| 1 | Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variants | 6.5 | 4 | Citations (PDF) |
| 2 | Identification of the Molecular Components of Enhancer-Mediated Gene Expression Variation in Multiple Tissues Regulating Blood Pressure | 6.6 | 3 | Citations (PDF) |
| 3 | Interleukin-1 Receptor Antagonist Gene (IL1RN) Variants Modulate the Cytokine Release Syndrome and Mortality of COVID-19 | 3.7 | 5 | Citations (PDF) |
| 4 | Ret
deficiency decreases neural crest progenitor proliferation and restricts fate potential during enteric nervous system development | 7.5 | 32 | Citations (PDF) |
| 5 | Cardiac muscle–restricted partial loss of
Nos1ap
expression has limited but significant impact on electrocardiographic features | 1.9 | 5 | Citations (PDF) |
| 6 | Tissue-specific and tissue-agnostic effects of genome sequence variation modulating blood pressure | 6.3 | 7 | Citations (PDF) |
| 7 | RET enhancer haplotype-dependent remodeling of the human fetal gut development program | 3.2 | 12 | Citations (PDF) |
| 8 | Genome‐wide pleiotropy analysis identifies novel blood pressure variants and improves its polygenic risk scores | 3.1 | 18 | Citations (PDF) |
| 9 | Interferon pathway lupus risk alleles modulate risk of death from acute COVID-19 | 4.0 | 15 | Citations (PDF) |
| 10 | Deborah A. Nickerson (1954 –2021) | 4.6 | 0 | Citations (PDF) |
| 11 | Identifying Needs, Challenges, and Benefits Among Adults and Parents of Children With Hirschsprung Disease | 2.2 | 2 | Citations (PDF) |
| 12 | C. Thomas Caskey (1938–2022) | 4.6 | 1 | Citations (PDF) |
| 13 | Rare coding variants in RCN3 are associated with blood pressure | 3.3 | 11 | Citations (PDF) |
| 14 | Quality assessment and refinement of chromatin accessibility data using a sequence-based predictive model | 7.5 | 10 | Citations (PDF) |
| 15 | Multi-ancestry genome-wide association study accounting for gene-psychosocial factor interactions identifies novel loci for blood pressure traits | 1.6 | 9 | Citations (PDF) |
| 16 | Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus | 2.9 | 28 | Citations (PDF) |
| 17 | Multiple, independent, common variants at RET, SEMA3 and NRG1 gut enhancers specify Hirschsprung disease risk in European ancestry subjects | 2.0 | 6 | Citations (PDF) |
| 18 | Sequence-based correction of barcode bias in massively parallel reporter assays | 4.6 | 7 | Citations (PDF) |
| 19 | Magnitude of Mendelian versus complex inheritance of rare disorders | 1.5 | 16 | Citations (PDF) |
| 20 | A multi-enhancer
RET
regulatory code is disrupted in Hirschsprung disease | 4.6 | 25 | Citations (PDF) |
| 21 | The road ahead in genetics and genomics | 46.9 | 179 | Citations (PDF) |
| 22 | Analysis of putative cis-regulatory elements regulating blood pressure variation | 2.9 | 11 | Citations (PDF) |
| 23 | MicroRNA-4516-mediated regulation of MAPK10 relies on 3′ UTR cis-acting variants and contributes to the altered risk of Hirschsprung disease | 3.8 | 7 | Citations (PDF) |
| 24 | A gene regulatory network explains RET–EDNRB epistasis in Hirschsprung disease | 2.9 | 39 | Citations (PDF) |
| 25 | Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations | 3.1 | 16 | Citations (PDF) |
| 26 | Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data | 2.9 | 35 | Citations (PDF) |
| 27 | Multiple
SCN5A
variant enhancers modulate its cardiac gene expression and the QT interval | 7.5 | 28 | Citations (PDF) |
| 28 | Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease | 34.5 | 180 | Citations (PDF) |
| 29 | A multi-ancestry genome-wide study incorporating gene–smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure | 2.9 | 45 | Citations (PDF) |
| 30 | Gene- and tissue-level interactions in normal gastrointestinal development and Hirschsprung disease | 7.5 | 28 | Citations (PDF) |
| 31 | Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits | 6.5 | 141 | Citations (PDF) |
| 32 | Cardiomyocytes have mosaic patterns of protein expression | 1.5 | 19 | Citations (PDF) |
| 33 | Response to Brosens et al | 4.2 | 0 | Citations (PDF) |
| 34 | A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure | 6.5 | 157 | Citations (PDF) |
| 35 | Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus | 3.0 | 30 | Citations (PDF) |
| 36 | RET somatic mutations are underrecognized in Hirschsprung disease | 4.2 | 26 | Citations (PDF) |
| 37 | A comprehensive evaluation of the genetic architecture of sudden cardiac arrest | 2.2 | 84 | Citations (PDF) |
| 38 | Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits | 25.2 | 1,346 | Citations (PDF) |
| 39 | Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation | 1.2 | 7 | Citations (PDF) |
| 40 | The genetic underpinnings of variation in ages at menarche and natural menopause among women from the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) Study: A trans-ethnic meta-analysis | 2.3 | 32 | Citations (PDF) |
| 41 | Human cardiac
cis
-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants | 4.6 | 32 | Citations (PDF) |
| 42 | Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries | 2.3 | 117 | Citations (PDF) |
| 43 | Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31 | 3.0 | 5 | Citations (PDF) |
| 44 | Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk | 25.2 | 580 | Citations (PDF) |
| 45 | Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes | 8.1 | 87 | Citations (PDF) |
| 46 | Testing the Ret and Sema3d genetic interaction in mouse enteric nervous system development | 2.9 | 11 | Citations (PDF) |
| 47 | Gene-by-Psychosocial Factor Interactions Influence Diastolic Blood Pressure in European and African Ancestry Populations: Meta-Analysis of Four Cohort Studies | 2.9 | 7 | Citations (PDF) |
| 48 | Rare variants in fox-1 homolog A (RBFOX1) are associated with lower blood pressure | 3.2 | 20 | Citations (PDF) |
| 49 | Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations | 3.2 | 94 | Citations (PDF) |
| 50 | MicroRNAs in the miR-17 and miR-15 families are downregulated in chronic kidney disease with hypertension | 2.3 | 45 | Citations (PDF) |
| 51 | Variant Discovery and Fine Mapping of Genetic Loci Associated with Blood Pressure Traits in Hispanics and African Americans | 2.3 | 31 | Citations (PDF) |
| 52 | Revealing rate‐limiting steps in complex disease biology: The crucial importance of studying rare, extreme‐phenotype families | 2.1 | 56 | Citations (PDF) |
| 53 | Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung DiseaseCell, 2016, 167, 355-368.e10 | 33.6 | 147 | Citations (PDF) |
| 54 | 52 Genetic Loci Influencing Myocardial Mass | 2.3 | 132 | Citations (PDF) |
| 55 | Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci | 25.2 | 264 | Citations (PDF) |
| 56 | The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals | 25.2 | 416 | Citations (PDF) |
| 57 | Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa | 3.4 | 53 | Citations (PDF) |
| 58 | Rare coding TTN variants are associated with electrocardiographic QT interval in the general population | 3.4 | 14 | Citations (PDF) |
| 59 | Rare Exome Sequence Variants in
CLCN6
Reduce Blood Pressure Levels and Hypertension Risk | 3.8 | 48 | Citations (PDF) |
| 60 | Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease | 36.3 | 519 | Citations (PDF) |
| 61 | Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation | 25.2 | 333 | Citations (PDF) |
| 62 | The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study | 3.2 | 402 | Citations (PDF) |
| 63 | Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms | 2.9 | 73 | Citations (PDF) |
| 64 | Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability | 6.5 | 130 | Citations (PDF) |
| 65 | Intestinal Neuronal Dysplasia-Like Submucosal Ganglion Cell Hyperplasia at the Proximal Margins of Hirschsprung Disease Resections | 1.1 | 25 | Citations (PDF) |
| 66 | New genetic loci link adipose and insulin biology to body fat distribution | 37.9 | 1,589 | Citations (PDF) |
| 67 | Genetic studies of body mass index yield new insights for obesity biology | 37.9 | 4,533 | Citations (PDF) |
| 68 | Directional dominance on stature and cognition in diverse human populations | 37.9 | 199 | Citations (PDF) |
| 69 | The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities | 6.5 | 628 | Citations (PDF) |
| 70 | Loss of δ-catenin function in severe autism | 37.9 | 172 | Citations (PDF) |
| 71 | Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns | 2.9 | 51 | Citations (PDF) |
| 72 | Perspectives on Human Variation through the Lens of Diversity and Race: Figure 1. | 7.2 | 22 | Citations (PDF) |
| 73 | Direct Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC) | 2.3 | 56 | Citations (PDF) |
| 74 | HPASubC: A suite of tools for user subclassification of human protein atlas tissue images | 2.3 | 14 | Citations (PDF) |
| 75 | Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index | 3.2 | 87 | Citations (PDF) |
| 76 | Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease | 2.0 | 39 | Citations (PDF) |
| 77 | A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder | 2.9 | 61 | Citations (PDF) |
| 78 | Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci | 6.5 | 168 | Citations (PDF) |
| 79 | Linkage analysis incorporating gene–age interactions identifies seven novel lipid loci: The Family Blood Pressure Program | 1.5 | 11 | Citations (PDF) |
| 80 | Generation of a cre recombinase-conditional Nos1ap over-expression transgenic mouse | 1.9 | 4 | Citations (PDF) |
| 81 | Gene-Age Interactions in Blood Pressure Regulation: A Large-Scale Investigation with the CHARGE, Global BPgen, and ICBP Consortia | 6.5 | 127 | Citations (PDF) |
| 82 | Effects of Long-Term Averaging of Quantitative Blood Pressure Traits on the Detection of Genetic Associations | 6.5 | 81 | Citations (PDF) |
| 83 | Defining the role of common variation in the genomic and biological architecture of adult human height | 25.2 | 1,982 | Citations (PDF) |
| 84 | Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization | 25.2 | 325 | Citations (PDF) |
| 85 | Common variation in fatty acid metabolic genes and risk of incident sudden cardiac arrest | 2.7 | 17 | Citations (PDF) |
| 86 | An Enhancer Polymorphism at the Cardiomyocyte Intercalated Disc Protein NOS1AP Locus Is a Major Regulator of the QT Interval | 6.5 | 82 | Citations (PDF) |
| 87 | Sequence Analysis of Six Blood Pressure Candidate Regions in 4,178 Individuals: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study | 2.3 | 19 | Citations (PDF) |
| 88 | Discovery and refinement of loci associated with lipid levels | 25.2 | 3,040 | Citations (PDF) |
| 89 | Common variants associated with plasma triglycerides and risk for coronary artery disease | 25.2 | 851 | Citations (PDF) |
| 90 | Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model | 1.9 | 127 | Citations (PDF) |
| 91 | Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs | 25.2 | 2,286 | Citations (PDF) |
| 92 | Loci influencing blood pressure identified using a cardiovascular gene-centric array | 2.9 | 147 | Citations (PDF) |
| 93 | Genetics and Genomics for the Prevention and Treatment of Cardiovascular Disease: Update | 18.0 | 121 | Citations (PDF) |
| 94 | Associations between NOS1AP Single Nucleotide Polymorphisms (SNPs) and QT Interval Duration in Four Racial/Ethnic Groups in the Multi‐Ethnic Study of Atherosclerosis (MESA) | 1.0 | 13 | Citations (PDF) |
| 95 | Trans-Ethnic Fine-Mapping of Lipid Loci Identifies Population-Specific Signals and Allelic Heterogeneity That Increases the Trait Variance Explained | 3.2 | 115 | Citations (PDF) |
| 96 | Effects of Rare and Common Blood Pressure Gene Variants on Essential Hypertension | 13.1 | 26 | Citations (PDF) |
| 97 | Genetic variation associated with circulating monocyte count in the eMERGE Network | 2.9 | 58 | Citations (PDF) |
| 98 | Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease | 2.3 | 26 | Citations (PDF) |
| 99 | A Polymorphic 3’UTR Element in ATP1B1 Regulates Alternative Polyadenylation and Is Associated with Blood Pressure | 2.3 | 19 | Citations (PDF) |
| 100 | Defining the Contribution of CNTNAP2 to Autism Susceptibility | 2.3 | 33 | Citations (PDF) |
| 101 | Next-Generation Sequencing of Human Mitochondrial Reference Genomes Uncovers High Heteroplasmy Frequency | 3.1 | 67 | Citations (PDF) |
| 102 | Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease | 3.0 | 10 | Citations (PDF) |
| 103 | Meta-analysis identifies six new susceptibility loci for atrial fibrillation | 25.2 | 590 | Citations (PDF) |
| 104 | Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer | 4.5 | 33 | Citations (PDF) |
| 105 | Quantifying and Modeling Birth Order Effects in Autism | 2.3 | 27 | Citations (PDF) |
| 106 | SNPs and Other Features as They Predispose to Complex Disease: Genome-Wide Predictive Analysis of a Quantitative Phenotype for Hypertension | 2.3 | 5 | Citations (PDF) |
| 107 | Mining gold dust under the genome wide significance level: a two‐stage approach to analysis of GWAS | 3.1 | 46 | Citations (PDF) |
| 108 | A multilevel model to address batch effects in copy number estimation using SNP arrays | 2.1 | 44 | Citations (PDF) |
| 109 | Association of Hypertension Drug Target Genes With Blood Pressure and Hypertension in 86 588 Individuals | 6.6 | 196 | Citations (PDF) |
| 110 | A Bivariate Genome-Wide Approach to Metabolic Syndrome | 4.2 | 242 | Citations (PDF) |
| 111 | Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium | 2.9 | 78 | Citations (PDF) |
| 112 | Genomic contributions to Mendelian disease | 4.6 | 18 | Citations (PDF) |
| 113 | Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study | 2.9 | 169 | Citations (PDF) |
| 114 | Five Blood Pressure Loci Identified by an Updated Genome-Wide Linkage Scan: Meta-Analysis of the Family Blood Pressure Program | 2.0 | 17 | Citations (PDF) |
| 115 | Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure | 25.2 | 424 | Citations (PDF) |
| 116 | Multiple Loci Are Associated with White Blood Cell Phenotypes | 3.2 | 112 | Citations (PDF) |
| 117 | Exploring Biologically Relevant Pathways in Frailty | 3.4 | 56 | Citations (PDF) |
| 118 | Identification of a Sudden Cardiac Death Susceptibility Locus at 2q24.2 through Genome-Wide Association in European Ancestry Individuals | 3.2 | 128 | Citations (PDF) |
| 119 | Genome-Wide Association Study of Coronary Heart Disease and Its Risk Factors in 8,090 African Americans: The NHLBI CARe Project | 3.2 | 302 | Citations (PDF) |
| 120 | Copy Number Variants in Candidate Genes Are Genetic Modifiers of Hirschsprung Disease | 2.3 | 58 | Citations (PDF) |
| 121 | Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability | 6.5 | 240 | Citations (PDF) |
| 122 | Genome-wide association study of PR interval | 25.2 | 422 | Citations (PDF) |
| 123 | Common variants in KCNN3 are associated with lone atrial fibrillation | 25.2 | 468 | Citations (PDF) |
| 124 | Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction | 25.2 | 342 | Citations (PDF) |
| 125 | Mendelian disorders and multifactorial traits: the big divide or one for all? | 46.9 | 77 | Citations (PDF) |
| 126 | Genome-Wide Association Study Identifies GPC5 as a Novel Genetic Locus Protective against Sudden Cardiac Arrest | 2.3 | 57 | Citations (PDF) |
| 127 | Parent-Of-Origin Effects in Autism Identified through Genome-Wide Linkage Analysis of 16,000 SNPs | 2.3 | 34 | Citations (PDF) |
| 128 | Polymorphisms in the Mitochondrial DNA Control Region and Frailty in Older Adults | 2.3 | 48 | Citations (PDF) |
| 129 | Genome-Wide Association Studies of Serum Magnesium, Potassium, and Sodium Concentrations Identify Six Loci Influencing Serum Magnesium Levels | 3.2 | 227 | Citations (PDF) |
| 130 | Polymorphisms in the NOS1APGene Modulate QT Interval Duration and Risk of Arrhythmias in the Long QT Syndrome | 2.3 | 170 | Citations (PDF) |
| 131 | Multiple Independent Genetic Factors at NOS1AP Modulate the QT Interval in a Multi-Ethnic Population | 2.3 | 28 | Citations (PDF) |
| 132 | Mitochondrial DNA Variants of Respiratory Complex I that Uniquely Characterize Haplogroup T2 Are Associated with Increased Risk of Age-Related Macular Degeneration | 2.3 | 94 | Citations (PDF) |
| 133 | Genetic Variations in Nitric Oxide Synthase 1 Adaptor Protein Are Associated With Sudden Cardiac Death in US White Community-Based Populations | 18.0 | 174 | Citations (PDF) |
| 134 | Positional identification of variants of Adamts16 linked to inherited hypertension | 2.9 | 60 | Citations (PDF) |
| 135 | Whole-genome association study identifies
STK39
as a hypertension susceptibility gene | 7.5 | 291 | Citations (PDF) |
| 136 | Hybrids of aneuploid human cancer cells permit complementation of simple and complex cancer defects | 4.1 | 3 | Citations (PDF) |
| 137 | The Association of Cell Cycle Checkpoint 2 Variants and Kidney Function: Findings of the Family Blood Pressure Program and the Atherosclerosis Risk in Communities Study | 2.0 | 1 | Citations (PDF) |
| 138 | Hemostasis, Inflammation, and Fatal and Nonfatal Coronary Heart Disease | 6.0 | 41 | Citations (PDF) |
| 139 | Drug-Sensitized Zebrafish Screen Identifies Multiple Genes, Including
GINS3
, as Regulators of Myocardial Repolarization | 18.0 | 111 | Citations (PDF) |
| 140 | Understanding cardiovascular disease through the lens of genome-wide association studies | 9.8 | 72 | Citations (PDF) |
| 141 | Interaction between a chromosome 10RETenhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association | 4.5 | 62 | Citations (PDF) |
| 142 | Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study | 3.0 | 54 | Citations (PDF) |
| 143 | A genome-wide linkage and association scan reveals novel loci for autism | 37.9 | 596 | Citations (PDF) |
| 144 | Finding the missing heritability of complex diseases | 37.9 | 8,172 | Citations (PDF) |
| 145 | Common variants at ten loci modulate the QT interval duration in the QTSCD Study | 25.2 | 379 | Citations (PDF) |
| 146 | Genome-wide association study of blood pressure and hypertension | 25.2 | 1,296 | Citations (PDF) |
| 147 | Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry | 25.2 | 382 | Citations (PDF) |
| 148 | Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium | 25.2 | 343 | Citations (PDF) |
| 149 | Diabetes and the risk of sudden cardiac death, the Atherosclerosis Risk in Communities study | 2.2 | 72 | Citations (PDF) |
| 150 | Association between Microdeletion and Microduplication at 16p11.2 and Autism | 34.5 | 1,625 | Citations (PDF) |
| 151 | Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program | 3.0 | 70 | Citations (PDF) |
| 152 | Validation and extension of an empirical Bayes method for SNP calling on Affymetrix microarrays | 12.2 | 30 | Citations (PDF) |
| 153 | Genetics of disease | 3.2 | 0 | Citations (PDF) |
| 154 | Allele-specific expression in the germline of patients with familial pancreatic cancer: An unbiased approach to cancer gene discovery | 4.1 | 44 | Citations (PDF) |
| 155 | Estimating Genome-Wide Copy Number Using Allele-Specific Mixture Models | 1.5 | 17 | Citations (PDF) |
| 156 | Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture | 3.2 | 57 | Citations (PDF) |
| 157 | An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertension | 2.9 | 32 | Citations (PDF) |
| 158 | Multiple Genes for Essential-Hypertension Susceptibility on Chromosome 1q | 6.5 | 101 | Citations (PDF) |
| 159 | Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits | 3.2 | 1,554 | Citations (PDF) |
| 160 | Genome-wide detection and characterization of positive selection in human populations | 37.9 | 2,071 | Citations (PDF) |
| 161 | A second generation human haplotype map of over 3.1 million SNPs | 37.9 | 4,309 | Citations (PDF) |
| 162 | An investigation of genome-wide associations of hypertension with microsatellite markers in the family blood pressure program (FBPP) | 2.9 | 26 | Citations (PDF) |
| 163 | Human embryonic stem cells have a unique epigenetic signature | 4.6 | 253 | Citations (PDF) |
| 164 | Evidence for a gene influencing heart rate on chromosome 5p13-14 in a meta-analysis of genome-wide scans from the NHLBI Family Blood Pressure Program | 1.8 | 11 | Citations (PDF) |
| 165 | A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization | 25.2 | 520 | Citations (PDF) |
| 166 | The impact of data quality on the identification of complex disease genes: experience from the Family Blood Pressure Program | 3.0 | 19 | Citations (PDF) |
| 167 | Identifying Allelic Loss and Homozygous Deletions in Pancreatic Cancer without Matched Normals Using High-Density Single-Nucleotide Polymorphism Arrays | 3.8 | 80 | Citations (PDF) |
| 168 | High Incidence of Deafness from Three Frequent Connexin 26 Mutations in an Isolated Community | 1.5 | 12 | Citations (PDF) |
| 169 | Genomic alterations in cultured human embryonic stem cells | 25.2 | 607 | Citations (PDF) |
| 170 | A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk | 37.9 | 454 | Citations (PDF) |
| 171 | A Population Association Study of Angiotensinogen Polymorphisms and Haplotypes With Left Ventricular Phenotypes | 6.6 | 17 | Citations (PDF) |
| 172 | Evaluation of the
RET
regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer | 2.9 | 77 | Citations (PDF) |
| 173 | On the probability that a novel variant is a disease-causing mutation | 4.6 | 26 | Citations (PDF) |
| 174 | Haploinsufficiency of t
e
lomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita | 7.5 | 453 | Citations (PDF) |
| 175 | Phenotype–genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence | 7.5 | 40 | Citations (PDF) |
| 176 | Differential Susceptibility to Hypertension Is Due to Selection during the Out-of-Africa Expansion | 3.2 | 213 | Citations (PDF) |
| 177 | Haplotype and Missing Data Inference in Nuclear Families | 4.6 | 43 | Citations (PDF) |
| 178 | The Human MitoChip: A High-Throughput Sequencing Microarray for Mitochondrial Mutation Detection | 4.6 | 220 | Citations (PDF) |
| 179 | Positional Identification of Hypertension Susceptibility Genes on Chromosome 2 | 6.6 | 89 | Citations (PDF) |
| 180 | From The Cover: The gene for soluble N-ethylmaleimide sensitive factor attachment protein is mutated in hydrocephaly with hop gait (hyh) mice | 7.5 | 69 | Citations (PDF) |
| 181 | Discrepancies in dbSNP confirmation rates and allele frequency distributions from varying genotyping error rates and patterns | 4.7 | 53 | Citations (PDF) |
| 182 | Genomics in Sudden Cardiac Death | 13.1 | 91 | Citations (PDF) |
| 183 | Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies | 25.2 | 155 | Citations (PDF) |
| 184 | A trisomic transmission disequilibrium test | 3.1 | 7 | Citations (PDF) |
| 185 | Safety issues in cell-based intervention trials | 2.9 | 76 | Citations (PDF) |
| 186 | Undetected Genotyping Errors Cause Apparent Overtransmission of Common Alleles in the Transmission/Disequilibrium Test | 6.5 | 161 | Citations (PDF) |
| 187 | A Genome-Wide Linkage Analysis Investigating the Determinants of Blood Pressure in Whites and African Americans | 2.0 | 61 | Citations (PDF) |
| 188 | Development of Human Protein Reference Database as an Initial Platform for Approaching Systems Biology in Humans | 4.6 | 988 | Citations (PDF) |
| 189 | Erythrocyte Sodium-Lithium Countertransport and Blood Pressure | 6.6 | 21 | Citations (PDF) |
| 190 | Sequence variations in the public human genome data reflect a bottlenecked population history | 7.5 | 113 | Citations (PDF) |
| 191 | Linkage Disequilibrium and Haplotype Diversity in the Genes of the Renin–Angiotensin System: Findings From the Family Blood Pressure Program | 4.6 | 72 | Citations (PDF) |
| 192 | Phenotype variation in two-locus mouse models of Hirschsprung disease: Tissue-specific interaction between
Ret
and
Ednrb | 7.5 | 145 | Citations (PDF) |
| 193 | Associations Between Hypertension and Genes in the Renin-Angiotensin System | 6.6 | 118 | Citations (PDF) |
| 194 | viewGene: A Graphical Tool for Polymorphism Visualization and Characterization | 4.6 | 16 | Citations (PDF) |
| 195 | An Evaluation of the Assembly of an Approximately 15-Mb Region on Human Chromosome 13q32–q33 Linked to Bipolar Disorder and Schizophrenia | 2.8 | 18 | Citations (PDF) |
| 196 | Future of genetics of mood disorders research | 5.4 | 120 | Citations (PDF) |
| 197 | Haplotype Inference in Random Population Samples | 6.5 | 176 | Citations (PDF) |
| 198 | Cloning of rat thymic stromal lymphopoietin receptor (TSLPR) and characterization of genomic structure of murine Tslpr gene | 2.3 | 7 | Citations (PDF) |
| 199 | Segregation Analysis of Blood Pressure and Body Mass Index in a Rural US Community | 0.1 | 9 | Citations (PDF) |
| 200 | Idiopathic congenital central hypoventilation syndrome: Evaluation of brain-derived neurotrophic factor genomic DNA sequence variation | 0.5 | 66 | Citations (PDF) |
| 201 | Chronic constipation due to Hirschsprung's disease and desmosis coli in a family | 1.3 | 10 | Citations (PDF) |
| 202 | Segregation at three loci explains familial and population risk in Hirschsprung disease | 25.2 | 275 | Citations (PDF) |
| 203 | Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease | 25.2 | 272 | Citations (PDF) |
| 204 | A BDNF Coding Variant is Associated with the NEO Personality Inventory Domain Neuroticism, a Risk Factor for Depression | 5.4 | 327 | Citations (PDF) |
| 205 | High anxiety and the Trp460 mutation of the α adducin gene predict higher blood pressure | 2.0 | 0 | Citations (PDF) |
| 206 | High-Throughput Variation Detection and Genotyping Using Microarrays | 4.6 | 259 | Citations (PDF) |
| 207 | EDNRB/EDN3
and Hirschsprung Disease Type II | 0.0 | 100 | Citations (PDF) |
| 208 | The winged helix/forkhead transcription factor Foxq1 regulates differentiation of hair in satin mice | 1.2 | 103 | Citations (PDF) |
| 209 | Testing for Colon Neoplasia Susceptibility Variants at the Human COX2 Locus | 4.6 | 15 | Citations (PDF) |
| 210 | The Human Genome Sequence Expedition: Views from the "Base Camp" | 4.6 | 16 | Citations (PDF) |
| 211 | Lack of association of the angiotensinogen-6 polymorphism with blood pressure levels in the comprehensive NHLBI Family Blood Pressure Program | 2.1 | 46 | Citations (PDF) |
| 212 | A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus | 7.5 | 207 | Citations (PDF) |
| 213 | Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: The Lyon repeat hypothesis | 7.5 | 400 | Citations (PDF) |
| 214 | Parallel Genotyping of Human SNPs Using Generic High-density Oligonucleotide Tag Arrays | 4.6 | 274 | Citations (PDF) |
| 215 | Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21 | 4.6 | 48 | Citations (PDF) |
| 216 | Parental Origin and Phenotype of Triploidy in Spontaneous Abortions: Predominance of Diandry and Association with the Partial Hydatidiform Mole | 6.5 | 347 | Citations (PDF) |
| 217 | Linkage Disequilibrium Analysis of Biallelic DNA Markers, Human Quantitative Trait Loci, and Threshold-Defined Case and Control Subjects | 6.5 | 84 | Citations (PDF) |
| 218 | PATTERNS OFGENETICVARIATION INMENDELIAN ANDCOMPLEXTRAITS | 6.6 | 85 | Citations (PDF) |
| 219 | Lack of association between a biallelic polymorphism in the adducin gene and blood pressure in whites and African Americans | 2.0 | 28 | Citations (PDF) |
| 220 | GIST: A web tool for collecting gene information | 2.4 | 11 | Citations (PDF) |
| 221 | Pleiotropic Skeletal and Ocular Phenotypes of the Mouse Mutation Congenital Hydrocephalus (ch/Mf1) Arise from a Winged Helix/Forkhead Transcription Factor Gene | 2.9 | 109 | Citations (PDF) |
| 222 | Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis | 25.2 | 1,056 | Citations (PDF) |
| 223 | Population genetics—making sense out of sequence | 25.2 | 573 | Citations (PDF) |
| 224 | Roger R. Williams, M.D. (1944-1998): Cardiovascular geneticist, physician, and gentle friend | 3.1 | 0 | Citations (PDF) |
| 225 | Trend for an association between schizophrenia and D3S1310, a marker in proximity to the dopamine D3 receptor gene | 0.5 | 14 | Citations (PDF) |
| 226 | Professor Ching Chun Li, Courageous Scholar and Educator | 6.5 | 4 | Citations (PDF) |
| 227 | Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites | 6.5 | 58 | Citations (PDF) |
| 228 | A Radiation Hybrid Map of 48 Loci Including the Clouston Hidrotic Ectodermal Dysplasia Locus in the Pericentromeric Region of Chromosome 13q | 2.8 | 26 | Citations (PDF) |
| 229 | The Sox10Dom Mouse: Modeling the Genetic Variation of Waardenburg-Shah (WS4) Syndrome | 4.6 | 140 | Citations (PDF) |
| 230 | A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation: Table 1. | 4.6 | 797 | Citations (PDF) |
| 231 | Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21 | 25.2 | 513 | Citations (PDF) |
| 232 | An integrated genetic linkage map of the laboratory rat | 2.3 | 92 | Citations (PDF) |
| 233 | HumanGFRA1: Cloning, Mapping, Genomic Structure, and Evaluation as a Candidate Gene for Hirschsprung Disease Susceptibility | 2.8 | 59 | Citations (PDF) |
| 234 | New Goals for the U.S. Human Genome Project: 1998-2003 | 36.3 | 751 | Citations (PDF) |
| 235 | Allele Frequency Distributions in Pooled DNA Samples: Applications to Mapping Complex Disease Genes | 4.6 | 120 | Citations (PDF) |
| 236 | Two Different Connexin 26 Mutations in an Inbred Kindred Segregating Non-Syndromic Recessive Deafness: Implications for Genetic Studies in Isolated Populations | 2.9 | 163 | Citations (PDF) |
| 237 | Cloning of a Novel Homeobox-Containing Gene,PKNOX1,and Mapping to Human Chromosome 21q22.3 | 2.8 | 58 | Citations (PDF) |
| 238 | The effect of intravenous erythromycin on solid meal gastric emptying in patients with chronic symptomatic post-vagotomy-antrectomy gastroparesis | 3.7 | 29 | Citations (PDF) |
| 239 | A Pvull polymorphism detected by a cDNA clone of the gene encoding the human spasmolytic protein (SML1 gene), one of three members of the trefoil peptide gene family clustered on chromosome 21q22.3 | 2.1 | 1 | Citations (PDF) |
| 240 | Age, Sex, and the Familial Risk of Rheumatoid Arthritis | 3.3 | 25 | Citations (PDF) |
| 241 | Cosegregation of familial intestinal pseudoobstruction and presence of digital arches in a large multigenerational pedigree | 2.1 | 5 | Citations (PDF) |
| 242 | Congenital central hypoventilation syndrome: Mutation analysis of the receptor tyrosine kinase RET 1996, 63, 603-609 | | 46 | Citations (PDF) |
| 243 | Segregation analysis of microcephaly 1996, 65, 226-234 | | 6 | Citations (PDF) |
| 244 | Association study of schizophrenia and the dopamine D3 receptor gene locus in two independent samples 1996, 67, 505-514 | | 44 | Citations (PDF) |
| 245 | A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome) | 25.2 | 303 | Citations (PDF) |
| 246 | Endothelin–3 frameshift mutation in congenital central hypoventilation syndrome | 25.2 | 90 | Citations (PDF) |
| 247 | Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient | 25.2 | 278 | Citations (PDF) |
| 248 | Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome | 2.9 | 93 | Citations (PDF) |
| 249 | The End of the Beginning: The Race to Begin Human Genome Sequencing | 4.6 | 14 | Citations (PDF) |
| 250 | Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation | 0.5 | 108 | Citations (PDF) |
| 251 | Association study of schizophrenia and the IL-2 receptor β chain gene | 0.5 | 17 | Citations (PDF) |
| 252 | The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells | 2.9 | 59 | Citations (PDF) |
| 253 | Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease | 2.9 | 239 | Citations (PDF) |
| 254 | Chromosomal Localization of the Mouse Src-like Adapter Protein (Slap) Gene and Its Putative Human Homolog SLA | 2.8 | 13 | Citations (PDF) |
| 255 | Association between the dopamine D3 receptor gene locus and liability to schizophrenia, as well as its age of onset | 2.3 | 1 | Citations (PDF) |
| 256 | Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22 | 2.9 | 244 | Citations (PDF) |
| 257 | Dinucleotide repeat polymorphism within ERCC5 gene | 2.9 | 7 | Citations (PDF) |
| 258 | Highly polymorphic repeat marker within the ?-amyloid precursor protein gene | 2.9 | 2 | Citations (PDF) |
| 259 | Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map | 25.2 | 440 | Citations (PDF) |
| 260 | Association studies in schizophrenia using a dopamine D3 receptor gene polymorphism | 5.4 | 0 | Citations (PDF) |
| 261 | Cytogenetics and origins of pediatric germ cell tumors | 1.2 | 49 | Citations (PDF) |
| 262 | A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's diseaseCell, 1994, 79, 1257-1266 | 33.6 | 906 | Citations (PDF) |
| 263 | Statistical Analysis of Radiation Hybrid Data | 1.4 | 0 | Citations (PDF) |
| 264 | Co-occurrence of schizophrenia and Treacher Collins syndrome | 0.5 | 5 | Citations (PDF) |
| 265 | Association study of schizophrenia with dopamine D3 receptor gene polymorphisms: Probable effects of family history of schizophrenia? | 0.5 | 71 | Citations (PDF) |
| 266 | D21S210: A highly polymorphic (GT)n marker closely linked to the ?-amyloid protein precursor (APP) gene | 2.9 | 8 | Citations (PDF) |
| 267 | A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10 | 25.2 | 156 | Citations (PDF) |
| 268 | DNA Polymorphisms in the 3′ Untranslated Region of Genes on Human Chromosome 21 | 2.8 | 8 | Citations (PDF) |
| 269 | Microsatellite Polymorphism Linkage Map of Human Chromosome 13q | 2.8 | 55 | Citations (PDF) |
| 270 | A Linkage Map of Human Chromosome 21: 43 PCR Markers at Average Intervals of 2.5 cM | 2.8 | 73 | Citations (PDF) |
| 271 | Efficient Construction of High-Resolution Regular Article from Yeast Artificial Chromosomes Using Radiation Hybrids: Inner Product Mapping | 2.8 | 13 | Citations (PDF) |
| 272 | Report of the fourth international workshop on human chromosome 21 | 2.8 | 36 | Citations (PDF) |
| 273 | A somatic cell hybrid map of human chromosome 13 | 2.8 | 6 | Citations (PDF) |
| 274 | Dinucleotide repeat polymorphism at the DXS1146 locus | 2.9 | 2 | Citations (PDF) |
| 275 | Microsatellite repeat polymorphism at the D13S197 locus | 2.9 | 4 | Citations (PDF) |
| 276 | Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11–q13): molecular diagnosis and mechanism of uniparental disomy | 2.9 | 177 | Citations (PDF) |
| 277 | Dinucleotide repeat polymorphisms at the D13S192 and D13S193 loci | 2.9 | 4 | Citations (PDF) |
| 278 | D21S215 is a (GT)n polymorphic marker close to centromeric alphoid sequences on chromosome 21 | 2.8 | 14 | Citations (PDF) |
| 279 | Linkage mapping of the AML1 gene on human chromosome 21 using a DNA polymorphism in the 3′ untranslated region | 2.8 | 5 | Citations (PDF) |
| 280 | An association study of schizophrenia and the porphobilinogen deaminase gene alleles | 2.3 | 0 | Citations (PDF) |
| 281 | Linkage mapping of the carbonyl reductase (CBR) gene on human chromosome 21 using a DNA polymorphism in the 3′ untranslated region | 2.8 | 7 | Citations (PDF) |
| 282 | Schizophrenia and porphobilinogen deaminase gene polymorphisms: an association study | 2.3 | 10 | Citations (PDF) |
| 283 | Dinucleotide repeat (GT)n markers on chromosome 21 | 2.8 | 13 | Citations (PDF) |
| 284 | Cloning and linkage mapping of three polymorphic tetranucleotide (TAAA)n repeats on human chromosome 21 | 2.8 | 6 | Citations (PDF) |
| 285 | Genetics and biology of human ovarian teratomas | 1.2 | 45 | Citations (PDF) |
| 286 | Using multidimensional scaling on data from pairs of relatives to explore the dimensionality of categorical multifactorial traits | 3.1 | 28 | Citations (PDF) |
| 287 | Detection of genetic heterogeneity for complex quantitative phenotypes | 3.1 | 7 | Citations (PDF) |
| 288 | Pedigree analysis of blood pressure in subjects from rural Greece and relatives who migrated to Melbourne, Australia | 3.1 | 13 | Citations (PDF) |
| 289 | Estimation of the frequency of isoform-genotype discrepancies at the apolipoprotein E locus in heterozygotes for the isoforms | 3.1 | 21 | Citations (PDF) |
| 290 | Dietary intake and gene variation influence the response of plasma lipids to dietary intervention | 3.1 | 22 | Citations (PDF) |
| 291 | Elementary methods for the analysis of dichotomous outcomes in unselected samples of Twins | 3.1 | 46 | Citations (PDF) |
| 292 | Segregation analysis of 159 soft tissue sarcoma kindreds: Comparison of fixed and sequential sampling schemes | 3.1 | 15 | Citations (PDF) |
| 293 | Commingling analysis of memory performance in offspring of Alzheimer patients | 3.1 | 12 | Citations (PDF) |
| 294 | Two‐Locus models of disease | 3.1 | 96 | Citations (PDF) |
| 295 | Preliminary ordering of multiple linked loci using pairwise linkage data | 3.1 | 27 | Citations (PDF) |
| 296 | Guidelines for human linkage maps: An international system for human linkage maps (ISLM, 1990) | 2.8 | 67 | Citations (PDF) |
| 297 | A genetic linkage map of 27 markers on human chromosome 21 | 2.8 | 83 | Citations (PDF) |
| 298 | Guidelines for human linkage maps An International System for Human Linkage Maps (ISLM, 1990) | 1.1 | 27 | Citations (PDF) |
| 299 | DNA duplication associated with Charcot-Marie-Tooth disease type 1A | 33.6 | 1,353 | Citations (PDF) |
| 300 | Linkage mapping of highly informative DNA polymorphisms within the human interferon-α receptor gene on chromosome 21 | 2.8 | 35 | Citations (PDF) |
| 301 | A graphical representation of genetic and physical maps: The Marey map | 2.8 | 78 | Citations (PDF) |
| 302 | Genetic linkage map of fishes of the genus Xiphophorus (Teleostei: Poeciliidae). | 4.2 | 62 | Citations (PDF) |
| 303 | A maximum likelihood method for estimating genome length using genetic linkage data. | 4.2 | 388 | Citations (PDF) |
| 304 | Waardenburg syndrome and Hirschsprung disease: Evidence for pleiotropic effects of a single dominant gene | 0.5 | 51 | Citations (PDF) |
| 305 | Phylogeny of human β-globin haplotypes and its implications for recent human evolution | 0.0 | 67 | Citations (PDF) |
| 306 | Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker | 2.8 | 61 | Citations (PDF) |
| 307 | Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat | 2.8 | 28 | Citations (PDF) |
| 308 | Evidence against close linkage of unipolar affective illness to human chromosome 11p markers HRAS1 and INS and chromosome Xq marker DXS52 | 5.4 | 22 | Citations (PDF) |
| 309 | A genetic linkage map of 17 markers on human chromosome 21 | 2.8 | 82 | Citations (PDF) |
| 310 | Estimating the age-at-onset function using life-table methods | 3.1 | 9 | Citations (PDF) |
| 311 | Genetic Diversity within and between Natural Populations of Rattus norvegicus | 2.3 | 10 | Citations (PDF) |
| 312 | Risk of dementia in relatives of patients with Alzheimer's disease | 1.0 | 101 | Citations (PDF) |
| 313 | Linkage analysis of neurofibromatosis. | 3.8 | 3 | Citations (PDF) |
| 314 | Methods for studying recombination on chromosomes that undergo nondisjunction | 2.8 | 48 | Citations (PDF) |
| 315 | Estimation of segregation and ascertainment probabilities by discarding the single probands | 3.1 | 7 | Citations (PDF) |
| 316 | Tests of linkage and heterogeneity in Mendelian diseases using identity by descent scores | 3.1 | 18 | Citations (PDF) |
| 317 | Evidence for increased recombination near the human insulin gene: implication for disease association studies. | 7.5 | 119 | Citations (PDF) |
| 318 | Etiological heterogeneity in Hodgkin's disease: HLA linked and unlinked determinants of susceptibility independent of histological concordance | 3.1 | 26 | Citations (PDF) |
| 319 | A genetic map of human chromosome 11p | 3.1 | 1 | Citations (PDF) |
| 320 | Linkage analysis between Huntington disease and the G8 marker locus | 3.1 | 0 | Citations (PDF) |
| 321 | Reduced Recombination Rate on Chromosomes 21 That Have Undergone Nondisjunction | 1.6 | 20 | Citations (PDF) |
| 322 | HLA antigens and acute rheumatic fever: Evidence for a recessive susceptibility gene linked to HLA | 3.1 | 16 | Citations (PDF) |
| 323 | A linkage map of three anonymous human DNA fragments and SOD-1 on chromosome 21. | 7.3 | 11 | Citations (PDF) |
| 324 | Linkage Map on Chromosome 21q and the Association of a DNA Haplotype with a Propensity to Nondisjunction and Trisomy 21 | 4.0 | 5 | Citations (PDF) |
| 325 | Estimating the prior probability of paternity from the results of exclusion tests | 2.0 | 11 | Citations (PDF) |
| 326 | Aggregation of colon cancer in family data | 3.1 | 14 | Citations (PDF) |
| 327 | A test of nonrandom segregation | 3.1 | 12 | Citations (PDF) |
| 328 | Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster. | 7.5 | 100 | Citations (PDF) |
| 329 | Identity of different mutations for deleterious genes (reply) | 37.9 | 2 | Citations (PDF) |
| 330 | Deletion mapping of polymorphic loci by apparent parental exclusion | 0.5 | 5 | Citations (PDF) |
| 331 | Recombination within and between the human insulin and beta-globin gene loci. | 7.5 | 50 | Citations (PDF) |
| 332 | Evidence for multiple origins of the beta E-globin gene in Southeast Asia. | 7.5 | 116 | Citations (PDF) |
| 333 | Autosomal dominant cone-rod dystrophy: A linkage study with 17 biochemical and serological markers | 0.5 | 4 | Citations (PDF) |
| 334 | Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2. | 7.5 | 43 | Citations (PDF) |
| 335 | Variation in allele frequencies among caste groups of the Dhangars of Maharashtra, India: An analysis with Wright'sFSTstatistic | 1.1 | 19 | Citations (PDF) |
| 336 | Mean and variance of FST in a finite number of incompletely isolated populations | 1.2 | 89 | Citations (PDF) |
| 337 | Drift variances of FSTand GST statistics obtained from a finite number of isolated populations | 1.2 | 94 | Citations (PDF) |
| 338 | Variation in the Number of Ray- and Disc-Florets in Four Species of Compositae 1976, 14, 97-100 | | 2 | Citations (PDF) |
| 339 | Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease | 2.9 | 40 | Citations (PDF) |
| 340 | Joint disruption of
Ret
and
Ednrb
transcription shifts cell fate trajectories in the enteric nervous system in Hirschsprung disease | 7.5 | 1 | Citations (PDF) |