Citation Impact
Citing Papers
Epigenetic Transgenerational Actions of Endocrine Disruptors and Male Fertility
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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
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1997
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2004
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1995 Standout
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1988
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1993 Standout
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Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
1993
Genetic Signatures of Strong Recent Positive Selection at the Lactase Gene
2004
Molecular defects in the pathogenesis of pituitary tumours
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1 The population genetics of the haemoglobinopathies
1998
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1997
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Oxygen sensing by HIF hydroxylases
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Gender and haplotype effects upon hematological manifestations of adult sickle cell anemia
1995
Epigenetics in Cancer
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Principal components analysis corrects for stratification in genome-wide association studies
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8 The population genetics of the haemoglobinopathies
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1988
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Sar1p N-Terminal Helix Initiates Membrane Curvature and Completes the Fission of a COPII Vesicle
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Long-Term Expansion of Functional Mouse and Human Hepatocytes as 3D Organoids
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CASK Functions as a Mg2+-Independent Neurexin Kinase
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Homology requirements for unequal crossing over in humans.
1991 StandoutNobel
Membrane curvature and mechanisms of dynamic cell membrane remodelling
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7 Increased HbF in adult life
1993
Cerebral organoids model human brain development and microcephaly
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Sporadic Pheochromocytomas Are Rarely Associated with Germline Mutations in thevhlTumor Suppressor Gene or theretProtooncogene1
1997
Parental imprinting of anIGF‐2transgene
1993
Two different forms of homozygous sickle cell disease occur in Saudi Arabia
1991
Genomic imprinting: parental influence on the genome
2001 Standout
Allelic inactivation regulates olfactory receptor gene expression
1994 StandoutNobel
Scanning for mutations in the human prion protein open reading frame by temporal temperature gradient gel electrophoresis
1995 StandoutNobel
The Human Condition—A Molecular Approach
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A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders
2005 Standout
The kinesin KIF1Bβ acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor
2008 StandoutNobel
Genome-wide detection and characterization of positive selection in human populations
2007 StandoutNature
Human disorders of cortical development: from past to present
2006
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
Advances in thalassemia research
1984
How small was the bottleneck?
1986 Nature
Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria
1987
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
Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r)
1993 Standout
BiSearch: primer-design and search tool for PCR on bisulfite-treated genomes
2005
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
Imprinting of a genomic domain of 11p15 and loss of imprinting in cancer: an introduction.
1999
Foetal Haemoglobin, Erythrocytes Containing Foetal Haemoglobin, and Hematological Features in Congolese Patients with Sickle Cell Anaemia
2012
The rate of telomere sequence loss in human leukocytes varies with age
1998 StandoutNobel
Epigenetic Reprogramming in Mammalian Development
2001 StandoutScience
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
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
DNA polymorphisms at the BCL11A , HBS1L-MYB , and β- globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease
2008
Somatic mutations of the β-catenin gene are frequent in mouse and human hepatocellular carcinomas
1998
Gold Nanoparticles in Chemical and Biological Sensing
2012 Standout
Identification of the Cystic Fibrosis Gene: Genetic Analysis
1989 StandoutScience
Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells
2006 StandoutNobel
Epigenetic changes at the insulin-like growth factor II/ H19 locus in developing kidney is an early event in Wilms tumorigenesis
1997
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
Genetic Dissection of Complex Traits
1994 StandoutScience
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
The Ratio of the Gγ and Aγ Chains: Variations due to Anomalies at the Molecular Level
1985
Repression of the Insulin-Like Growth Factor II Gene by the Wilms Tumor Suppressor WT1
1992 Science
Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation.
1986
Genome-Wide Single Nucleotide Polymorphism Analysis Reveals Frequent Partial Uniparental Disomy Due to Somatic Recombination in Acute Myeloid Leukemias
2005
Clinical diversity of sickle cell anemia: Genetic and cellular modulation of disease severity
1983
Effects of DNA methylation on topoisomerase I and II cleavage activities.
1994 StandoutNobel
Transcriptomes of germinal zones of human and mouse fetal neocortex suggest a role of extracellular matrix in progenitor self-renewal
2012 StandoutNobel
Loss of imprinting of a paternally expressed transcript, with antisense orientation to K V LQT1, occurs frequently in Beckwith–Wiedemann syndrome and is independent of insulin-like growth factor II imprinting
1999
The silent carrier allele: β thalassemia without a mutation in the β-globin gene or its immediate flanking regions
1984 StandoutNobel
DNA restriction fragments associated with α1-antitrypsin indicate a single origin for deficiency allele PI Z
1985 Nature
Role ofVHLGene Mutation in Human Cancer
2004 StandoutNobel
The first half-century of nuclear transplantation
2003 StandoutNobel
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
Epigenetic mechanisms underlying the imprinting of the mouse H19 gene.
1993 StandoutNobel
Extensive mitochondrial diversity within a single Amerindian tribe.
1991 StandoutNobel
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Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia
2005
Overexpression of vasopressin (V3) and corticotrophin‐releasing hormone receptor genes in corticotroph tumours
1998
Uniparental paternal disomy in a genetic cancer-predisposing syndrome
1991 Nature
DNA haplotype distribution in Algerian ? thalassaemia patients
1988
Use of chemical clamps in denaturing gradient gel electrophoresis: application in the detection of the most frequent Mediterranean beta-thalassemic mutations.
1993
β‐Thalassemia in Algeria
1990
Somatic Mosaicism for Partial Paternal Isodisomy in Wiedemann-Beckwith Syndrome: A Post-Fertilization Event
1993
So-called ‘cryptogenic’ partial seizures resulting from a subtle cortical dysgenesis due to adoublecortin gene mutation
2002
Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH)
1998
Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients.
1985
DHPLC-Based Method for DNA Methylation Analysis of Differential Methylated Regions from Imprinted Genes
2003
Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.
1984
Anthropological approach to the heterogeneity of beta-thalassemia mutations in northern Africa.
1994
The RET protooncogene in sporadic pheochromocytomas: frequent MEN 2-like mutations and new molecular defects.
1995
The sickle gene polymorphism in North Africa
1981
Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation.
1998