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340 peer-reviewed articles • 50,973 peer-reviewed citations • Sorted by year • Download PDF (PDF by citations)
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1Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variants6.54Citations (PDF)
2Identification of the Molecular Components of Enhancer-Mediated Gene Expression Variation in Multiple Tissues Regulating Blood Pressure
Hypertension, 2024, 81, 1500-1510
6.63Citations (PDF)
3Interleukin-1 Receptor Antagonist Gene (IL1RN) Variants Modulate the Cytokine Release Syndrome and Mortality of COVID-19
Journal of Infectious Diseases, 2024, 229, 1740-1749
3.75Citations (PDF)
4Ret deficiency decreases neural crest progenitor proliferation and restricts fate potential during enteric nervous system development7.532Citations (PDF)
5Cardiac muscle–restricted partial loss of Nos1ap expression has limited but significant impact on electrocardiographic features1.95Citations (PDF)
6Tissue-specific and tissue-agnostic effects of genome sequence variation modulating blood pressure
Cell Reports, 2023, 42, 113351
6.37Citations (PDF)
7RET enhancer haplotype-dependent remodeling of the human fetal gut development program
PLoS Genetics, 2023, 19, e1011030
3.212Citations (PDF)
8Genome‐wide pleiotropy analysis identifies novel blood pressure variants and improves its polygenic risk scores
Genetic Epidemiology, 2022, 46, 105-121
3.118Citations (PDF)
9Interferon pathway lupus risk alleles modulate risk of death from acute COVID-19
Translational Research, 2022, 244, 47-55
4.015Citations (PDF)
10Deborah A. Nickerson (1954 –2021)
Genome Research, 2022, 32, v-vi
4.60Citations (PDF)
11Identifying Needs, Challenges, and Benefits Among Adults and Parents of Children With Hirschsprung Disease2.22Citations (PDF)
12C. Thomas Caskey (1938–2022)
Genome Research, 2022, 32, vii-viii
4.61Citations (PDF)
13Rare coding variants in RCN3 are associated with blood pressure
BMC Genomics, 2022, 23,
3.311Citations (PDF)
14Quality assessment and refinement of chromatin accessibility data using a sequence-based predictive model7.510Citations (PDF)
15Multi-ancestry genome-wide association study accounting for gene-psychosocial factor interactions identifies novel loci for blood pressure traits1.69Citations (PDF)
16Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus
Human Molecular Genetics, 2021, 30, 658-671
2.928Citations (PDF)
17Multiple, independent, common variants at RET, SEMA3 and NRG1 gut enhancers specify Hirschsprung disease risk in European ancestry subjects
Journal of Pediatric Surgery, 2021, 56, 2286-2294
2.06Citations (PDF)
18Sequence-based correction of barcode bias in massively parallel reporter assays
Genome Research, 2021, 31, 1638-1645
4.67Citations (PDF)
19Magnitude of Mendelian versus complex inheritance of rare disorders1.516Citations (PDF)
20A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease
Genome Research, 2021, 31, 2199-2208
4.625Citations (PDF)
21The road ahead in genetics and genomics
Nature Reviews Genetics, 2020, 21, 581-596
46.9179Citations (PDF)
22Analysis of putative cis-regulatory elements regulating blood pressure variation
Human Molecular Genetics, 2020, 29, 1922-1932
2.911Citations (PDF)
23MicroRNA-4516-mediated regulation of MAPK10 relies on 3′ UTR cis-acting variants and contributes to the altered risk of Hirschsprung disease
Journal of Medical Genetics, 2020, 57, 634-642
3.87Citations (PDF)
24A gene regulatory network explains RET–EDNRB epistasis in Hirschsprung disease
Human Molecular Genetics, 2019, 28, 3137-3147
2.939Citations (PDF)
25Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations3.116Citations (PDF)
26Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data
Human Genetics, 2019, 138, 199-210
2.935Citations (PDF)
27Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval7.528Citations (PDF)
28Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease
New England Journal of Medicine, 2019, 380, 1421-1432
34.5180Citations (PDF)
29A multi-ancestry genome-wide study incorporating gene–smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure
Human Molecular Genetics, 2019, 28, 2615-2633
2.945Citations (PDF)
30Gene- and tissue-level interactions in normal gastrointestinal development and Hirschsprung disease7.528Citations (PDF)
31Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits6.5141Citations (PDF)
32Cardiomyocytes have mosaic patterns of protein expression
Cardiovascular Pathology, 2018, 34, 50-57
1.519Citations (PDF)
33Response to Brosens et al
Genetics in Medicine, 2018, 20, 1479-1480
4.20Citations (PDF)
34A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure6.5157Citations (PDF)
35Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus3.030Citations (PDF)
36RET somatic mutations are underrecognized in Hirschsprung disease
Genetics in Medicine, 2018, 20, 770-777
4.226Citations (PDF)
37A comprehensive evaluation of the genetic architecture of sudden cardiac arrest
European Heart Journal, 2018, 39, 3961-3969
2.284Citations (PDF)
38Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits
Nature Genetics, 2018, 50, 1412-1425
25.21,346Citations (PDF)
39Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation
Medicine (United States), 2018, 97, e11865
1.27Citations (PDF)
40The 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
PLoS ONE, 2018, 13, e0200486
2.332Citations (PDF)
41Human cardiac cis -regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants
Genome Research, 2018, 28, 1577-1588
4.632Citations (PDF)
42Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries
PLoS ONE, 2018, 13, e0198166
2.3117Citations (PDF)
43Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q313.05Citations (PDF)
44Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk
Nature Genetics, 2017, 49, 403-415
25.2580Citations (PDF)
45Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Genome Biology, 2017, 18,
8.187Citations (PDF)
46Testing the Ret and Sema3d genetic interaction in mouse enteric nervous system development
Human Molecular Genetics, 2017, 26, 1811-1820
2.911Citations (PDF)
47Gene-by-Psychosocial Factor Interactions Influence Diastolic Blood Pressure in European and African Ancestry Populations: Meta-Analysis of Four Cohort Studies2.97Citations (PDF)
48Rare variants in fox-1 homolog A (RBFOX1) are associated with lower blood pressure
PLoS Genetics, 2017, 13, e1006678
3.220Citations (PDF)
49Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations
PLoS Genetics, 2017, 13, e1006728
3.294Citations (PDF)
50MicroRNAs in the miR-17 and miR-15 families are downregulated in chronic kidney disease with hypertension
PLoS ONE, 2017, 12, e0176734
2.345Citations (PDF)
51Variant Discovery and Fine Mapping of Genetic Loci Associated with Blood Pressure Traits in Hispanics and African Americans
PLoS ONE, 2016, 11, e0164132
2.331Citations (PDF)
52Revealing rate‐limiting steps in complex disease biology: The crucial importance of studying rare, extreme‐phenotype families
BioEssays, 2016, 38, 578-586
2.156Citations (PDF)
53Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease
Cell, 2016, 167, 355-368.e10
33.6147Citations (PDF)
5452 Genetic Loci Influencing Myocardial Mass2.3132Citations (PDF)
55Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci
Nature Genetics, 2016, 48, 1162-1170
25.2264Citations (PDF)
56The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals
Nature Genetics, 2016, 48, 1171-1184
25.2416Citations (PDF)
57Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa3.453Citations (PDF)
58Rare coding TTN variants are associated with electrocardiographic QT interval in the general population3.414Citations (PDF)
59Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk3.848Citations (PDF)
60Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease
Science, 2016, 351, 1166-1171
36.3519Citations (PDF)
61Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation
Nature Genetics, 2016, 49, 54-64
25.2333Citations (PDF)
62The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study
PLoS Genetics, 2015, 11, e1005378
3.2402Citations (PDF)
63Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms
Human Molecular Genetics, 2015, 24, 2997-3003
2.973Citations (PDF)
64Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability6.5130Citations (PDF)
65Intestinal Neuronal Dysplasia-Like Submucosal Ganglion Cell Hyperplasia at the Proximal Margins of Hirschsprung Disease Resections1.125Citations (PDF)
66New genetic loci link adipose and insulin biology to body fat distribution
Nature, 2015, 518, 187-196
37.91,589Citations (PDF)
67Genetic studies of body mass index yield new insights for obesity biology
Nature, 2015, 518, 197-206
37.94,533Citations (PDF)
68Directional dominance on stature and cognition in diverse human populations
Nature, 2015, 523, 459-462
37.9199Citations (PDF)
69The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities6.5628Citations (PDF)
70Loss of δ-catenin function in severe autism
Nature, 2015, 520, 51-56
37.9172Citations (PDF)
71Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns
Human Molecular Genetics, 2015, 24, 5995-6002
2.951Citations (PDF)
72Perspectives on Human Variation through the Lens of Diversity and Race: Figure 1.7.222Citations (PDF)
73Direct Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC)
PLoS ONE, 2015, 10, e0133031
2.356Citations (PDF)
74HPASubC: A suite of tools for user subclassification of human protein atlas tissue images2.314Citations (PDF)
75Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index
PLoS Genetics, 2014, 10, e1004508
3.287Citations (PDF)
76Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease
Journal of Pediatric Surgery, 2014, 49, 1614-1618
2.039Citations (PDF)
77A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder
Human Molecular Genetics, 2014, 23, 6395-6406
2.961Citations (PDF)
78Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci6.5168Citations (PDF)
79Linkage analysis incorporating gene–age interactions identifies seven novel lipid loci: The Family Blood Pressure Program
Atherosclerosis, 2014, 235, 84-93
1.511Citations (PDF)
80Generation of a cre recombinase-conditional Nos1ap over-expression transgenic mouse
Biotechnology Letters, 2014, 36, 1179-1185
1.94Citations (PDF)
81Gene-Age Interactions in Blood Pressure Regulation: A Large-Scale Investigation with the CHARGE, Global BPgen, and ICBP Consortia6.5127Citations (PDF)
82Effects of Long-Term Averaging of Quantitative Blood Pressure Traits on the Detection of Genetic Associations6.581Citations (PDF)
83Defining the role of common variation in the genomic and biological architecture of adult human height
Nature Genetics, 2014, 46, 1173-1186
25.21,982Citations (PDF)
84Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
Nature Genetics, 2014, 46, 826-836
25.2325Citations (PDF)
85Common variation in fatty acid metabolic genes and risk of incident sudden cardiac arrest
Heart Rhythm, 2014, 11, 471-477
2.717Citations (PDF)
86An Enhancer Polymorphism at the Cardiomyocyte Intercalated Disc Protein NOS1AP Locus Is a Major Regulator of the QT Interval6.582Citations (PDF)
87Sequence 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
PLoS ONE, 2014, 9, e109155
2.319Citations (PDF)
88Discovery and refinement of loci associated with lipid levels
Nature Genetics, 2013, 45, 1274-1283
25.23,040Citations (PDF)
89Common variants associated with plasma triglycerides and risk for coronary artery disease
Nature Genetics, 2013, 45, 1345-1352
25.2851Citations (PDF)
90Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model
Developmental Biology, 2013, 382, 320-329
1.9127Citations (PDF)
91Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
Nature Genetics, 2013, 45, 984-994
25.22,286Citations (PDF)
92Loci influencing blood pressure identified using a cardiovascular gene-centric array
Human Molecular Genetics, 2013, 22, 1663-1678
2.9147Citations (PDF)
93Genetics and Genomics for the Prevention and Treatment of Cardiovascular Disease: Update
Circulation, 2013, 128, 2813-2851
18.0121Citations (PDF)
94Associations between NOS1AP Single Nucleotide Polymorphisms (SNPs) and QT Interval Duration in Four Racial/Ethnic Groups in the Multi‐Ethnic Study of Atherosclerosis (MESA)1.013Citations (PDF)
95Trans-Ethnic Fine-Mapping of Lipid Loci Identifies Population-Specific Signals and Allelic Heterogeneity That Increases the Trait Variance Explained
PLoS Genetics, 2013, 9, e1003379
3.2115Citations (PDF)
96Effects of Rare and Common Blood Pressure Gene Variants on Essential Hypertension
Circulation Research, 2013, 112, 318-326
13.126Citations (PDF)
97Genetic variation associated with circulating monocyte count in the eMERGE Network
Human Molecular Genetics, 2013, 22, 2119-2127
2.958Citations (PDF)
98Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease
PLoS ONE, 2013, 8, e62519
2.326Citations (PDF)
99A Polymorphic 3’UTR Element in ATP1B1 Regulates Alternative Polyadenylation and Is Associated with Blood Pressure
PLoS ONE, 2013, 8, e76290
2.319Citations (PDF)
100Defining the Contribution of CNTNAP2 to Autism Susceptibility
PLoS ONE, 2013, 8, e77906
2.333Citations (PDF)
101Next-Generation Sequencing of Human Mitochondrial Reference Genomes Uncovers High Heteroplasmy Frequency
PLoS Computational Biology, 2012, 8, e1002737
3.167Citations (PDF)
102Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease3.010Citations (PDF)
103Meta-analysis identifies six new susceptibility loci for atrial fibrillation
Nature Genetics, 2012, 44, 670-675
25.2590Citations (PDF)
104Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer
Human Mutation, 2012, 33, 281-289
4.533Citations (PDF)
105Quantifying and Modeling Birth Order Effects in Autism
PLoS ONE, 2011, 6, e26418
2.327Citations (PDF)
106SNPs and Other Features as They Predispose to Complex Disease: Genome-Wide Predictive Analysis of a Quantitative Phenotype for Hypertension
PLoS ONE, 2011, 6, e27891
2.35Citations (PDF)
107Mining gold dust under the genome wide significance level: a two‐stage approach to analysis of GWAS
Genetic Epidemiology, 2011, 35, 111-118
3.146Citations (PDF)
108A multilevel model to address batch effects in copy number estimation using SNP arrays
Biostatistics, 2011, 12, 33-50
2.144Citations (PDF)
109Association of Hypertension Drug Target Genes With Blood Pressure and Hypertension in 86 588 Individuals
Hypertension, 2011, 57, 903-910
6.6196Citations (PDF)
110A Bivariate Genome-Wide Approach to Metabolic Syndrome
Diabetes, 2011, 60, 1329-1339
4.2242Citations (PDF)
111Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium
Human Molecular Genetics, 2011, 20, 2285-2295
2.978Citations (PDF)
112Genomic contributions to Mendelian disease
Genome Research, 2011, 21, 643-644
4.618Citations (PDF)
113Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study
Human Molecular Genetics, 2011, 20, 2273-2284
2.9169Citations (PDF)
114Five Blood Pressure Loci Identified by an Updated Genome-Wide Linkage Scan: Meta-Analysis of the Family Blood Pressure Program2.017Citations (PDF)
115Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure
Nature Genetics, 2011, 43, 1005-1011
25.2424Citations (PDF)
116Multiple Loci Are Associated with White Blood Cell Phenotypes
PLoS Genetics, 2011, 7, e1002113
3.2112Citations (PDF)
117Exploring Biologically Relevant Pathways in Frailty3.456Citations (PDF)
118Identification of a Sudden Cardiac Death Susceptibility Locus at 2q24.2 through Genome-Wide Association in European Ancestry Individuals
PLoS Genetics, 2011, 7, e1002158
3.2128Citations (PDF)
119Genome-Wide Association Study of Coronary Heart Disease and Its Risk Factors in 8,090 African Americans: The NHLBI CARe Project
PLoS Genetics, 2011, 7, e1001300
3.2302Citations (PDF)
120Copy Number Variants in Candidate Genes Are Genetic Modifiers of Hirschsprung Disease
PLoS ONE, 2011, 6, e21219
2.358Citations (PDF)
121Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability6.5240Citations (PDF)
122Genome-wide association study of PR interval
Nature Genetics, 2010, 42, 153-159
25.2422Citations (PDF)
123Common variants in KCNN3 are associated with lone atrial fibrillation
Nature Genetics, 2010, 42, 240-244
25.2468Citations (PDF)
124Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction
Nature Genetics, 2010, 42, 1068-1076
25.2342Citations (PDF)
125Mendelian disorders and multifactorial traits: the big divide or one for all?
Nature Reviews Genetics, 2010, 11, 380-384
46.977Citations (PDF)
126Genome-Wide Association Study Identifies GPC5 as a Novel Genetic Locus Protective against Sudden Cardiac Arrest
PLoS ONE, 2010, 5, e9879
2.357Citations (PDF)
127Parent-Of-Origin Effects in Autism Identified through Genome-Wide Linkage Analysis of 16,000 SNPs
PLoS ONE, 2010, 5, e12513
2.334Citations (PDF)
128Polymorphisms in the Mitochondrial DNA Control Region and Frailty in Older Adults
PLoS ONE, 2010, 5, e11069
2.348Citations (PDF)
129Genome-Wide Association Studies of Serum Magnesium, Potassium, and Sodium Concentrations Identify Six Loci Influencing Serum Magnesium Levels
PLoS Genetics, 2010, 6, e1001045
3.2227Citations (PDF)
130Polymorphisms in the NOS1APGene Modulate QT Interval Duration and Risk of Arrhythmias in the Long QT Syndrome2.3170Citations (PDF)
131Multiple Independent Genetic Factors at NOS1AP Modulate the QT Interval in a Multi-Ethnic Population
PLoS ONE, 2009, 4, e4333
2.328Citations (PDF)
132Mitochondrial DNA Variants of Respiratory Complex I that Uniquely Characterize Haplogroup T2 Are Associated with Increased Risk of Age-Related Macular Degeneration
PLoS ONE, 2009, 4, e5508
2.394Citations (PDF)
133Genetic Variations in Nitric Oxide Synthase 1 Adaptor Protein Are Associated With Sudden Cardiac Death in US White Community-Based Populations
Circulation, 2009, 119, 940-951
18.0174Citations (PDF)
134Positional identification of variants of Adamts16 linked to inherited hypertension
Human Molecular Genetics, 2009, 18, 2825-2838
2.960Citations (PDF)
135Whole-genome association study identifies STK39 as a hypertension susceptibility gene7.5291Citations (PDF)
136Hybrids of aneuploid human cancer cells permit complementation of simple and complex cancer defects
Cancer Biology and Therapy, 2009, 8, 347-355
4.13Citations (PDF)
137The Association of Cell Cycle Checkpoint 2 Variants and Kidney Function: Findings of the Family Blood Pressure Program and the Atherosclerosis Risk in Communities Study2.01Citations (PDF)
138Hemostasis, Inflammation, and Fatal and Nonfatal Coronary Heart Disease6.041Citations (PDF)
139Drug-Sensitized Zebrafish Screen Identifies Multiple Genes, Including GINS3 , as Regulators of Myocardial Repolarization
Circulation, 2009, 120, 553-559
18.0111Citations (PDF)
140Understanding cardiovascular disease through the lens of genome-wide association studies
Trends in Genetics, 2009, 25, 387-394
9.872Citations (PDF)
141Interaction between a chromosome 10RETenhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association
Human Mutation, 2009, 30, 771-775
4.562Citations (PDF)
142Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study3.054Citations (PDF)
143A genome-wide linkage and association scan reveals novel loci for autism
Nature, 2009, 461, 802-808
37.9596Citations (PDF)
144Finding the missing heritability of complex diseases
Nature, 2009, 461, 747-753
37.98,172Citations (PDF)
145Common variants at ten loci modulate the QT interval duration in the QTSCD Study
Nature Genetics, 2009, 41, 407-414
25.2379Citations (PDF)
146Genome-wide association study of blood pressure and hypertension
Nature Genetics, 2009, 41, 677-687
25.21,296Citations (PDF)
147Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry
Nature Genetics, 2009, 41, 879-881
25.2382Citations (PDF)
148Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
Nature Genetics, 2009, 41, 1191-1198
25.2343Citations (PDF)
149Diabetes and the risk of sudden cardiac death, the Atherosclerosis Risk in Communities study
Acta Diabetologica, 2009, 47, 161-168
2.272Citations (PDF)
150Association between Microdeletion and Microduplication at 16p11.2 and Autism34.51,625Citations (PDF)
151Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program3.070Citations (PDF)
152Validation and extension of an empirical Bayes method for SNP calling on Affymetrix microarrays
Genome Biology, 2008, 9,
12.230Citations (PDF)
153Genetics of disease3.20Citations (PDF)
154Allele-specific expression in the germline of patients with familial pancreatic cancer: An unbiased approach to cancer gene discovery
Cancer Biology and Therapy, 2008, 7, 135-144
4.144Citations (PDF)
155Estimating Genome-Wide Copy Number Using Allele-Specific Mixture Models1.517Citations (PDF)
156Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture
PLoS Genetics, 2007, 3, e119
3.257Citations (PDF)
157An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertension
Human Molecular Genetics, 2007, 16, 1752-1764
2.932Citations (PDF)
158Multiple Genes for Essential-Hypertension Susceptibility on Chromosome 1q6.5101Citations (PDF)
159Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits
PLoS Genetics, 2007, 3, e115
3.21,554Citations (PDF)
160Genome-wide detection and characterization of positive selection in human populations
Nature, 2007, 449, 913-918
37.92,071Citations (PDF)
161A second generation human haplotype map of over 3.1 million SNPs
Nature, 2007, 449, 851-861
37.94,309Citations (PDF)
162An investigation of genome-wide associations of hypertension with microsatellite markers in the family blood pressure program (FBPP)
Human Genetics, 2007, 121, 577-590
2.926Citations (PDF)
163Human embryonic stem cells have a unique epigenetic signature
Genome Research, 2006, 16, 1075-1083
4.6253Citations (PDF)
164Evidence for a gene influencing heart rate on chromosome 5p13-14 in a meta-analysis of genome-wide scans from the NHLBI Family Blood Pressure Program1.811Citations (PDF)
165A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization
Nature Genetics, 2006, 38, 644-651
25.2520Citations (PDF)
166The impact of data quality on the identification of complex disease genes: experience from the Family Blood Pressure Program3.019Citations (PDF)
167Identifying Allelic Loss and Homozygous Deletions in Pancreatic Cancer without Matched Normals Using High-Density Single-Nucleotide Polymorphism Arrays
Cancer Research, 2006, 66, 7920-7928
3.880Citations (PDF)
168High Incidence of Deafness from Three Frequent Connexin 26 Mutations in an Isolated Community1.512Citations (PDF)
169Genomic alterations in cultured human embryonic stem cells
Nature Genetics, 2005, 37, 1099-1103
25.2607Citations (PDF)
170A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
Nature, 2005, 434, 857-863
37.9454Citations (PDF)
171A Population Association Study of Angiotensinogen Polymorphisms and Haplotypes With Left Ventricular Phenotypes
Hypertension, 2005, 46, 1294-1299
6.617Citations (PDF)
172Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer
Human Molecular Genetics, 2005, 14, 3837-3845
2.977Citations (PDF)
173On the probability that a novel variant is a disease-causing mutation
Genome Research, 2005, 15, 960-966
4.626Citations (PDF)
174Haploinsufficiency of t e lomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita7.5453Citations (PDF)
175Phenotype–genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence7.540Citations (PDF)
176Differential Susceptibility to Hypertension Is Due to Selection during the Out-of-Africa Expansion
PLoS Genetics, 2005, 1, e82
3.2213Citations (PDF)
177Haplotype and Missing Data Inference in Nuclear Families
Genome Research, 2004, 14, 1624-1632
4.643Citations (PDF)
178The Human MitoChip: A High-Throughput Sequencing Microarray for Mitochondrial Mutation Detection
Genome Research, 2004, 14, 812-819
4.6220Citations (PDF)
179Positional Identification of Hypertension Susceptibility Genes on Chromosome 2
Hypertension, 2004, 43, 477-482
6.689Citations (PDF)
180From The Cover: The gene for soluble N-ethylmaleimide sensitive factor attachment protein   is mutated in hydrocephaly with hop gait (hyh) mice7.569Citations (PDF)
181Discrepancies in dbSNP confirmation rates and allele frequency distributions from varying genotyping error rates and patterns
Bioinformatics, 2004, 20, 1022-1032
4.753Citations (PDF)
182Genomics in Sudden Cardiac Death
Circulation Research, 2004, 94, 712-723
13.191Citations (PDF)
183Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies
Nature Genetics, 2004, 36, 1181-1188
25.2155Citations (PDF)
184A trisomic transmission disequilibrium test
Genetic Epidemiology, 2004, 26, 125-131
3.17Citations (PDF)
185Safety issues in cell-based intervention trials
Fertility and Sterility, 2003, 80, 1077-1085
2.976Citations (PDF)
186Undetected Genotyping Errors Cause Apparent Overtransmission of Common Alleles in the Transmission/Disequilibrium Test6.5161Citations (PDF)
187A Genome-Wide Linkage Analysis Investigating the Determinants of Blood Pressure in Whites and African Americans2.061Citations (PDF)
188Development of Human Protein Reference Database as an Initial Platform for Approaching Systems Biology in Humans
Genome Research, 2003, 13, 2363-2371
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189Erythrocyte Sodium-Lithium Countertransport and Blood Pressure
Hypertension, 2003, 41, 842-846
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190Sequence variations in the public human genome data reflect a bottlenecked population history7.5113Citations (PDF)
191Linkage Disequilibrium and Haplotype Diversity in the Genes of the Renin–Angiotensin System: Findings From the Family Blood Pressure Program
Genome Research, 2003, 13, 173-181
4.672Citations (PDF)
192Phenotype variation in two-locus mouse models of Hirschsprung disease: Tissue-specific interaction between Ret and Ednrb7.5145Citations (PDF)
193Associations Between Hypertension and Genes in the Renin-Angiotensin System
Hypertension, 2003, 41, 1027-1034
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194viewGene: A Graphical Tool for Polymorphism Visualization and Characterization
Genome Research, 2002, 12, 333-338
4.616Citations (PDF)
195An Evaluation of the Assembly of an Approximately 15-Mb Region on Human Chromosome 13q32–q33 Linked to Bipolar Disorder and Schizophrenia
Genomics, 2002, 79, 635-658
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196Future of genetics of mood disorders research
Biological Psychiatry, 2002, 52, 457-477
5.4120Citations (PDF)
197Haplotype Inference in Random Population Samples6.5176Citations (PDF)
198Cloning of rat thymic stromal lymphopoietin receptor (TSLPR) and characterization of genomic structure of murine Tslpr gene
Gene, 2002, 284, 161-168
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199Segregation Analysis of Blood Pressure and Body Mass Index in a Rural US Community
Human Biology, 2002, 74, 11-23
0.19Citations (PDF)
200Idiopathic congenital central hypoventilation syndrome: Evaluation of brain-derived neurotrophic factor genomic DNA sequence variation0.566Citations (PDF)
201Chronic constipation due to Hirschsprung's disease and desmosis coli in a family1.310Citations (PDF)
202Segregation at three loci explains familial and population risk in Hirschsprung disease
Nature Genetics, 2002, 31, 89-93
25.2275Citations (PDF)
203Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease
Nature Genetics, 2002, 32, 237-244
25.2272Citations (PDF)
204A BDNF Coding Variant is Associated with the NEO Personality Inventory Domain Neuroticism, a Risk Factor for Depression
Neuropsychopharmacology, 2002, 28, 397-401
5.4327Citations (PDF)
205High anxiety and the Trp460 mutation of the α adducin gene predict higher blood pressure2.00Citations (PDF)
206High-Throughput Variation Detection and Genotyping Using Microarrays
Genome Research, 2001, 11, 1913-1925
4.6259Citations (PDF)
207EDNRB/EDN3 and Hirschsprung Disease Type II0.0100Citations (PDF)
208The winged helix/forkhead transcription factor Foxq1 regulates differentiation of hair in satin mice
Genesis, 2001, 29, 163-171
1.2103Citations (PDF)
209Testing for Colon Neoplasia Susceptibility Variants at the Human COX2 Locus4.615Citations (PDF)
210The Human Genome Sequence Expedition: Views from the "Base Camp"
Genome Research, 2001, 11, 645-651
4.616Citations (PDF)
211Lack of association of the angiotensinogen-6 polymorphism with blood pressure levels in the comprehensive NHLBI Family Blood Pressure Program
Journal of Hypertension, 2000, 18, 867-876
2.146Citations (PDF)
212A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus7.5207Citations (PDF)
213Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: The Lyon repeat hypothesis7.5400Citations (PDF)
214Parallel Genotyping of Human SNPs Using Generic High-density Oligonucleotide Tag Arrays
Genome Research, 2000, 10, 853-860
4.6274Citations (PDF)
215Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21
Genome Research, 2000, 10, 1319-1332
4.648Citations (PDF)
216Parental Origin and Phenotype of Triploidy in Spontaneous Abortions: Predominance of Diandry and Association with the Partial Hydatidiform Mole6.5347Citations (PDF)
217Linkage Disequilibrium Analysis of Biallelic DNA Markers, Human Quantitative Trait Loci, and Threshold-Defined Case and Control Subjects6.584Citations (PDF)
218PATTERNS OFGENETICVARIATION INMENDELIAN ANDCOMPLEXTRAITS6.685Citations (PDF)
219Lack of association between a biallelic polymorphism in the adducin gene and blood pressure in whites and African Americans2.028Citations (PDF)
220GIST: A web tool for collecting gene information
Physiological Genomics, 1999, 1, 75-81
2.411Citations (PDF)
221Pleiotropic Skeletal and Ocular Phenotypes of the Mouse Mutation Congenital Hydrocephalus (ch/Mf1) Arise from a Winged Helix/Forkhead Transcription Factor Gene
Human Molecular Genetics, 1999, 8, 625-637
2.9109Citations (PDF)
222Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis
Nature Genetics, 1999, 22, 239-247
25.21,056Citations (PDF)
223Population genetics—making sense out of sequence
Nature Genetics, 1999, 21, 56-60
25.2573Citations (PDF)
224Roger R. Williams, M.D. (1944-1998): Cardiovascular geneticist, physician, and gentle friend
Genetic Epidemiology, 1999, 16, 1-1
3.10Citations (PDF)
225Trend for an association between schizophrenia and D3S1310, a marker in proximity to the dopamine D3 receptor gene0.514Citations (PDF)
226Professor Ching Chun Li, Courageous Scholar and Educator6.54Citations (PDF)
227Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites6.558Citations (PDF)
228A Radiation Hybrid Map of 48 Loci Including the Clouston Hidrotic Ectodermal Dysplasia Locus in the Pericentromeric Region of Chromosome 13q
Genomics, 1999, 56, 127-130
2.826Citations (PDF)
229The Sox10Dom Mouse: Modeling the Genetic Variation of Waardenburg-Shah (WS4) Syndrome
Genome Research, 1999, 9, 215-225
4.6140Citations (PDF)
230A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation: Table 1.
Genome Research, 1998, 8, 1229-1231
4.6797Citations (PDF)
231Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21
Nature Genetics, 1998, 20, 70-73
25.2513Citations (PDF)
232An integrated genetic linkage map of the laboratory rat
Mammalian Genome, 1998, 9, 521-530
2.392Citations (PDF)
233HumanGFRA1: Cloning, Mapping, Genomic Structure, and Evaluation as a Candidate Gene for Hirschsprung Disease Susceptibility
Genomics, 1998, 48, 354-362
2.859Citations (PDF)
234New Goals for the U.S. Human Genome Project: 1998-2003
Science, 1998, 282, 682-689
36.3751Citations (PDF)
235Allele Frequency Distributions in Pooled DNA Samples: Applications to Mapping Complex Disease Genes
Genome Research, 1998, 8, 111-123
4.6120Citations (PDF)
236Two Different Connexin 26 Mutations in an Inbred Kindred Segregating Non-Syndromic Recessive Deafness: Implications for Genetic Studies in Isolated Populations
Human Molecular Genetics, 1997, 6, 2163-2172
2.9163Citations (PDF)
237Cloning of a Novel Homeobox-Containing Gene,PKNOX1,and Mapping to Human Chromosome 21q22.3
Genomics, 1997, 41, 193-200
2.858Citations (PDF)
238The effect of intravenous erythromycin on solid meal gastric emptying in patients with chronic symptomatic post-vagotomy-antrectomy gastroparesis3.729Citations (PDF)
239A 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
Clinical Genetics, 1997, 52, 247-248
2.11Citations (PDF)
240Age, Sex, and the Familial Risk of Rheumatoid Arthritis3.325Citations (PDF)
241Cosegregation of familial intestinal pseudoobstruction and presence of digital arches in a large multigenerational pedigree
Digestive Diseases and Sciences, 1996, 41, 1429-1433
2.15Citations (PDF)
242Congenital central hypoventilation syndrome: Mutation analysis of the receptor tyrosine kinase RET
1996, 63, 603-609
46Citations (PDF)
243Segregation analysis of microcephaly
1996, 65, 226-234
6Citations (PDF)
244Association study of schizophrenia and the dopamine D3 receptor gene locus in two independent samples
1996, 67, 505-514
44Citations (PDF)
245A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
Nature Genetics, 1996, 12, 445-447
25.2303Citations (PDF)
246Endothelin–3 frameshift mutation in congenital central hypoventilation syndrome
Nature Genetics, 1996, 13, 395-396
25.290Citations (PDF)
247Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient
Nature Genetics, 1996, 14, 341-344
25.2278Citations (PDF)
248Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome
Human Molecular Genetics, 1996, 5, 319-330
2.993Citations (PDF)
249The End of the Beginning: The Race to Begin Human Genome Sequencing
Genome Research, 1996, 6, 771-772
4.614Citations (PDF)
250Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation0.5108Citations (PDF)
251Association study of schizophrenia and the IL-2 receptor β chain gene0.517Citations (PDF)
252The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells
Human Molecular Genetics, 1995, 4, 1193-1199
2.959Citations (PDF)
253Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease
Human Molecular Genetics, 1995, 4, 821-830
2.9239Citations (PDF)
254Chromosomal Localization of the Mouse Src-like Adapter Protein (Slap) Gene and Its Putative Human Homolog SLA
Genomics, 1995, 30, 623-625
2.813Citations (PDF)
255Association between the dopamine D3 receptor gene locus and liability to schizophrenia, as well as its age of onset2.31Citations (PDF)
256Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22
Human Molecular Genetics, 1994, 3, 1217-1225
2.9244Citations (PDF)
257Dinucleotide repeat polymorphism within ERCC5 gene
Human Molecular Genetics, 1994, 3, 214-214
2.97Citations (PDF)
258Highly polymorphic repeat marker within the ?-amyloid precursor protein gene
Human Genetics, 1994, 93,
2.92Citations (PDF)
259Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map
Nature Genetics, 1994, 6, 384-390
25.2440Citations (PDF)
260Association studies in schizophrenia using a dopamine D3 receptor gene polymorphism
Biological Psychiatry, 1994, 35, 669
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261Cytogenetics and origins of pediatric germ cell tumors1.249Citations (PDF)
262A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease
Cell, 1994, 79, 1257-1266
33.6906Citations (PDF)
263Statistical Analysis of Radiation Hybrid Data1.40Citations (PDF)
264Co-occurrence of schizophrenia and Treacher Collins syndrome0.55Citations (PDF)
265Association study of schizophrenia with dopamine D3 receptor gene polymorphisms: Probable effects of family history of schizophrenia?0.571Citations (PDF)
266D21S210: A highly polymorphic (GT)n marker closely linked to the ?-amyloid protein precursor (APP) gene
Human Genetics, 1993, 91,
2.98Citations (PDF)
267A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10
Nature Genetics, 1993, 4, 351-356
25.2156Citations (PDF)
268DNA Polymorphisms in the 3′ Untranslated Region of Genes on Human Chromosome 21
Genomics, 1993, 15, 98-102
2.88Citations (PDF)
269Microsatellite Polymorphism Linkage Map of Human Chromosome 13q
Genomics, 1993, 15, 376-386
2.855Citations (PDF)
270A Linkage Map of Human Chromosome 21: 43 PCR Markers at Average Intervals of 2.5 cM
Genomics, 1993, 16, 562-571
2.873Citations (PDF)
271Efficient Construction of High-Resolution Regular Article from Yeast Artificial Chromosomes Using Radiation Hybrids: Inner Product Mapping
Genomics, 1993, 18, 283-289
2.813Citations (PDF)
272Report of the fourth international workshop on human chromosome 21
Genomics, 1993, 18, 735-745
2.836Citations (PDF)
273A somatic cell hybrid map of human chromosome 13
Genomics, 1993, 18, 486-495
2.86Citations (PDF)
274Dinucleotide repeat polymorphism at the DXS1146 locus
Human Molecular Genetics, 1993, 2, 1078-1078
2.92Citations (PDF)
275Microsatellite repeat polymorphism at the D13S197 locus
Human Molecular Genetics, 1993, 2, 337-337
2.94Citations (PDF)
276Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11–q13): molecular diagnosis and mechanism of uniparental disomy
Human Molecular Genetics, 1993, 2, 143-151
2.9177Citations (PDF)
277Dinucleotide repeat polymorphisms at the D13S192 and D13S193 loci
Human Molecular Genetics, 1993, 2, 86-86
2.94Citations (PDF)
278D21S215 is a (GT)n polymorphic marker close to centromeric alphoid sequences on chromosome 21
Genomics, 1992, 13, 1365-1367
2.814Citations (PDF)
279Linkage mapping of the AML1 gene on human chromosome 21 using a DNA polymorphism in the 3′ untranslated region
Genomics, 1992, 14, 506-507
2.85Citations (PDF)
280An association study of schizophrenia and the porphobilinogen deaminase gene alleles
Schizophrenia Research, 1992, 6, 90-91
2.30Citations (PDF)
281Linkage mapping of the carbonyl reductase (CBR) gene on human chromosome 21 using a DNA polymorphism in the 3′ untranslated region
Genomics, 1992, 13, 447-448
2.87Citations (PDF)
282Schizophrenia and porphobilinogen deaminase gene polymorphisms: an association study
Schizophrenia Research, 1992, 8, 51-58
2.310Citations (PDF)
283Dinucleotide repeat (GT)n markers on chromosome 21
Genomics, 1992, 14, 818-819
2.813Citations (PDF)
284Cloning and linkage mapping of three polymorphic tetranucleotide (TAAA)n repeats on human chromosome 21
Genomics, 1992, 14, 1071-1075
2.86Citations (PDF)
285Genetics and biology of human ovarian teratomas1.245Citations (PDF)
286Using multidimensional scaling on data from pairs of relatives to explore the dimensionality of categorical multifactorial traits
Genetic Epidemiology, 1992, 9, 87-107
3.128Citations (PDF)
287Detection of genetic heterogeneity for complex quantitative phenotypes
Genetic Epidemiology, 1992, 9, 207-223
3.17Citations (PDF)
288Pedigree analysis of blood pressure in subjects from rural Greece and relatives who migrated to Melbourne, Australia
Genetic Epidemiology, 1992, 9, 225-238
3.113Citations (PDF)
289Estimation of the frequency of isoform-genotype discrepancies at the apolipoprotein E locus in heterozygotes for the isoforms
Genetic Epidemiology, 1992, 9, 239-248
3.121Citations (PDF)
290Dietary intake and gene variation influence the response of plasma lipids to dietary intervention
Genetic Epidemiology, 1992, 9, 249-260
3.122Citations (PDF)
291Elementary methods for the analysis of dichotomous outcomes in unselected samples of Twins
Genetic Epidemiology, 1992, 9, 273-287
3.146Citations (PDF)
292Segregation analysis of 159 soft tissue sarcoma kindreds: Comparison of fixed and sequential sampling schemes
Genetic Epidemiology, 1992, 9, 291-304
3.115Citations (PDF)
293Commingling analysis of memory performance in offspring of Alzheimer patients
Genetic Epidemiology, 1992, 9, 333-345
3.112Citations (PDF)
294Two‐Locus models of disease
Genetic Epidemiology, 1992, 9, 347-365
3.196Citations (PDF)
295Preliminary ordering of multiple linked loci using pairwise linkage data
Genetic Epidemiology, 1992, 9, 367-375
3.127Citations (PDF)
296Guidelines for human linkage maps: An international system for human linkage maps (ISLM, 1990)
Genomics, 1991, 9, 557-560
2.867Citations (PDF)
297A genetic linkage map of 27 markers on human chromosome 21
Genomics, 1991, 9, 407-419
2.883Citations (PDF)
298Guidelines for human linkage maps An International System for Human Linkage Maps (ISLM, 1990)1.127Citations (PDF)
299DNA duplication associated with Charcot-Marie-Tooth disease type 1A
Cell, 1991, 66, 219-232
33.61,353Citations (PDF)
300Linkage mapping of highly informative DNA polymorphisms within the human interferon-α receptor gene on chromosome 21
Genomics, 1991, 11, 573-576
2.835Citations (PDF)
301A graphical representation of genetic and physical maps: The Marey map
Genomics, 1991, 11, 219-222
2.878Citations (PDF)
302Genetic linkage map of fishes of the genus Xiphophorus (Teleostei: Poeciliidae).
Genetics, 1991, 127, 399-410
4.262Citations (PDF)
303A maximum likelihood method for estimating genome length using genetic linkage data.
Genetics, 1991, 128, 175-182
4.2388Citations (PDF)
304Waardenburg syndrome and Hirschsprung disease: Evidence for pleiotropic effects of a single dominant gene0.551Citations (PDF)
305Phylogeny of human β-globin haplotypes and its implications for recent human evolution0.067Citations (PDF)
306Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker
Genomics, 1990, 7, 136-138
2.861Citations (PDF)
307Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat
Genomics, 1990, 8, 400-402
2.828Citations (PDF)
308Evidence against close linkage of unipolar affective illness to human chromosome 11p markers HRAS1 and INS and chromosome Xq marker DXS52
Biological Psychiatry, 1990, 28, 63-72
5.422Citations (PDF)
309A genetic linkage map of 17 markers on human chromosome 21
Genomics, 1989, 4, 579-591
2.882Citations (PDF)
310Estimating the age-at-onset function using life-table methods
Genetic Epidemiology, 1988, 5, 255-263
3.19Citations (PDF)
311Genetic Diversity within and between Natural Populations of Rattus norvegicus
Journal of Heredity, 1988, 79, 319-324
2.310Citations (PDF)
312Risk of dementia in relatives of patients with Alzheimer's disease
Neurology, 1988, 38, 786-786
1.0101Citations (PDF)
313Linkage analysis of neurofibromatosis.
Journal of Medical Genetics, 1987, 24, 526-527
3.83Citations (PDF)
314Methods for studying recombination on chromosomes that undergo nondisjunction
Genomics, 1987, 1, 35-42
2.848Citations (PDF)
315Estimation of segregation and ascertainment probabilities by discarding the single probands
Genetic Epidemiology, 1987, 4, 185-191
3.17Citations (PDF)
316Tests of linkage and heterogeneity in Mendelian diseases using identity by descent scores
Genetic Epidemiology, 1987, 4, 255-266
3.118Citations (PDF)
317Evidence for increased recombination near the human insulin gene: implication for disease association studies.7.5119Citations (PDF)
318Etiological heterogeneity in Hodgkin's disease: HLA linked and unlinked determinants of susceptibility independent of histological concordance
Genetic Epidemiology, 1986, 3, 407-415
3.126Citations (PDF)
319A genetic map of human chromosome 11p
Genetic Epidemiology, 1986, 3, 135-140
3.11Citations (PDF)
320Linkage analysis between Huntington disease and the G8 marker locus
Genetic Epidemiology, 1986, 3, 211-216
3.10Citations (PDF)
321Reduced Recombination Rate on Chromosomes 21 That Have Undergone Nondisjunction1.620Citations (PDF)
322HLA antigens and acute rheumatic fever: Evidence for a recessive susceptibility gene linked to HLA
Genetic Epidemiology, 1985, 2, 273-282
3.116Citations (PDF)
323A linkage map of three anonymous human DNA fragments and SOD-1 on chromosome 21.
EMBO Journal, 1985, 4, 2257-2260
7.311Citations (PDF)
324Linkage Map on Chromosome 21q and the Association of a DNA Haplotype with a Propensity to Nondisjunction and Trisomy 214.05Citations (PDF)
325Estimating the prior probability of paternity from the results of exclusion tests2.011Citations (PDF)
326Aggregation of colon cancer in family data
Genetic Epidemiology, 1984, 1, 53-61
3.114Citations (PDF)
327A test of nonrandom segregation
Genetic Epidemiology, 1984, 1, 329-340
3.112Citations (PDF)
328Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster.7.5100Citations (PDF)
329Identity of different mutations for deleterious genes (reply)
Nature, 1983, 301, 176-177
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330Deletion mapping of polymorphic loci by apparent parental exclusion0.55Citations (PDF)
331Recombination within and between the human insulin and beta-globin gene loci.7.550Citations (PDF)
332Evidence for multiple origins of the beta E-globin gene in Southeast Asia.7.5116Citations (PDF)
333Autosomal dominant cone-rod dystrophy: A linkage study with 17 biochemical and serological markers0.54Citations (PDF)
334Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2.7.543Citations (PDF)
335Variation in allele frequencies among caste groups of the Dhangars of Maharashtra, India: An analysis with Wright'sFSTstatistic
Annals of Human Biology, 1977, 4, 275-280
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336Mean and variance of FST in a finite number of incompletely isolated populations1.289Citations (PDF)
337Drift variances of FSTand GST statistics obtained from a finite number of isolated populations1.294Citations (PDF)
338Variation in the Number of Ray- and Disc-Florets in Four Species of Compositae
1976, 14, 97-100
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339Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease2.940Citations (PDF)
340Joint disruption of Ret and Ednrb transcription shifts cell fate trajectories in the enteric nervous system in Hirschsprung disease7.51Citations (PDF)