Citation Impact
Citing Papers
Functional analysis of human and chimpanzee promoters
2005 StandoutNobel
Fetal Hemoglobin, Sickling, and Sickle Cell Disease
1990
De novo design of allosterically switchable protein assemblies
2024 StandoutNatureNobel
Sickle Cell Disease in Africa
2011
How Malaria Has Affected the Human Genome and What Human Genetics Can Teach Us about Malaria
2005
Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis.
1989 StandoutNobel
Genetic analysis of β-thalassemia intermedia in Israel: Diversity of mechanisms and unpredictability of phenotype
1997
Persistence of repeated sequences that evolve by replication slippage.
1992
Hemoglobin: Structure, Function and Allostery
2020
The β-Thalassemias
1999 Standout
Human and Chimpanzee Gene Expression Differences Replicated in Mice Fed Different Diets
2008 StandoutNobel
Effect of Hydroxyurea on the Frequency of Painful Crises in Sickle Cell Anemia
1995 Standout
Molecular basis of ? thalassemia in South China
1988
Identification and characterization of a spinal muscular atrophy-determining gene
1995 Standout
Genetic Signatures of Strong Recent Positive Selection at the Lactase Gene
2004
Sickle cell disease in India: A perspective
2016
1 The population genetics of the haemoglobinopathies
1998
Fetal Hemoglobin in Sickle Cell Anemia: Determinants of Response to Hydroxyurea
1997
The Natural History of Sickle Cell Disease
2013
6 β-Thalassaemia
1993
The muscular dystrophies
2002 Standout
Charge density-dependent strength of hydration and biological structure
1997 Standout
Role of the Biomolecular Energy Gap in Protein Design, Structure, and Evolution
2012 StandoutNobel
Phenotype—genotype relationships in monogenic disease: lessons from the thalassaemias
2001
Genetic modifiers of sickle cell disease
2012
Mendelian randomization: Using genes as instruments for making causal inferences in epidemiology
2007 Standout
Gender and haplotype effects upon hematological manifestations of adult sickle cell anemia
1995
Sickle-cell disease
1997
DNA sequence variation in a non-coding region of low recombination on the human X chromosome
1999 StandoutNobel
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
2015 Standout
Principal components analysis corrects for stratification in genome-wide association studies
2006 Standout
Haemoglobinopathies and the clinical epidemiology of malaria: a systematic review and meta-analysis
2012
Malaria
2013 Standout
8 The population genetics of the haemoglobinopathies
1993
High resolution of human evolutionary trees with polymorphic microsatellites
1994 StandoutNature
A New Statistical Method for Haplotype Reconstruction from Population Data
2001 Standout
Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans
1998 Standout
Levels of Fetal Hemoglobin Necessary for Treatment of Sickle Cell Disease
1988
Sickle-cell disease
2010 Standout
Sickle Cell Disease in a Patient with Sickle Cell Trait and Compound Heterozygosity for Hemoglobin S and Hemoglobin Quebec–Chori
1991
The Peopling of Sao Tome (Gulf of Guinea): Origins of Slave Settlers and Admixture with the Portuguese
2002
Abundant Raw Material for Cis-Regulatory Evolution in Humans
2002
Homology requirements for unequal crossing over in humans.
1991 StandoutNobel
Mortality In Sickle Cell Disease -- Life Expectancy and Risk Factors for Early Death
1994 Standout
A Map of Recent Positive Selection in the Human Genome
2006 Standout
7 Increased HbF in adult life
1993
World distribution of factor V Leiden
1995 Standout
The densely fluorinated nanospace of a porous coordination polymer composed of perfluorobutyl-functionalized ligands
2014 StandoutNobel
How culture shaped the human genome: bringing genetics and the human sciences together
2010 Standout
The paradox of hemoglobin SC disease
2003
Two different forms of homozygous sickle cell disease occur in Saudi Arabia
1991
Extensive Linkage Disequilibrium in Small Human Populations in Eurasia
2002 StandoutNobel
Cancer as an evolutionary and ecological process
2006 Standout
Why are some genetic diseases common?
1993
The Human Condition—A Molecular Approach
2014 StandoutNobel
The Genetics of Human Adaptation: Hard Sweeps, Soft Sweeps, and Polygenic Adaptation
2010 Standout
Genome-wide detection and characterization of positive selection in human populations
2007 StandoutNature
Yersinia pestis , the cause of plague, is a recently emerged clone of Yersinia pseudotuberculosis
1999 Standout
DNA sequence variation associated with elevated fetal G gamma globin production
1985
Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa: insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families
1989
How small was the bottleneck?
1986 Nature
Human evolution
1999 StandoutNobel
Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria
1987
alpha-Thalassaemia associated with the deletion of two nucleotides at position -2 and -3 preceding the AUG codon.
1985
Estimating Allele Age
2000
A gene deletion ending within a complex array of repeated sequences 3' to the human beta-globin gene cluster.
1986 StandoutNobel
Color and genomic ancestry in Brazilians
2002 Standout
Effects of thalassemia and microcytosis on the hematologic and vasoocclusive severity of sickle cell anemia
1984
Foetal Haemoglobin, Erythrocytes Containing Foetal Haemoglobin, and Hematological Features in Congolese Patients with Sickle Cell Anaemia
2012
Reevaluation of chloride's regulation of hemoglobin oxygen uptake: the neglected contribution of protein hydration in allosterism.
1994
Detection of a novel DNA polymorphism in the beta-globin gene cluster.
1984 StandoutNobel
Genomics and human disease—variations on variation
1998 StandoutNobel
Effect of a comprehensive clinical care program on disease course in severely ill children with sickle cell anemia in a sub-Saharan African setting
2003
Extensive Nuclear DNA Sequence Diversity Among Chimpanzees
1999 StandoutScienceNobel
Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes
1986 Standout
THE STEREOCHEMICAL MECHANISM OF THE COOPERATIVE EFFECTS IN HEMOGLOBIN REVISITED
1998
Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations
1991
Malaria’s Eve: Evidence of a recent population bottleneck throughout the world populations of Plasmodium falciparum
1998
Beta‐thalassaemia intermedia: is it possible consistently to predict phenotype from genotype?
1998
The role of protein kinase C in cell surface signal transduction and tumour promotion
1984 StandoutNature
Purification and characterization of the 47,000-dalton protein phosphorylated during degranulation of human platelets.
1983
DNA polymorphisms at the BCL11A , HBS1L-MYB , and β- globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease
2008
Oxygen Carriers (“Blood Substitutes”)Raison d'Etre, Chemistry, and Some PhysiologyBlut ist ein ganz besondrer Saft
2001
Potential use of additivity of mutational effects in simplifying protein engineering.
1996
Identification of the Cystic Fibrosis Gene: Genetic Analysis
1989 StandoutScience
A Common Human β Globin Splicing Mutation Modeled in Mice
1998 StandoutNobel
Global Patterns of Linkage Disequilibrium at the CD4 Locus and Modern Human Origins
1996 StandoutScienceNobel
Hematologically and Genetically Distinct Forms of Sickle Cell Anemia in Africa
1985
Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene.
1989
A structural view of evolutionary divergence
1999 StandoutNobel
The Ratio of the Gγ and Aγ Chains: Variations due to Anomalies at the Molecular Level
1985
Polymorphism of the Hinf I restriction site located 1 Kb 5? to the human ?-globin gene
1982
Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation.
1986
The bisindolylmaleimide GF 109203X is a potent and selective inhibitor of protein kinase C
1991 Standout
S1-Nuclease mapping of the genomic Lepore-Boston DNA demonstrates that the entire large intervening sequence of the fusion gene is of β-type
1984
Archaic African and Asian lineages in the genetic ancestry of modern humans.
1997
The scanning model for translation: an update.
1989 Standout
Human evolution
1999 StandoutNobel
DNA restriction fragments associated with α1-antitrypsin indicate a single origin for deficiency allele PI Z
1985 Nature
An analysis of fetal hemoglobin variation in sickle cell disease: the relative contributions of the X-linked factor, beta-globin haplotypes, alpha-globin gene number, gender, and age
1995
HbS-Oman Heterozygote: A New Dominant Sickle Syndrome
1998
Protein kinase C phosphorylates the inhibitory guanine‐nucleotide‐binding regulatory component and apparently suppresses its function in hormonal inhibition of adenylate cyclase
1985 StandoutNobel
Extensive mitochondrial diversity within a single Amerindian tribe.
1991 StandoutNobel
Works of J. Pagnier being referenced
Expression d'hémoglobine humaine recombinante dans les plantes
1995
Transfert des propriétés fonctionnelles de l'hémoglobine bovine à l'hémoglobine humaine
1995
Haemoglobin α2β223Val → Ile produced in Escherichia coli facilitates Hb S polymerization
1990
Two mutations in recombinant Hb β F41(C7)Y, K82 (EF6)D show additive effects in decreasing oxygen affinityxs
1996
Chimeric Hemoglobin Subunits: Functional Properties of a Recombinant β/α Hemoglobin
1994
A Novel Allosteric Mechanism in Haemoglobin
1993
Structural analysis of the 5' flanking region of the beta-globin gene in African sickle cell anemia patients: further evidence for three origins of the sickle cell mutation in Africa.
1988
Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients.
1985
The -158 site 5' to the G gamma gene and G gamma expression
1985
Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.
1984
Hemoglobins S and C in Upper Volta
1984
An unusual case of leukemia with high fetal hemoglobin: demonstration of abnormal hemoglobin synthesis localized in a red cell clone
1977
Enhanced polymerization of recombinant human deoxyhemoglobin beta 6 Glu----Ile.
1990
Mapping the alpha-globin genes in an Algerian HbH patient and his family
1980
Origin and spread of beta-globin gene mutations in India, Africa, and Mediterranea: analysis of the 5' flanking and intragenic sequences of beta S and beta C genes.
1991