Aravinda Chakravarti

Aravinda Chakravarti's AcademicInfluence.com Rankings

Biology

#2333

World Rank

#3719

Historical Rank

#1051

USA Rank

Genetics

#232

World Rank

#279

Historical Rank

#120

USA Rank

biology Degrees

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Biology

Aravinda Chakravarti's Degrees

Bachelors Zoology University of Calcutta

Why Is Aravinda Chakravarti Influential?

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According to Wikipedia, Aravinda Chakravarti is a human geneticist and expert in computational biology, and Director of the Center For Human Genetics & Genomics at New York University. He was the 2008 President of the American Society of Human Genetics. Chakravarti became a co-Editor-in-Chief of the journal Genome Research in 1995, and of the Annual Review of Genomics and Human Genetics' in 2005.

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Aravinda Chakravarti's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

A global reference for human genetic variation (2015) (11857)
Finding the missing heritability of complex diseases (2009) (7749)
An integrated map of genetic variation from 1,092 human genomes (2012) (7565)
A second generation human haplotype map of over 3.1 million SNPs (2007) (4567)
Genetic studies of body mass index yield new insights for obesity biology (2015) (3549)
Erratum: Identification of the Cystic Fibrosis Gene: Genetic Analysis (1989) (2735)
Discovery and Refinement of Loci Associated with Lipid Levels (2013) (2475)
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs (2013) (2011)
Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk (2011) (1928)
Defining the role of common variation in the genomic and biological architecture of adult human height (2014) (1805)
Identification of the cystic fibrosis gene: genetic analysis. (1989) (1687)
Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits (2007) (1641)
Genome-wide association study of blood pressure and hypertension (2009) (1371)
Association between microdeletion and microduplication at 16p11.2 and autism. (2008) (1338)
DNA duplication associated with Charcot-Marie-Tooth disease type 1A (1991) (1312)
New genetic loci link adipose and insulin biology to body fat distribution (2014) (1227)
Development of human protein reference database as an initial platform for approaching systems biology in humans. (2003) (1122)
Variations on a Theme: Cataloging Human DNA Sequence Variation (1997) (1092)
Hirschsprung disease, associated syndromes and genetics: a review (2001) (1044)
Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis (1999) (1011)
A DNA polymorphism discovery resource for research on human genetic variation. (1998) (869)
A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease (1994) (866)
New goals for the U.S. Human Genome Project: 1998-2003. (1998) (838)
Common variants associated with plasma triglycerides and risk for coronary artery disease (2013) (767)
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries (2018) (735)
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways (2015) (676)
Comparative analyses of multi-species sequences from targeted genomic regions (2003) (666)
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (659)
Genomic alterations in cultured human embryonic stem cells (2005) (636)
Population genetics—making sense out of sequence (1999) (627)
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. (2008) (596)
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. (2015) (552)
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21 (1998) (550)
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization (2006) (537)
Meta-analysis identifies six new susceptibility loci for atrial fibrillation (2012) (535)
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study (2015) (532)
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. (2005) (462)
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk (2005) (457)
Common Variants in KCNN3 are Associated with Lone Atrial Fibrillation (2010) (454)
Genome-wide association study of PR interval (2010) (432)
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk (2017) (428)
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure (2011) (424)
A genetic study of Hirschsprung disease. (1990) (420)
Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map (1994) (407)
Common variants at ten loci modulate the QT interval duration in the QTSCD Study (2009) (401)
A maximum likelihood method for estimating genome length using genetic linkage data. (1991) (400)
Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: the Lyon repeat hypothesis. (2000) (390)
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function (2016) (388)
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry (2009) (382)
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium (2009) (369)
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals (2016) (347)
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction (2010) (345)
A BDNF Coding Variant is Associated with the NEO Personality Inventory Domain Neuroticism, a Risk Factor for Depression (2003) (343)
Genome-Wide Association Study of Coronary Heart Disease and Its Risk Factors in 8,090 African Americans: The NHLBI CARe Project (2011) (325)
Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays. (2000) (317)
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome) (1996) (307)
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia (2017) (301)
Whole-genome association study identifies STK39 as a hypertension susceptibility gene (2009) (300)
Nonuniform recombination within the human beta-globin gene cluster. (1984) (299)
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease (2002) (291)
High-throughput variation detection and genotyping using microarrays. (2001) (291)
Human embryonic stem cells have a unique epigenetic signature. (2006) (282)
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient (1996) (280)
Similarity of DNA fingerprints due to chance and relatedness. (1993) (274)
Segregation at three loci explains familial and population risk in Hirschsprung disease (2002) (265)
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization (2014) (260)
The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection. (2004) (249)
Differential Susceptibility to Hypertension Is Due to Selection during the Out-of-Africa Expansion (2005) (248)
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. (1995) (244)
Parental origin and phenotype of triploidy in spontaneous abortions: predominance of diandry and association with the partial hydatidiform mole. (2000) (244)
A Bivariate Genome-Wide Approach to Metabolic Syndrome (2011) (235)
Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation (2016) (233)
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. (2010) (232)
Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci (2016) (214)
Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder (2015) (206)
Multi-center genetic study of hypertension: The Family Blood Pressure Program (FBPP). (2002) (202)
A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. (2000) (201)
Single nucleotide polymorphisms: . . .to a future of genetic medicine (2001) (199)
Haplotype inference in random population samples. (2002) (196)
Genetic Variations in Nitric Oxide Synthase 1 Adaptor Protein Are Associated With Sudden Cardiac Death in US White Community-Based Populations (2009) (193)
Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study (2011) (185)
Genome-Wide Association Studies of Serum Magnesium, Potassium, and Sodium Concentrations Identify Six Loci Influencing Serum Magnesium Levels (2010) (185)
Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. (1995) (184)
Global implementation of genomic medicine: We are not alone (2015) (183)
Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. (1987) (181)
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. (1997) (180)
Endothelin receptor-mediated signaling in hirschsprung disease. (1996) (180)
Association of Hypertension Drug Target Genes With Blood Pressure and Hypertension in 86 588 Individuals (2011) (178)
Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test. (2003) (178)
Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. (2013) (176)
Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies (2004) (168)
Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome. (2010) (164)
Nature, nurture and human disease (2003) (160)
Genetics and biology of human ovarian teratomas. I. Cytogenetic analysis and mechanism of origin. (1990) (160)
The Genome Project-Write (2016) (158)
A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10 (1993) (154)
Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. (2014) (150)
The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. (1999) (149)
It's raining SNPs, hallelujah? (1998) (146)
Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations (2017) (145)
Loci influencing blood pressure identified using a cardiovascular gene-centric array. (2013) (145)
Directional dominance on stature and cognition in diverse human populations (2015) (144)
Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis. (2006) (143)
Identification of a Sudden Cardiac Death Susceptibility Locus at 2q24.2 through Genome-Wide Association in European Ancestry Individuals (2011) (141)
Phenotype variation in two-locus mouse models of Hirschsprung disease: Tissue-specific interaction between Ret and Ednrb (2003) (140)
Genetic epidemiology of rheumatoid arthritis. (1995) (138)
Erratum: A DNA polymorphism discovery resource for research on human genetic variation (Genome Research (1998) 8 (1229-1231)) (1999) (137)
Future of genetics of mood disorders research (2002) (131)
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model. (2013) (130)
Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM (2011) (127)
Associations Between Hypertension and Genes in the Renin-Angiotensin System (2003) (125)
Polymorphic DNA haplotypes at the LDL receptor locus. (1989) (123)
Multiple Loci Are Associated with White Blood Cell Phenotypes (2011) (123)
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney (2017) (121)
Sequence variations in the public human genome data reflect a bottlenecked population history (2002) (120)
Drug-Sensitized Zebrafish Screen Identifies Multiple Genes, Including GINS3, as Regulators of Myocardial Repolarization (2009) (118)
Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes. (1998) (117)
Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability. (2015) (117)
Trans-Ethnic Fine-Mapping of Lipid Loci Identifies Population-Specific Signals and Allelic Heterogeneity That Increases the Trait Variance Explained (2013) (116)
Multiple genes for essential-hypertension susceptibility on chromosome 1q. (2007) (114)
Evidence for increased recombination near the human insulin gene: implication for disease association studies. (1986) (114)
Loss of delta catenin function in severe autism (2015) (113)
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. (2014) (110)
The winged helix/forkhead transcription factor Foxq1 regulates differentiation of hair in satin mice (2001) (110)
Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3. (1996) (109)
Two‐Locus models of disease (1992) (109)
EDNRB/EDN3 and Hirschsprung disease type II. (2001) (108)
Risk of dementia in relatives of patients with Alzheimer's disease (1988) (108)
Cutaneous malignant melanoma and familial dysplastic nevi: evidence for autosomal dominance and pleiotropy. (1986) (107)
Erratum: Automated construction of genetic linkage maps using an expert system (MultiMap): A human genome linkage map (Nature Genetics (1994) 6 (384- 390)) (1994) (107)
Positional Identification of Hypertension Susceptibility Genes on Chromosome 2 (2004) (103)
Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease (2016) (103)
A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. (2018) (100)
Mitochondrial DNA Variants of Respiratory Complex I that Uniquely Characterize Haplogroup T2 Are Associated with Increased Risk of Age-Related Macular Degeneration (2009) (99)
Genomics in sudden cardiac death. (2004) (99)
52 Genetic Loci Influencing Myocardial Mass. (2016) (98)
An integrated genetic linkage map of the laboratory rat (1998) (97)
Endothelin–3 frameshift mutation in congenital central hypoventilation syndrome (1996) (96)
Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association. (2013) (95)
Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease (2019) (95)
Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster. (1984) (94)
Drift variances of FST and GST statistics obtained from a finite number of isolated populations. (1977) (93)
Patterns of genetic variation in Mendelian and complex traits. (2000) (92)
Evidence for multiple origins of the beta E-globin gene in Southeast Asia. (1982) (91)
Linkage disequilibrium analysis of biallelic DNA markers, human quantitative trait loci, and threshold-defined case and control subjects. (2000) (88)
The road ahead in genetics and genomics (2020) (88)
Identifying allelic loss and homozygous deletions in pancreatic cancer without matched normals using high-density single-nucleotide polymorphism arrays. (2006) (88)
Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer. (2005) (88)
Finding the missing heritability of complex (2009) (87)
Associations between Genetic Variants in the NOS1AP (CAPON) Gene and Cardiac Repolarization in the Old Order Amish (2007) (87)
Mean and variance of FST in a finite number of incompletely isolated populations. (1977) (86)
Linkage disequilibrium and haplotype diversity in the genes of the renin-angiotensin system: findings from the family blood pressure program. (2003) (84)
Statement from the National Institutes of Health workshop on population screening for the cystic fibrosis gene. (1990) (84)
Multipoint gene mapping using seriation. I. General methods. (1987) (83)
Understanding cardiovascular disease through the lens of genome-wide association studies. (2009) (81)
Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium. (2011) (80)
Causal Effect of Plasminogen Activator Inhibitor Type 1 on Coronary Heart Disease (2017) (78)
Genetics and biology of human ovarian teratomas. III. Cytogenetics and origins of malignant ovarian germ cell tumors. (1992) (78)
Association study of schizophrenia with dopamine D3 receptor gene polymorphisms: probable effects of family history of schizophrenia? (1993) (78)
Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits. (2019) (77)
A genetic linkage map of 27 markers on human chromosome 21. (1991) (77)
Diabetes and the risk of sudden cardiac death, the Atherosclerosis Risk in Communities study (2010) (75)
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. (1990) (75)
Mendelian disorders and multifactorial traits: the big divide or one for all? (2010) (74)
Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation. (1995) (74)
A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM. (1993) (74)
Genome-Wide Association Study Identifies GPC5 as a Novel Genetic Locus Protective against Sudden Cardiac Arrest (2010) (73)
Next-Generation Sequencing of Human Mitochondrial Reference Genomes Uncovers High Heteroplasmy Frequency (2012) (72)
Safety issues in cell-based intervention trials. (2003) (72)
Polymorphisms in the Mitochondrial DNA Control Region and Frailty in Older Adults (2010) (72)
Phylogeny of human beta-globin haplotypes and its implications for recent human evolution. (1990) (71)
Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program (2008) (70)
Positional identification of variants of Adamts16 linked to inherited hypertension (2009) (70)
Public stem cell banks: considerations of justice in stem cell research and therapy. (2003) (70)
Distilling Pathophysiology from Complex Disease Genetics (2013) (70)
Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index (2014) (69)
A genome-wide linkage analysis investigating the determinants of blood pressure in whites and African Americans. (2003) (68)
An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval. (2014) (67)
The gene for soluble N-ethylmaleimide sensitive factor attachment protein alpha is mutated in hydrocephaly with hop gait (hyh) mice. (2004) (67)
Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture (2007) (66)
IL-6 gene variation is not associated with increased serum levels of IL-6, muscle, weakness, or frailty in older women (2005) (66)
Copy Number Variants in Candidate Genes Are Genetic Modifiers of Hirschsprung Disease (2011) (65)
Lack of association of the angiotensinogen‐6 polymorphism with blood pressure levels in the comprehensive NHLBI Family Blood Pressure Program (2000) (65)
Effects of long-term averaging of quantitative blood pressure traits on the detection of genetic associations. (2014) (64)
Microsatellite polymorphism linkage map of human chromosome 13q. (1993) (63)
A genetic linkage map of 17 markers on human chromosome 21. (1989) (63)
Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation. (2002) (63)
Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms. (2015) (62)
Genetic linkage map of fishes of the genus Xiphophorus (Teleostei: Poeciliidae). (1991) (62)
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes (2017) (61)
Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome. (1992) (61)
A genome-wide scan for obesity in African-Americans. (2002) (60)
The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells. (1995) (59)
Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker. (1990) (59)
Genetic variation associated with circulating monocyte count in the eMERGE Network. (2013) (59)
Mining gold dust under the genome wide significance level: a two‐stage approach to analysis of GWAS (2011) (59)
Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility. (1998) (59)
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. (1999) (59)
Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study (2009) (58)
Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome–Hirschsprung disease association (2009) (57)
Guidelines for human linkage maps An International System for Human Linkage Maps (ISLM, 1990) (1991) (56)
Discrepancies in dbSNP confirmation rates and allele frequency distributions from varying genotyping error rates and patterns (2004) (56)
Haplotype and missing data inference in nuclear families. (2004) (56)
Human population genetics : the Pittsburgh symposium (1984) (55)
Parent-Of-Origin Effects in Autism Identified through Genome-Wide Linkage Analysis of 16,000 SNPs (2010) (54)
A graphical representation of genetic and physical maps: the Marey map. (1991) (54)
Polymorphisms in the NOS 1 AP Gene Modulate QT Interval Duration and Risk of Arrhythmias in the Long QT Syndrome (53)
Genetics and biology of human ovarian teratomas. II. Molecular analysis of origin of nondisjunction and gene-centromere mapping of chromosome I markers. (1990) (53)
Exploring biologically relevant pathways in frailty. (2011) (53)
Patterns of meiotic recombination on the long arm of human chromosome 21. (2000) (53)
Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3. (1997) (53)
Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults. (2014) (52)
Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET. (1996) (51)
Association study of schizophrenia and the dopamine D3 receptor gene locus in two independent samples. (1996) (50)
A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest (2017) (49)
Loss of d-catenin function in severe autism (2015) (47)
Guidelines for human linkage maps: an international system for human linkage maps (ISLM, 1990). (1991) (47)
A multilevel model to address batch effects in copy number estimation using SNP arrays. (2011) (47)
Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2. (1980) (46)
Fragile X founder effect? (1992) (46)
Elevated frequency of Tay-Sachs disease among Ashkenazic Jews unlikely by genetic drift alone. (1978) (45)
Allele-specific expression in the germline of patients with familial pancreatic cancer: An unbiased approach to cancer gene discovery (2008) (45)
Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa (2016) (45)
No evidence for association to the G72/G30 locus in an independent sample of schizophrenia families (2005) (45)
Revealing rate‐limiting steps in complex disease biology: The crucial importance of studying rare, extreme‐phenotype families (2016) (44)
Hemostasis, Inflammation, and Fatal and Nonfatal Coronary Heart Disease: Long-Term Follow-Up of the Atherosclerosis Risk in Communities (ARIC) Cohort (2009) (44)
Genomics Is Not Enough (2011) (44)
Elementary methods for the analysis of dichotomous outcomes in unselected samples of Twins (1992) (44)
A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination. (1995) (43)
Methods for studying recombination on chromosomes that undergo nondisjunction. (1987) (43)
Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene. (1990) (42)
Rapid and efficient human mutation detection using a bench‐top next‐generation DNA sequencer (2012) (42)
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk (2016) (42)
Cytogenetics and origins of pediatric germ cell tumors. (1994) (42)
Recombination within and between the human insulin and beta-globin gene loci. (1983) (41)
A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder (2014) (41)
Validation and extension of an empirical Bayes method for SNP calling on Affymetrix microarrays (2008) (41)
The Fate of 12 Recessive Mutations in A Single Village (2007) (41)
Direct Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC) (2015) (39)
Defining the Contribution of CNTNAP2 to Autism Susceptibility (2013) (38)
Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence. (2005) (38)
Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study (2016) (37)
Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids. (1990) (37)
Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease. (2014) (37)
Multiple Independent Genetic Factors at NOS1AP Modulate the QT Interval in a Multi-Ethnic Population (2009) (37)
Transcobalamin-II variants, decreased vitamin B12 availability and increased risk of frailty (2009) (37)
A compelling genetic hypothesis for a complex disease: PRODH2/DGCR6 variation leads to schizophrenia susceptibility (2002) (37)
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. (2016) (36)
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns. (2015) (36)
On consanguineous marriages and the genetic load (2004) (35)
Gene differentiation among the Dhangar caste-cluster of Maharashtra, India. (1978) (34)
Variation in the Ciliary Neurotrophic Factor Gene and Muscle Strength in Older Caucasian Women (2006) (34)
A strategy for using multiple linked markers for genetic counseling. (1985) (33)
Quantifying and Modeling Birth Order Effects in Autism (2011) (32)
Gene-centromere mapping and the study of non-disjunction in autosomal trisomies and ovarian teratomas. (1989) (32)
Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat. (1990) (32)
Report of the Fourth International Workshop on Human Chromosome 21. (1993) (31)
Age, sex, and the familial risk of rheumatoid arthritis. (1996) (31)
MicroRNAs in the miR-17 and miR-15 families are downregulated in chronic kidney disease with hypertension (2017) (30)
Preliminary ordering of multiple linked loci using pairwise linkage data (1992) (30)
On the probability that a novel variant is a disease-causing mutation. (2005) (29)
Lack of association between a biallelic polymorphism in the adducin gene and blood pressure in whites and African Americans. (2000) (29)
Genomic variation in multigenic traits: Hirschsprung disease. (2003) (29)
Dietary intake and gene variation influence the response of plasma lipids to dietary intervention (1992) (29)
A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure. (2019) (28)
Haplotype Association Analysis of AGT Variants with Hypertension-Related Traits: The HyperGEN Study (2005) (28)
Linkage mapping of highly informative DNA polymorphisms within the human interferon-alpha receptor gene on chromosome 21. (1991) (28)
Using multidimensional scaling on data from pairs of relatives to explore the dimensionality of categorical multifactorial traits (1992) (28)
A PIGN mutation responsible for multiple congenital anomalies–hypotonia–seizures syndrome 1 (MCAHS1) in an Israeli–Arab family (2016) (27)
Estimation of the frequency of isoform–genotype discrepancies at the apolipoprotein E locus in heterozygotes for the isoforms (1992) (27)
An ancestral variant of Secretogranin II confers regulation by PHOX2 transcription factors and association with hypertension. (2007) (26)
The human genome sequence expedition: views from the "base camp". (2001) (26)
Etiological heterogeneity in Hodgkin's disease: HLA linked and unlinked determinants of susceptibility independent of histological concordance (1986) (26)
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease (2013) (26)
A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD). (1993) (26)
Variant Discovery and Fine Mapping of Genetic Loci Associated with Blood Pressure Traits in Hispanics and African Americans (2016) (26)
Effects of Rare and Common Blood Pressure Gene Variants on Essential Hypertension: Results From the Family Blood Pressure Program, CLUE, and Atherosclerosis Risk in Communities Studies (2013) (25)
Variation in allele frequencies among caste groups of the Dhangars of Maharashtra, India: an analysis with Wright's Fst statistic. (1977) (25)
An investigation of genome-wide associations of hypertension with microsatellite markers in the family blood pressure program (FBPP) (2007) (25)
Two sequence-ready contigs spanning the two copies of a 200-kb duplication on human 21q: partial sequence and polymorphisms. (1998) (24)
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 (2018) (24)
Estimation of the marker gene frequency and linkage disequilibrium from conditional marker data. (1984) (24)
Identifying disease alleles by genome sharing (1999) (24)
Erythrocyte Sodium-Lithium Countertransport and Blood Pressure: A Genome-Wide Linkage Study (2003) (24)
Testing for colon neoplasia susceptibility variants at the human COX2 locus. (2001) (23)
Genomic structure of the gene for the SH2 and pleckstrin homology domain-containing protein GRB10 and evaluation of its role in Hirschsprung disease (1998) (23)
DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster (1988) (23)
Inheritance pattern of platelet membrane fluidity in Alzheimer disease. (1989) (22)
Multipoint gene mapping using seriation. II. Analysis of simulated and empirical data. (1987) (22)
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 (2014) (22)
Estimating Genome-Wide Copy Number Using Allele-Specific Mixture Models (2008) (22)
Detection of tandem duplications and implications for linkage analysis. (1994) (22)
Reduced recombination rate on chromosomes 21 that have undergone nondisjunction. (1986) (22)
Human genetics: Tracing India's invisible threads (2009) (21)
A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q. (1999) (21)
Genomic contributions to Mendelian disease. (2011) (21)
Five blood pressure loci identified by an updated genome-wide linkage scan: meta-analysis of the Family Blood Pressure Program. (2010) (20)
Pathways systematically associated to Hirschsprung’s disease (2013) (20)
Evidence against close linkage of unipolar affective illness to human chromosome 11p markers HRAS1 and INS and chromosome Xq marker DXS52 (1990) (19)
Linkage and sib-pair analysis reveal a potential schizophrenia susceptibility gene on chromosome 13q32: (1996) (19)
Being Human: Kinship: Race relations (2009) (19)
D21S215 is a (GT)n polymorphic marker close to centromeric alphoid sequences on chromosome 21. (1992) (19)
Methodology in medical genetics: An introduction to statistical methods (1988) (19)
RET somatic mutations are underrecognized in Hirschsprung disease (2018) (19)
Tests of linkage and heterogeneity in Mendelian diseases using identity by descent scores (1987) (18)
An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and schizophrenia. (2002) (18)
Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval (2019) (18)
Copy number polymorphisms near SLC2A9 are associated with serum uric acid concentrations (2014) (18)
The probability of detecting the origin of nondisjunction of autosomal trisomies. (1989) (18)
Association study of schizophrenia and the IL-2 receptor β chain gene (1995) (18)
Correction: Corrigendum: Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk (2017) (18)
HLA antigens and acute rheumatic fever: Evidence for a recessive susceptibility gene linked to HLA (1985) (18)
Utility and efficiency of linked marker genes for genetic counseling. II. Identification of linkage phase by offspring phenotypes. (1982) (18)
ViewGene: a graphical tool for polymorphism visualization and characterization. (2002) (18)
Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus (2018) (18)
Perspectives on Human Variation through the Lens of Diversity and Race. (2015) (18)
NOS1AP variant associated with incidence of type 2 diabetes in calcium channel blocker users in the Atherosclerosis Risk in Communities (ARIC) study (2010) (18)
MultiMap: An Expert System for Automated Genetic Linkage Mapping (1993) (17)
A Population Association Study of Angiotensinogen Polymorphisms and Haplotypes With Left Ventricular Phenotypes (2005) (17)
Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (17)
Utility and efficiency of linked marker genes for genetic counseling. III. Proportion of informative families under linkage disequilibrium. (1983) (17)
A theory for radiation hybrid (Goss-Harris) mapping: application to proximal 21q markers. (1992) (17)
Pairwise linkage analysis of 11 loci on human chromosome 4. (1988) (17)
Common variation in fatty acid metabolic genes and risk of incident sudden cardiac arrest. (2014) (17)
Rare coding variants associated with blood pressure variation in 15 914 individuals of African ancestry (2017) (16)
The CD4/CD8 ratio: Message in a bottle? (1995) (16)
Pedigree analysis of blood pressure in subjects from rural Greece and relatives who migrated to Melbourne, Australia (1992) (16)
Mendelian Puzzles (2012) (16)
Commingling analysis of memory performance in offspring of Alzheimer patients (1992) (16)
Aggregation of colon cancer in family data (1984) (16)
Rare variants in fox-1 homolog A (RBFOX1) are associated with lower blood pressure (2017) (16)
Basic fallacies in the formulation of the paternity index. (1985) (16)
Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants (2018) (16)
Generalization and fine mapping of European ancestry-based central adiposity variants in African ancestry populations (2016) (15)
Intestinal Neuronal Dysplasia-Like Submucosal Ganglion Cell Hyperplasia at the Proximal Margins of Hirschsprung Disease Resections (2015) (15)
HPASubC: A suite of tools for user subclassification of human protein atlas tissue images (2015) (14)
MSR1 repeats modulate gene expression and affect risk of breast and prostate cancer (2018) (14)
Evidence for linkage to chromosome 13q32 in an independent sample of schizophrenia families (2005) (14)
Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data (2019) (14)
A gene regulatory network explains RET-EDNRB epistasis in Hirschsprung disease. (2019) (14)
Segregation analysis of 159 soft tissue sarcoma kindreds: Comparison of fixed and sequential sampling schemes (1992) (14)
Erratum: Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects (2017) (14)
The impact of data quality on the identification of complex disease genes: experience from the Family Blood Pressure Program (2006) (14)
Genetic analysis of over one million people identifies 535 novel loci for blood pressure (2017) (14)
Trend for an association between schizophrenia and D3S1310, a marker in proximity to the dopamine D3 receptor gene. (1999) (13)
GIST: A web tool for collecting gene information. (1999) (13)
Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010) (13)
Segregation Analysis of Blood Pressure and Body Mass Index in a Rural US Community (2002) (13)
A Polymorphic 3’UTR Element in ATP1B1 Regulates Alternative Polyadenylation and Is Associated with Blood Pressure (2013) (13)
Sequence variation within the fragile X locus. (2001) (13)
Cardiomyocytes have mosaic patterns of protein expression. (2018) (13)
Finding needles in haystacks--IRF6 gene variants in isolated cleft lip or cleft palate. (2004) (12)
Dinucleotide repeat (GT)n markers on chromosome 21. (1992) (12)
The end of the beginning: the race to begin human genome sequencing. (1996) (12)
Linkage analysis of neurofibromatosis. (1987) (12)
Origin and expansion of four different beta globin mutations in a single Arab village (2005) (12)
Gene- and tissue-level interactions in normal gastrointestinal development and Hirschsprung disease (2019) (12)
Corrigendum: Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map (1994) (12)
High incidence of deafness from three frequent connexin 26 mutations in an isolated community. (2006) (11)
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 (2006) (11)
Linkage analysis of neurofibromatosis type I, using chromosome 17 DNA markers. (1989) (11)
A test of nonrandom segregation (1984) (10)
An expository review of two methods of calculating the paternity probability. (1988) (10)
Cloning of rat thymic stromal lymphopoietin receptor (TSLPR) and characterization of genomic structure of murine Tslpr gene. (2002) (10)
Linkage analysis incorporating gene-age interactions identifies seven novel lipid loci: the Family Blood Pressure Program. (2014) (10)
Genetic diversity within and between natural populations of Rattus norvegicus. (1988) (10)
Nonuniform recombination within the human beta-globin gene cluster: A reply to B. S. Weir and W. G. Hill. (1986) (10)
Issues in gene mapping and detection of major genes (1992) (10)
Associations between NOS1AP Single Nucleotide Polymorphisms (SNPs) and QT Interval Duration in Four Racial/Ethnic Groups in the Multi‐Ethnic Study of Atherosclerosis (MESA) (2013) (10)
Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations (2019) (9)
DNA polymorphisms in the 3' untranslated region of genes on human chromosome 21. (1993) (9)
Schizophrenia and porphobilinogen deaminase gene polymorphisms: an association study (1992) (9)
Estimating the age‐at‐onset function using life‐table methods (1988) (9)
A linkage map of three anonymous human DNA fragments and SOD‐1 on chromosome 21. (1985) (9)
A study of restriction fragment length polymorphisms at the human alpha-1-antitrypsin locus (1985) (9)
A somatic cell hybrid map of human chromosome 13. (1993) (9)
The probability of exclusion based on the HLA locus. (1983) (9)
The Role of Rare Variants in Systolic Blood Pressure: Analysis of ExomeChip Data in HyperGEN African Americans (2015) (9)
Efficient construction of high-resolution physical maps from yeast artificial chromosomes using radiation hybrids: inner product mapping. (1993) (9)
Magnitude of Mendelian versus complex inheritance of rare disorders (2021) (9)
Chromosomal localization of the mouse Src-like adapter protein (Slap) gene and its putative human homolog SLA. (1995) (8)
Widespread promiscuous genetic information transfer from DNA to RNA. (2011) (8)
Deletion mapping of polymorphic loci by apparent parental exclusion. (1983) (8)
Molecular mapping of chromosome 21 and the region responsible for Down syndrome. (1989) (8)
Planning the Genome Institute's Future (2003) (8)
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease (2012) (8)
Correction: Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations (2018) (8)
Erratum to: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits : (Nature Genetics, (2018), 50, 10, (1412-1425), 10.1038/s41588-018-0205-x) (2018) (8)
Cloning and linkage mapping of three polymorphic tetranucleotide (TAAA)n repeats on human chromosome 21. (1992) (8)
Estimation of segregation and ascertainment probabilities by discarding the single probands (1987) (8)
Veterans and Agent Orange: Update 11 (2018) (2018) (2018) (7)
Co-occurrence of schizophrenia and Treacher Collins syndrome. (1993) (7)
Erratum: A genome-wide scan for obesity in African-Americans (Diabetes (2002) 51 (541-544) (2003) (7)
Estimating the prior probability of paternity from the results of exclusion tests. (1984) (7)
Linkage mapping of the AML1 gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region. (1992) (7)
DNA profile similarity in a subdivided population. (1994) (7)
SNPs and Other Features as They Predispose to Complex Disease: Genome-Wide Predictive Analysis of a Quantitative Phenotype for Hypertension (2011) (7)
A trisomic transmission disequilibrium test (2004) (7)
Linkage mapping of the carbonyl reductase (CBR) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region. (1992) (7)
Segregation analysis of microcephaly. (1996) (7)
Linkage mapping of the cystathionine β-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3′ untranslated region (2004) (7)
Report and abstracts of the Second International Workshop on Human Chromosome 13 Mapping 1994. (1995) (6)
Detection of genetic heterogeneity for complex quantitative phenotypes (1992) (6)
Dinucleotide repeat polymorphism within ERCC5 gene. (1994) (6)
Genetic differentiation in the colonising lizard Anolis grahami (1977) (6)
Variation in the checkpoint kinase 2 gene is associated with type 2 diabetes in multiple populations (2010) (6)
PLATELET MEMBRANE FLUIDITY IN ALZHEIMER'S DISEASE (1988) (6)
Genetic Analysis Workshop 7: Issues in Gene Mapping and Detection of Major Genes, Bergamo Conference Center, Dayton, Ohio, October 1990 (1992) (6)
Rare coding TTN variants are associated with electrocardiographic QT interval in the general population (2016) (6)
Linkage Map on Chromosome 21q and the Association of a DNA Haplotype with a Propensity to Nondisjunction and Trisomy 21 a (1985) (6)
Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus. (2021) (6)
Some fallacious thinking about the paternity index: A reply to Dr. Jack Valentin's comments. (1986) (5)
Association study of schizophrenia and the IL-2 receptor beta chain gene. (1995) (5)
Summer rainfall in India: A review of monsoonal and extramonsoonal aspects – (1968) (5)
Information content of the Centre d'Etude du Polymorphisme Humain (CEPH) family structures for linkage studies (1991) (5)
Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation (2018) (5)
Testing the Ret and Sema3d genetic interaction in mouse enteric nervous system development (2017) (5)
Gene-by-Psychosocial Factor Interactions Influence Diastolic Blood Pressure in European and African Ancestry Populations: Meta-Analysis of Four Cohort Studies (2017) (5)
Quality assessment and refinement of chromatin accessibility data using a sequence-based predictive model (2022) (4)
Chronic constipation due to Hirschsprung's disease and desmosis coli in a family (2002) (4)
2008 Presidential Address: Principia Genetica: Our Future Science. (2010) (4)
A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease (2020) (4)
Interferon pathway lupus risk alleles modulate risk of death from acute COVID-19 (2022) (4)
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p (2022) (4)
High Levels of Interest in Reproductive Genetic Information in Parents of Children and Adults with Hirschsprung Disease. (2019) (4)
Interferon pathway lupus risk alleles modulate risk of death from acute COVID-19 (2021) (4)
Massively parallel rare disease genetics (2011) (4)
Band-specific localization of the microsatellite at D13S71 by microdissection and enzymatic amplification. (1992) (4)
Autosomal dominant cone-rod dystrophy: a linkage study with 17 biochemical and serological markers. (1981) (4)
Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat (1991) (3)
DSLINK: a computer program for gene-centromere linkage analysis in families with a trisomic offspring. (1987) (3)
Human variation : a genetic perspective on diversity, race, and medicine (2014) (3)
Genetic studies in isolated populations: Victor McKusick's contributions to population genetics (2012) (3)
2013 William Allan Award: My multifactorial journey. (2014) (3)
MicroRNA-4516-mediated regulation of MAPK10 relies on 3′ UTR cis-acting variants and contributes to the altered risk of Hirschsprung disease (2020) (3)
A genetic map of human chromosome 11p (1986) (3)
Normal findings 52 years after in utero radiation exposure (1991) (3)
Ching Chun Li (1912–2003):A Personal Remembrance of a Hero of Genetics (2004) (3)
Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31 (2018) (3)
Human genome meeting 2016 (2016) (3)
The gene order problem when using somatic cell hybrids. (1992) (3)
Sequence-based correction of barcode bias in massively parallel reporter assays (2021) (3)
Differences in the frequency of X-linked deleterious genes in human populations. (1983) (3)
1998 ASHG Award for Excellence in Education. Professor Ching Chun Li, courageous scholar and educator. (1999) (3)
THE UTILITY OF LINKED MARKER GENES IN GENETIC COUNSELING. (1979) (3)
Analysis of putative cis-regulatory elements regulating blood pressure variation (2019) (3)
Possible heterogeneity in the phosphoglycolate phosphatase (PGP)-haptoglobin alpha (HPA) linkage. (1984) (2)
Genetic Variation Analysis of Neuropsychiatric Traits (2001) (2)
Higher prevalence of Hirschsprung disease in China explained by a common RET mutation (2006) (2)
D21S210: A highly polymorphic (GT)n marker closely linked to the β-amyloid protein precursor (APP) gene (1993) (2)
Multiple, independent, common variants at RET, SEMA3 and NRG1 gut enhancers specify Hirschsprung disease risk in European ancestry subjects. (2021) (2)
Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension (2022) (2)
Genome‐wide pleiotropy analysis identifies novel blood pressure variants and improves its polygenic risk scores (2021) (2)
A Mitochondrial DNA Haplogroup Is Associated With Increased Risk of Advanced Age-Related Macular Degeneration (2008) (2)
Hybrids of aneuploid human cancer cells permit complementation of simple and complex cancer defects (2009) (2)
Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney (2017) (2)
Multigenic inheritance of Hirschsprung disease. (1997) (2)
Copy number polymorphisms near SLC2A9 are associated with serum uric acid concentrations (2014) (2)
Genetics and genomics in cardiovascular gene discovery (2012) (2)
Genetic studies of hereditary melanoma (HM) and its precursor, the dysplastic nevus syndrome (DNS) (1985) (2)
Chromosome 21 genetic linkage data set based on CEPH pedigrees. (1992) (1)
Discovery and Refinement Supplementary (2015) (1)
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 (1997) (1)
Multiple, independent, common variants overlapping known and putative gut enhancers at RET, SEMA3 and NRG1 underlie Hirschsprung disease risk in European ancestry subjects (2020) (1)
A MULTILEVEL MODEL TO ADDRESS BATCH EFFECTS IN COPY NUMBER USING SNP ARRAYS (2009) (1)
P-424: The 460Trp α-adducin allele and high sodium-lithium countertransport are associated with high blood pressure and increased body fat (2001) (1)
Genetic Loci In fl uencing Myocardial Mass (2016) (1)
The behavior of meiosis in sperm. (1994) (1)
Feitosa, M. F., & Levy, D. (2018). Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K (2018) (1)
Public Stem Cell Banks (2003) (1)
Racial profiling in medicine (2013) (1)
Abstract 2682: CAPON Alleles Predict Firings of ICDs Implanted for Primary Prevention of Sudden Cardiac Death (2006) (1)
Association between the dopamine D3 receptor gene locus and liability to schizophrenia, as well as its age of onset (1995) (1)
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. (2009) (1)
Identity of different mutations for deleterious genes (reply) (1983) (1)
Generation of a cre recombinase-conditional Nos1ap over-expression transgenic mouse (2014) (1)
Correction: Defining the Contribution of CNTNAP2 to Autism Susceptibility (2013) (1)
C. Thomas Caskey (1938–2022) (2022) (1)
Issues in the Genetic Epidemiology of Cancer (1985) (1)
TDT: Advantages & disadvantages for mapping studies of schizophrenia (2000) (1)
The International Hirschsprung's Disease Consortium: differential liabiilties of coding and non-coding mutations in complex disease (2006) (1)
Evidence for autosomal dominance and pleiotropy of the cutaneous malignant melanoma (CMM)/Dysplastic nevus (DN) gene. (1987) (1)
RET Mutation and Function in HSCR, MEN2, and Other Cancers (2016) (1)
Tissue-specific and tissue-agnostic effects of genome sequence variation modulating blood pressure (2022) (1)
Commentary: The central questions of human genetics: Richard Lewontin's 1968 senior lecture in Victor McKusick's Bar Harbor short course. (2016) (1)
Obituary: Victor Almon McKusick (1921–2008) (2008) (1)
Loci influencing blood pressure identified using a cardiovascular gene-centric array (Correction to Ganesh et al. 22 (8): 1663) (2013) (1)
Patterns and rates of exonic de novo mutations in sporadic Hirschsprung disease patients (2013) (1)
Rare coding variants in RCN3 are associated with blood pressure (2022) (0)
Genome-wide association analysis of coffee drinking suggests association with CYP1A1CYP1A2 and NRCAM (2012) (0)
Differential liabilities of coding and non-coding mutations in complex disease (2005) (0)
Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (0)
Generation of a cre recombinase-conditional Nos1ap over-expression transgenic mouse (2014) (0)
Single worldwide origin for a common low-penetrance RET mutation in Hirschsprung disease (HSCR) (2007) (0)
the gene responsible for cerebellar hypoplasia and quadrupedal Homozygosity mapping and targeted genomic sequencing reveal (2011) (0)
Aspects of linkage analysis using RFLP's. (1984) (0)
Abstract 4401: Two Independent Genetic Variants in NOS1AP are Associated with QT interval in a Multi-Ethnic Population: the Dallas Heart Study (2008) (0)
A linkagemap ofthree anonymoushumanDNA fragments and SOD-1on chromosome 21 (1985) (0)
Mutation detection in autosomal dominant Hirschsprung disease: SSCP analysis of the RET proto-oncogene (1994) (0)
Multi-ancestry genome-wide association study accounting for gene-psychosocial factor interactions identifies novel loci for blood pressure traits (2020) (0)
Abstract 2074: Association of Hypertension Drug Target Genes With Blood Pressure and Hypertension: Results From a Genome-wide Association Study in 29,136 Individuals (2009) (0)
Profile of Mary-Claire King, 2014 Lasker-Koshland Special Achievement in Medical Science Awardee (2014) (0)
Contributors and Participants (1982) (0)
Contributors and Participants (1982) (0)
Discovery and validation of 107 blood pressure loci from UK Biobank offers novel biological insights into cardiovascular risk (2016) (0)
Abstract 2967: Long QT Syndrome Genes Modulate The Effect Of NOS1AP Haplotypes On Cardiac Repolarization (2007) (0)
DOI: 10.1126/science.282.5389.682 (2008) (0)
Annual review of genomics and human genetics (2000) (0)
Abstract 151: A Polymorphic T-Rich Element in ATP1B1 Is Associated with Blood Pressure and Regulates Alternative Polyadenylation (2012) (0)
Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data (2019) (0)
Secondary Gene Variation and Environmental Interactions (2004) (0)
A full mutation spectrum in Hirschsprung disease : copy number analysis (2009) (0)
Title Whole exome sequencing coupled with unbiased functionalanalysis reveals new Hirschsprung disease genes (2017) (0)
Cardiac muscle-restricted partial loss of Nos1ap expression has limited impact on electro- and echo-cardiographic features (2022) (0)
Linkage Analysis of Chromosome Four Centre d ' Etude du Polymorphisme Humain ( CEPH ) ( White (2006) (0)
P-486: High anxiety and the Trp460 mutation of the α adducin gene predict higher blood pressure (2001) (0)
Rare coding variants in RCN3 are associated with blood pressure (2022) (0)
Acknowledgement to referees 2002 (2003) (0)
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes (2017) (0)
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns (2015) (0)
Detection ofTandemDuplications andImplications for Linkage Analysis (1994) (0)
GENOTYPE QUALITY SCORE ALLOWS SPECIFIC DETECTION OF DE NOVO MUTATIONS IN NEXT- GENERATION SEQUENCING DATA (2016) (0)
Exonic de novo mutations in sporadic Hirschsprung disease (2014) (0)
Response to Brosens et al (2018) (0)
FIFTH INTERNATIONAL CONGRESS OF HUMAN GENETICS (1976) (0)
Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus (2018) (0)
New genetic and genomic technologies for dissecting complex diseases (1998) (0)
Microarrays High-Throughput Variation Detection and Genotyping Using data (2001) (0)
News Analysis (2008) (0)
An association study of schizophrenia and the porphobilinogen deaminase gene alleles (1992) (0)
RET enhancer haplotype-dependent remodeling of the human fetal gut development program (2022) (0)
Drift variance of race admixture (1976) (0)
Pairwise Linkage Analysis ofIILoci on Human Chromosome4 (1988) (0)
Announcements (1992) (0)
Correction for Davis, Profile of Aravinda Chakravarti (2019) (0)
Genetics of disease. (2008) (0)
Genome Wide Pleiotropic Analysis to Identify Novel Variants and Improve Genetic Risk Score Construction (2021) (0)
Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31 (2018) (0)
Analysis of human chromosome 21 for a locus conferring susceptibility to Hirschsprung Disease (1994) (0)
Human embryonic stem cells have a unique epigenetic signature data (2006) (0)
Lipid loci with multiple signals in Europeans. (2013) (0)
Abstract MP60: Investigation of Blood Pressure Genetic Loci in African Americans using the Metabochip (2013) (0)
Cloning ofthecDNAfor a HumanHomologue oftheDrosophila WhiteGeneandMapping toChromosome 21q22.3 (1996) (0)
Evidence for multiple origins of the fiE-globin gene in Southeast Asia ( DNA polymorphisms / haplotypes / population genetics / hemoglobinopathies ) (2003) (0)
Roger R. Williams, M.D. (1944–1998): Cardiovascular geneticist, physician, and gentle friend (1999) (0)
Effects of Glucocorticoid Immunosuppression on Se- rum Cystatin C Concentrations in Renal Transplant (2001) (0)
Autosomal dominant aniridia: Prob phosphatase-1 locus on chromosome (genetic heterogeneity/LIPED computer program/variable expres (2016) (0)
Abstract 4411: Associations Between Genetic Variations in NOS1AP and QT Interval Duration in Four Racial/Ethnic Groups in the Multi-Ethnic Study of Atherosclerosis (MESA) (2008) (0)
University of Groningen Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci Tragante, (2014) (0)
Edinburgh Research Explorer Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index (2017) (0)
2011 introduction to Curt Stern Award. (2012) (0)
Newton E. Morton (1929-2018). (2018) (0)
University of Groningen Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index Hoggart, (2014) (0)
Planning the Genome Institute's future [1] (multiple letters) (2003) (0)
Statistical Analysis of Radiation Hybrid Data (1994) (0)
Linkage analysis between Huntington disease and the G8 marker locus (1986) (0)
Differential liabilities of rare coding and common non-coding RET mutations explain the multifactorial genetics of Hirschsprung diseases (2005) (0)
Ret loss-of-function decreases neural crest progenitor proliferation and restricts developmental fate potential during enteric nervous system development (2021) (0)
Patterns of human genomic variation (2001) (0)
Deborah A. Nickerson (1954 –2021) (2022) (0)
Assignment1 of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR (1999) (0)
Systems biology approaches to the search for disease genes in Hirschsprung‘s disease (2014) (0)
Estimating Genome-Wide Copy Number Using Allele Specific Mixture Models (2007) (0)
Response to Brosens et al (2018) (0)
Molecular Characterization ofTwo Proximal Deletion Breakpoint Regions inBothPrader-Willi andAngelman SyndromePatients (1995) (0)
The Compleat Human Genome (2022) (0)
Association studies in schizophrenia using a dopamine D3 receptor gene polymorphism (1994) (0)
43rd European Mathematical Genetics Meeting (EMGM) 2015. April 16-17, 2015, Brest, France: Abstracts (2015) (0)
Genetic analysis of rheumatoid arthritis (1988) (0)
Contents Vol. 64, 2007 (2007) (0)
Complex Genetic Diseases: Why Are Chronic Inflammatory Diseases So Complicated? (2006) (0)
Decision letter: GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background (2020) (0)
RET somatic mutations are underrecognized in Hirschsprung disease (2017) (0)
Detection and Estimation of Linkage, Especially Multipoint Mapping (1987) (0)
The gastrointestinal development ‘parts list’: transcript profiling of embryonic gut development in wildtype and Ret-deficient mice (2019) (0)
Genetic Epidemiology and genetic Epidemiology (1992) (0)
Genetic Epidemiology of Adenocarcinoma of the Colon1 (1985) (0)
The analysis of nondisjunction in human ovarian teratomas using dna markers (1991) (0)
HF-566-01 INTERACTION OF ARRHYTHMIA AND CARDIOMYOPATHY WITH GENETIC VARIANT GROUPS IN THE UK BIOBANK POPULATION (2022) (0)
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (0)
Human genome meeting 2016 (2016) (0)
CAPON is a Novel QT-Interval Modifier Gene with Gender Dependent Effect Identified through Genomewide Association Analysis in Individuals from the General Population1 (2007) (0)
Genetic Analysis Workshop 7 (GAW7): Preface (1992) (0)
ASHG AWARDS AND ADDRESSES (2014) (0)
Molecular probes: Technology and medical applications, Alberto Albertini, Rodolfo Paoletti, and Ralph A. Reisfeld (eds.), New York: Raven Press, 1989, 292 pp., $90.00 (1990) (0)

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