | Citations (PDF) |
| 311 | Rare variants in the promoter of the fragile X syndrome gene (FMR1) | 2.6 | 16 | Citations (PDF) |
| 312 | Mutations in the Mitochondrial tRNA Ser(UCN) and in the GJB2 (Connexin 26) Gene Are Not Modifiers of the Age at Onset or Severity of Hearing Loss in Spanish Patients with the 12S rRNA A1555G Mutation | 6.5 | 18 | Citations (PDF) |
| 313 | Candidate Locus for a Nuclear Modifier Gene for Maternally Inherited Deafness | 6.5 | 105 | Citations (PDF) |
| 314 | Intersectin 2, a new multimodular protein involved in clathrin-mediated endocytosis | 2.7 | 88 | Citations (PDF) |
| 315 | Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene | 2.9 | 176 | Citations (PDF) |
| 316 | Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens | 1.0 | 136 | Citations (PDF) |
| 317 | Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes | 3.7 | 7 | Citations (PDF) |
| 318 | A High-Resolution Physical Map of Human Chromosome 21p Using Yeast Artificial Chromosomes | 4.6 | 24 | Citations (PDF) |
| 319 | Mutational analysis within the 3′ region of the PKD1 gene | 5.3 | 42 | Citations (PDF) |
| 320 | Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus | 25.2 | 357 | Citations (PDF) |
| 321 | Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT | 25.2 | 311 | Citations (PDF) |
| 322 | Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13 | 25.2 | 217 | Citations (PDF) |
| 323 | Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome | 3.0 | 76 | Citations (PDF) |
| 324 | Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases | 2.9 | 141 | Citations (PDF) |
| 325 | A new protocol to type the Ts65Dn mouse model for Down syndrome by FISH in newborn or embryo tissue imprints | 0.0 | 0 | Citations (PDF) |
| 326 | Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency 1999, 14, 30-39 | | 31 | Citations (PDF) |
| 327 | Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions | 4.5 | 62 | Citations (PDF) |
| 328 | Missense mutations in the cystic fibrosis gene in adult patients with asthma | 4.5 | 51 | Citations (PDF) |
| 329 | Splice-site mutation in thePDS gene may result in intrafamilial variability for deafness in Pendred syndrome 1999, 14, 520-526 | | 39 | Citations (PDF) |
| 330 | Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation 1999, 19, 739-742 | | 18 | Citations (PDF) |
| 331 | Anticipation is not associated with CAG repeat expansion in parent-offspring pairs of patients affected with schizophrenia 1999, 88, 50-56 | | 14 | Citations (PDF) |
| 332 | A Loss-of-Function Model for Cystogenesis in Human Autosomal Dominant Polycystic Kidney Disease Type 2 | 6.5 | 53 | Citations (PDF) |
| 333 | The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness | 6.5 | 115 | Citations (PDF) |
| 334 | Cloning, expression and chromosomal localization of a human testis 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase gene | 2.3 | 38 | Citations (PDF) |
| 335 | Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region | 2.3 | 6 | Citations (PDF) |
| 336 | Genetic engineering approaches for organ transplantation | 0.7 | 0 | Citations (PDF) |
| 337 | Tools of gene transfer in organ transplantation | 0.7 | 0 | Citations (PDF) |
| 338 | HumanMinibrainHomologue (MNBH/DYRK1): Characterization, Alternative Splicing, Differential Tissue Expression, and Overexpression in Down Syndrome | 2.8 | 180 | Citations (PDF) |
| 339 | Recombinant Families Locate the Gene for Non-Type I Cystinuria between Markers C13 and D19S587 on Chromosome 19q13.1 | 2.8 | 11 | Citations (PDF) |
| 340 | Cloning and Characterization of DYRK1B, a Novel Member of the DYRK Family of Protein Kinases | 2.1 | 81 | Citations (PDF) |
| 341 | Vestibular and hearing loss in genetic and metabolic disorders | 3.8 | 7 | Citations (PDF) |
| 342 | Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis | 4.5 | 8 | Citations (PDF) |
| 343 | Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families | 4.5 | 16 | Citations (PDF) |
| 344 | Retention of theCDKN2A locus and low frequency of point mutations in primary and metastasic cutaneous malignant melanoma 1998, 76, 312-316 | | 36 | Citations (PDF) |
| 345 | Two novel mutations in exon 11 of thePAH gene (V1163 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria 1998, 11, 482-482 | | 24 | Citations (PDF) |
| 346 | Isolation and genomic characterization of the TUPLE1/HIRA gene of the pufferfish Fugu rubripes | 2.3 | 13 | Citations (PDF) |
| 347 | Connexin-26 mutations in sporadic and inherited sensorineural deafness | 62.1 | 631 | Citations (PDF) |
| 348 | Facilitated diagnosis of the contiguous gene syndrome: Tuberous sclerosis and polycystic kidneys by means of haplotype studies | 1.4 | 39 | Citations (PDF) |
| 349 | Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides | 6.5 | 527 | Citations (PDF) |
| 350 | A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene | 6.5 | 64 | Citations (PDF) |
| 351 | Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes | 6.5 | 521 | Citations (PDF) |
| 352 | Cloning, Chromosome Mapping and Expression Analysis of theHIRAgene fromDrosophila melanogaster | 2.1 | 9 | Citations (PDF) |
| 353 | Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method. | 3.8 | 6 | Citations (PDF) |
| 354 | Large CAG/CTG repeat templates produced by PCR, usefulness for the DIRECT method of cloning genes with CAG/CTG repeat expansions | 15.5 | 13 | Citations (PDF) |
| 355 | Testicular CFTR Splice Variants in Patients with Congenital Absence of the Vas Deferens | 2.9 | 75 | Citations (PDF) |
| 356 | Role of UEV-1, an Inactive Variant of the E2 UbiquitinConjugating Enzymes, in In Vitro Differentiation and Cell Cycle Behavior of HT-29-M6 Intestinal Mucosecretory Cells | 2.5 | 149 | Citations (PDF) |
| 357 | A patient with autistic disorder and a 20/22 chromosomal translocation | 3.6 | 16 | Citations (PDF) |
| 358 | Maternal transmission in sporadic Huntington's disease. | 6.3 | 14 | Citations (PDF) |
| 359 | HLA Class II Genes in Soybean Epidemic Asthma Patients | 8.9 | 34 | Citations (PDF) |
| 360 | Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH. | 3.8 | 93 | Citations (PDF) |
| 361 | Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans | 2.9 | 567 | Citations (PDF) |
| 362 | Cosmid Contig and Transcriptional Map of Three Regions of Human Chromosome 21q22: Identification of 37 Novel Transcripts by Direct Selection | 2.8 | 11 | Citations (PDF) |
| 363 | Genomic Organization, Alternative Splicing, and Expression Patterns of theDSCR1(Down Syndrome Candidate Region 1) Gene | 2.8 | 189 | Citations (PDF) |
| 364 | Confirmation of a Double-Hit Model for the NF1Gene in Benign Neurofibromas | 6.5 | 236 | Citations (PDF) |
| 365 | Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA amount in human brain with aging | 2.6 | 145 | Citations (PDF) |
| 366 | Absence of Linkage Between Type III Protein S Deficiency and the PROS1 and C4BP Genes in Families Carrying the Protein S Heerlen AlleleBlood, 1997, 89, 2799-2806 | 4.8 | 25 | Citations (PDF) |
| 367 | Rapid sizing of polymorphic microsatellite markers by capillary array electrophoresis | 3.7 | 29 | Citations (PDF) |
| 368 | Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation Rapid Communication | 5.3 | 67 | Citations (PDF) |
| 369 | Qualitative and Quantitative Changes in Skeletal Muscle mtDNA and Expression of Mitochondrial-Encoded Genes in the Human Aging Process | 1.8 | 81 | Citations (PDF) |
| 370 | Analysis of amino-acid and nucleotide variants in the spinocerebellar ataxia type 1 ( SCA1 ) gene in schizophrenic patients | 2.9 | 7 | Citations (PDF) |
| 371 | Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation | 2.9 | 29 | Citations (PDF) |
| 372 | Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients | 2.9 | 3 | Citations (PDF) |
| 373 | Alu -splice PCR: a simple method to isolate exon-containing fragments from cloned human genomic DNA | 2.9 | 16 | Citations (PDF) |
| 374 | Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A ( P16INK4A ) gene | 2.9 | 59 | Citations (PDF) |
| 375 | High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes | 2.9 | 94 | Citations (PDF) |
| 376 | SSCP analysis: A blind sensitivity trial 1997, 10, 65-70 | | 64 | Citations (PDF) |
| 377 | Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations | 4.5 | 260 | Citations (PDF) |
| 378 | Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency | 4.5 | 16 | Citations (PDF) |
| 379 | Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients | 4.5 | 14 | Citations (PDF) |
| 380 | The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: Usefulness and limitations | 4.5 | 10 | Citations (PDF) |
| 381 | Genomic Structure and Organization of the HumanrBATGene (SLC3A1) | 2.8 | 22 | Citations (PDF) |
| 382 | Geographic distribution and origin of CFTR mutations in Germany | 2.9 | 26 | Citations (PDF) |
| 383 | The effect of zidovudine on skeletal muscle mtDNA in HIV-1 infected patients with mild or no muscle dysfunctionBrain, 1996, 119, 1357-1364 | 8.4 | 69 | Citations (PDF) |
| 384 | Homozygosity for R87H missense mutation and for a rare intron 7 DNA variant (7054G???A) in the PROC genes of three siblings initially classified as heterozygotes for protein C deficiency | 1.0 | 21 | Citations (PDF) |
| 385 | CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France | 2.9 | 29 | Citations (PDF) |
| 386 | A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion | 2.9 | 22 | Citations (PDF) |
| 387 | Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism | 2.9 | 46 | Citations (PDF) |
| 388 | YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome | 2.9 | 19 | Citations (PDF) |
| 389 | Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients | 2.9 | 98 | Citations (PDF) |
| 390 | Genomic organization of TUPLEl/HIRA: a gene implicated in DiGeorge syndrome | 2.3 | 11 | Citations (PDF) |
| 391 | PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS IN A HIGHLY HETEROGENEOUS POPULATION 1996, 16, 215-222 | | 12 | Citations (PDF) |
| 392 | Recurrence of thePROC gene mutation R178Q: Independent origins in Spanish protein C deficiency patients | 4.5 | 3 | Citations (PDF) |
| 393 | Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphicCFTR DNA markers 1996, 8, 149-159 | | 43 | Citations (PDF) |
| 394 | Identification of two new nonsense mutations Q311X and W326X in Exon 2 of the adrenoleukodystrophy (ALD) gene | 4.5 | 4 | Citations (PDF) |
| 395 | Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene. | 3.8 | 39 | Citations (PDF) |
| 396 | Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis. | 6.3 | 8 | Citations (PDF) |
| 397 | Development in a 46 XX Boy with Positive SRY Gene | 0.8 | 16 | Citations (PDF) |
| 398 | A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region | 2.9 | 204 | Citations (PDF) |
| 399 | Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation. | 3.8 | 12 | Citations (PDF) |
| 400 | Cloning (CAG/GTC)n STSs by an Alu-(CAG/GTC)n PCR method: an approach to human chromosome 12 and spinocerebellar ataxia 2 (SCA2) | 15.5 | 2 | Citations (PDF) |
| 401 | Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. | 3.8 | 36 | Citations (PDF) |
| 402 | Ectopic Transcript Analysis Indicates that Allelic Exclusion is an Important Cause of Type I Protein C Deficiency in Patients with Nonsense and Frameshift Mutations in the PROC Gene | 4.1 | 7 | Citations (PDF) |
| 403 | A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. | 10.6 | 99 | Citations (PDF) |
| 404 | The molecular basis of cystinuria: the role of the rBAT gene | 2.3 | 13 | Citations (PDF) |
| 405 | Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. | 7.5 | 104 | Citations (PDF) |
| 406 | Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred | 1.0 | 151 | Citations (PDF) |
| 407 | Simultaneous On-line DNA Sequencing on Both Strands with Two Fluorescent Dyes | 2.4 | 40 | Citations (PDF) |
| 408 | Predominant occurrence of somatic mutations of theNF2 gene in meningiomas and schwannomas | 3.0 | 136 | Citations (PDF) |
| 409 | Amplifying dinucleotide microsatellite loci from bone and tooth samples of up to 5000 years of age: more inconsistency than usefulness | 2.9 | 44 | Citations (PDF) |
| 410 | The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence | 2.9 | 12 | Citations (PDF) |
| 411 | A novel polymorphism (6376 G/T) in intron 7 of the human protein C gene | 2.9 | 1 | Citations (PDF) |
| 412 | Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected | 2.9 | 96 | Citations (PDF) |
| 413 | De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene | 2.9 | 8 | Citations (PDF) |
| 414 | Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization | 2.9 | 30 | Citations (PDF) |
| 415 | Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation | 2.9 | 16 | Citations (PDF) |
| 416 | Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1 | 2.9 | 2 | Citations (PDF) |
| 417 | Five new microsatellite polymorphisms at the q21 region of human chromosome 21 | 2.9 | 1 | Citations (PDF) |
| 418 | Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences | 2.9 | 38 | Citations (PDF) |
| 419 | Identification of two highly polymorphic CA-repeats (D21S1224 and D21S1261) on human chromosome 21q22.3 | 2.9 | 3 | Citations (PDF) |
| 420 | Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers | 2.3 | 10 | Citations (PDF) |
| 421 | Rapid fetal karyotype from cystic hygroma and pleural effusions | 2.3 | 79 | Citations (PDF) |
| 422 | Prenatal diagnosis of fragile x syndrome: (cgg)n expansion and methylation of chorionic villus samples | 2.3 | 59 | Citations (PDF) |
| 423 | WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia | 2.9 | 149 | Citations (PDF) |
| 424 | A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart | 2.9 | 258 | Citations (PDF) |
| 425 | The human collagenase-3 (CLG3) gene is located on chromosome 11q22.3 clustered to other members of the matrix metalloproteinase gene family | 2.8 | 49 | Citations (PDF) |
| 426 | Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens | 34.5 | 992 | Citations (PDF) |
| 427 | Severe Type I Protein C Deficiency in a Compound Heterozygote for Y124C and Q132X Mutations in Exon 6 of the PROC Gene | 4.1 | 11 | Citations (PDF) |
| 428 | A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data. | 3.8 | 3 | Citations (PDF) |
| 429 | Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1). | 3.8 | 11 | Citations (PDF) |
| 430 | Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother | 2.9 | 72 | Citations (PDF) |
| 431 | A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations. | 3.8 | 7 | Citations (PDF) |
| 432 | Identification of a new frameshift mutation (1801delAG) in the ALD gene | 2.9 | 26 | Citations (PDF) |
| 433 | Two novel mutations in exon 5 of the protein C gene in two Spanish families with thrombophilia due to protein C deficiency | 2.9 | 1 | Citations (PDF) |
| 434 | Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father | 34.5 | 151 | Citations (PDF) |
| 435 | Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families | 2.9 | 22 | Citations (PDF) |
| 436 | Complete detection of mutations in cystic fibrosis patients of Native American origin | 2.9 | 35 | Citations (PDF) |
| 437 | Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene | 2.9 | 81 | Citations (PDF) |
| 438 | Three CA/GT repeat polymorphisms from loci D21S414 and D21S1234 on human chromosome 21 | 2.9 | 3 | Citations (PDF) |
| 439 | Carrier detection and microsatellite analysis of duchenne and becker muscular dystrophy in spanish families | 2.3 | 4 | Citations (PDF) |
| 440 | Prenatal diagnosis of werdnig-hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers | 2.3 | 5 | Citations (PDF) |
| 441 | Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14) | 4.5 | 31 | Citations (PDF) |
| 442 | New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines | 4.5 | 44 | Citations (PDF) |
| 443 | Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine | 25.2 | 387 | Citations (PDF) |
| 444 | The origin of the major cystic fibrosis mutation (ΔF508) in European populations | 25.2 | 334 | Citations (PDF) |
| 445 | Reply to — Age of the ΔF508 cystic fibrosis mutation | 25.2 | 25 | Citations (PDF) |
| 446 | Severe Homozygous Protein C Deficiency: Identification of a Splice Site Missense Mutation (184, Q → H) in Exon 7 of the Protein C Gene | 4.1 | 7 | Citations (PDF) |
| 447 | Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency | 2.9 | 4 | Citations (PDF) |
| 448 | A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene | 2.9 | 85 | Citations (PDF) |
| 449 | Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population | 1.9 | 10 | Citations (PDF) |
| 450 | Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene | 2.9 | 47 | Citations (PDF) |
| 451 | Isolation and Characterization of 14 CA-Repeat Microsatellites from Human Chromosome 21 | 2.8 | 12 | Citations (PDF) |
| 452 | A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype | 2.9 | 27 | Citations (PDF) |
| 453 | Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers | 2.9 | 100 | Citations (PDF) |
| 454 | Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families | 2.9 | 31 | Citations (PDF) |
| 455 | Haplotype analysis to determine the position of a mutation among closely linked DNA markers | 2.9 | 19 | Citations (PDF) |
| 456 | Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype | 2.9 | 20 | Citations (PDF) |
| 457 | Two dinucleotide repeat polymorphisms at 21q22.3 (D21S416 and D21S1235) | 2.9 | 3 | Citations (PDF) |
| 458 | Identification of a 31-bp insertion (3860ins31) in exon 20 of the cysticfibrosis (CFTR) gene | 2.9 | 7 | Citations (PDF) |
| 459 | Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion | 2.9 | 32 | Citations (PDF) |
| 460 | Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias | 2.9 | 93 | Citations (PDF) |
| 461 | Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes | 2.2 | 118 | Citations (PDF) |
| 462 | Multiplex PCR amplification of three microsatellites within the CFTR gene | 2.8 | 75 | Citations (PDF) |
| 463 | Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis | 2.6 | 13 | Citations (PDF) |
| 464 | Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene | 2.9 | 21 | Citations (PDF) |
| 465 | A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene | 2.9 | 6 | Citations (PDF) |
| 466 | Continuum of overlapping clones spanning the entire human chromosome 21q | 37.9 | 437 | Citations (PDF) |
| 467 | Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients | 4.5 | 12 | Citations (PDF) |
| 468 | Protein C deficiency: Identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families | 4.5 | 5 | Citations (PDF) |
| 469 | CAGT Microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover | 2.8 | 129 | Citations (PDF) |
| 470 | High conservation of sequences involved in cystic fibrosis mutations in five mammalian species | 2.8 | 10 | Citations (PDF) |
| 471 | The search for South European cystic fibrosis mutations: Identification of two new mutations, four variants, and intronic sequences | 2.8 | 119 | Citations (PDF) |
| 472 | Prenatal diagnosis of cystic fibrosis by simultaneous analysis of two different mutations | 2.3 | 1 | Citations (PDF) |
| 473 | A tetranucleotide repeat polymorphism in the cystic fibrosis gene | 2.9 | 35 | Citations (PDF) |
| 474 | Analysis of 14 cystic fibrosis mutations in five South European populations | 2.9 | 52 | Citations (PDF) |
| 475 | Mspl restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene | 15.5 | 0 | Citations (PDF) |
| 476 | Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families. | 3.8 | 11 | Citations (PDF) |
| 477 | SSCP-polymorphism in intron 12 of the CFTR gene recognized by Bcll | 15.5 | 14 | Citations (PDF) |
| 478 | PCR detection of the pKM.19/Scrfl RFLP (D7S23), a marker closely linked to the cystic fibrosis mutation | 15.5 | 3 | Citations (PDF) |
| 479 | Distribution of the ΔF508 mutation in 194 Spanish cystic fibrosis families | 2.9 | 17 | Citations (PDF) |
| 480 | Cystic fibrosis mutation ΔF508 in Finland: other mutations predominate | 2.9 | 12 | Citations (PDF) |
| 481 | Δ F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families | 2.3 | 8 | Citations (PDF) |
| 482 | A polymorphic DNA probe from chromosome 7 (7q22) | 15.5 | 1 | Citations (PDF) |
| 483 | Scrfl restriction fragment length polymorphism at the D7S23 locus (probe pKM.19), closely linked to cystic fibrosis | 15.5 | 3 | Citations (PDF) |
| 484 | The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis. | 3.8 | 9 | Citations (PDF) |
| 485 | A new polymorphic locus, D7S411, isolated by cloning from preparative pulse-field gels is close to the mutation causing cystic fibrosis | 2.8 | 15 | Citations (PDF) |
| 486 | Polymerase chain reaction for detection of the pMP6d-9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation | 15.5 | 27 | Citations (PDF) |
| 487 | Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus | 2.9 | 2 | Citations (PDF) |
| 488 | Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus | 2.9 | 3 | Citations (PDF) |
| 489 | GENETIC DIFFERENCES BETWEEN CYSTIC FIBROSIS WITH AND WITHOUT MECONIUM ILEUS | 62.1 | 57 | Citations (PDF) |
| 490 | Experience with New DNA Markers for the Diagnosis of Cystic Fibrosis | 34.5 | 54 | Citations (PDF) |
| 491 | Isolation and mapping of a polymorphic DNA sequence pXH3 on chromosome X [DXS235] | 15.5 | 0 | Citations (PDF) |
| 492 | Isolation of a human gene with protein sequence similarity to human and murine int-1 and the Drosophila segment polarity mutant wingless. | 7.3 | 83 | Citations (PDF) |
| 493 | A rapid method to identify cosmids containing rare restriction site | 15.5 | 23 | Citations (PDF) |
| 494 | Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus | 15.5 | 20 | Citations (PDF) |
| 495 | Patterns of polymorphism and linkage disequilibrium for cystic fibrosis | 2.8 | 166 | Citations (PDF) |
| 496 | A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands | 37.9 | 364 | Citations (PDF) |
| 497 | Chromosome assignment and restriction fragment length polymorphism analysis of the anonymous DNA probe B79a at 7q22 (HMG8 assignment D7S13) | 2.9 | 25 | Citations (PDF) |
| 498 | Molecular Genetics and the Basic Defect Causing Cystic Fibrosis | 1.6 | 1 | Citations (PDF) |
| 499 | CHRONIC T‐CELL LYMPHOCYTOSIS ASSOCIATED WITH PURE RED CELL APLASIA, THYMOMA AND HYPOGAMMAGLOBULINAEMIA | 2.7 | 16 | Citations (PDF) |
| 500 | Plasmatic and Urinary Protein C Levels in Nephrotic Syndrome | 4.1 | 5 | Citations (PDF) |
| 501 | Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution | 2.9 | 12 | Citations (PDF) |
| 502 | Contribution of the
TTC21B
gene to glomerular and cystic kidney diseases | 0.8 | 31 | Citations (PDF) |
| 503 | Identification of autosomal cis expression quantitative trait methylation (cis eQTMs) in children’s blood | 0.7 | 58 | Citations (PDF) |
| 504 | Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene: Figure 1 | 3.8 | 0 | Citations (PDF) |
