Citation Impact
Citing Papers
Oral cavity and oropharyngeal squamous cell carcinoma—an update
2015 Standout
Consensus Statement of the Movement Disorder Society on Tremor
2008 Standout
Role of yeast in cancer research
1992 StandoutNobel
Base-excision repair of oxidative DNA damage
2007 StandoutNature
Population frequencies of inherited neuromuscular diseases—A world survey
1991 Standout
Specific Function of DNA Ligase I in Simian Virus 40 DNA Replication by Human Cell-free Extracts Is Mediated by the Amino-terminal Non-catalytic Domain
1997 StandoutNobel
Mis-translation of a Computationally Designed Protein Yields an Exceptionally Stable Homodimer: Implications for Protein Engineering and Evolution
2006 StandoutNobel
Cellular roles of DNA topoisomerases: a molecular perspective
2002 Standout
The Ashkenazic Jewish Bloom Syndrome Mutation blmAsh Is Present in Non-Jewish Americans of Spanish Ancestry
1998
Oculopharyngeal Muscular Dystrophy
1999
Meibomian gland dysfunction
1996 Standout
Identification and characterization of a spinal muscular atrophy-determining gene
1995 Standout
Idiopathic dystonia among ashkenazi jews: Evidence for autosomal dominant inheritance
1989
Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy
2002 Standout
A duplication in the L1CAM gene associated with X–linked hydrocephalus
1993
Familial Creutzfeldt-Jakob Disease: Codon 200 Prion Disease in Libyan Jews
1997 StandoutNobel
Genetics of hereditary colorectal cancer
2005
Strong Amerind/White Sex Bias and a Possible Sephardic Contribution among the Founders of a Population in Northwest Colombia
2000 Standout
Balancing Acts
2004 Standout
The muscular dystrophies
2002 Standout
Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents
1992 StandoutNobel
Neural-Tube Defects
1999 Standout
Ursolic acid: An anti‐ and pro‐inflammatory triterpenoid
2008 Standout
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32–34
1990
TFOS DEWS II pathophysiology report
2017 Standout
Prevalence of Muscular Dystrophies: A Systematic Literature Review
2014 Standout
Executive Functions and Developmental Psychopathology
1996 Standout
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
2016 Standout
Bloom's Syndrome. XII. Report from the Registry for 1987
1989
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
1995
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
1997 Standout
Wnt/β-Catenin Signaling and Disease
2012 Standout
Dendritic Anomalies in Disorders Associated with Mental Retardation
2000 Standout
Wnt/β-Catenin Signaling: Components, Mechanisms, and Diseases
2009 Standout
Autism: Towards an Integration of Clinical, Genetic, Neuropsychological, and Neurobiological Perspectives
1996 Standout
Molecular pathogenesis of Philadelphia chromosome negative myeloproliferative disorders
2004
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
2005 Standout
Chromosome 21 and Down syndrome: from genomics to pathophysiology
2004 Standout
The mismatch DNA repair heterodimer, hMSH2/6, regulates BLM helicase
2004 StandoutNobel
Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia
2007
Head and neck cancer associated with bloom's syndrome
1988
Eukaryotic DNA ligases
1990 StandoutNobel
Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome
2010
Effect of Consanguinity on Birth Weight for Gestational Age in a Developing Country
2007
Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation
1994
Limbal Stem Cell Deficiency and Ocular Phenotype in Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Caused by p63 Mutations
2011
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3
1990 Nature
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
1996 Standout
Down syndrome
2020 Standout
22q11.2 deletion syndrome
2015 Standout
Human gene for torsion dystonia located on chromosome 9q32-q34
1989
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
2005 StandoutNature
CRASH Syndrome: Clinical Spectrum of Corpus Callosum Hypoplasia, Retardation, Adducted Thumbs, Spastic Paraparesis and Hydrocephalus Due to Mutations in One Single Gene, L1
1995
A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders
2005 Standout
Wnt/β-Catenin Signaling, Disease, and Emerging Therapeutic Modalities
2017 Standout
DNA ligase III is the major high molecular weight DNA joining activity in SV40-transformed human fibroblasts: normal levels of DNA ligase III activity in Bloom syndrome cells
1993
Neurologic genetic diseases of Jewish people
1994
Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities
1989
Immunological lesions in human uracil DNA glycosylase: association with Bloom syndrome.
1988
Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling.
1985
Mammalian DNA ligases. Catalytic domain and size of DNA ligase I.
1990 StandoutNobel
Etiologic Heterogeneity of Neural-Tube Defects
1976
DNA ligase I deficiency in Bloom's syndrome
1987 StandoutNatureNobel
CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES
1980
Origin of the PSEN1 E280A mutation causing early‐onset Alzheimer's disease
2013 StandoutNobel
Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance.
1990
Cluster of acute infantile spinal muscular atrophy (Werdnig‐Hoffmann disease) in a limited area of Reunion Island
1984
Bloom's syndrome XI. Progress report for 1983
1984
Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits
1997 Standout
Translational pathophysiology: a novel molecular mechanism of human disease
2000
Structural alterations of DNA ligase I in Bloom syndrome.
1987 StandoutNobel
Human DNA ligase I cDNA: cloning and functional expression in Saccharomyces cerevisiae.
1990 StandoutNobel
Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis.
1987 StandoutNobel
DNA Helicases, Genomic Instability, and Human Genetic Disease
2000
Strong Amerind/White Sex Bias and a Possible Sephardic Contribution among the Founders of a Population in Northwest Colombia
2000 Standout
Adult fragile X syndrome
1985
The association of the DiGeorge anomalad with partial monosomy of chromosome 22
1982
Polycythemia vera: myths, mechanisms, and management
2002
Global Patterns of Linkage Disequilibrium at the CD4 Locus and Modern Human Origins
1996 StandoutScienceNobel
Reduced oxygen species, mutation, induction and cancer initiation
1987
mice: Multivariate Imputation by Chained Equations inR
2011 Standout
Another elliptocytosis locus on chromosome 1?
1979
Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.
1992
Linkage analysis with chromosome 9 markers in hereditary essential tremor
1993
Trisomy 21: Mechanisms and Models*
1982
CHROMOSOME ABNORMALITIES IN INFANTILE AUTISM AND OTHER CHILDHOOD PSYCHOSES: A POPULATION STUDY OF 66 CASES
1985
A hungarian study on Werdnig-Hoffmann disease.
1989
The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu
1998 StandoutNobel
Natural History in Proximal Spinal Muscular Atrophy
1995
Down syndrome—a disruption of homeostasis
1983
Ocular Manifestations of the Ectrodactyly, Ectodermal Dysplasia, Cleft Lip-Palate Syndrome
1974
Works of K. Fried being referenced
Congenital contractural arachnodactyly in two double second cousins: possible homozygosity
1993
Benign familial microcytic thrombocytosis with autosomal dominant transmission
1997
Ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome
1972
Autosomal recessive oculopharyngeal muscular dystrophy.
1975
Proximal 14 trisomy 46, XX, −22+der(14)t(14;22)(q21;q11)mat
1980
Some effects on the offspring of uncle-niece marriage in the Moroccan Jewish community in Jerusalem.
1974
THE JERUSALEM PROSPECTIVE NEWBORN SURVEY OF MONGOLISM*
1970
High incidence of spinal muscular atrophy type I (Werdnig ‐ Hoffmann disease) in the Karaite community in Israel
1977
Spinal muscular atrophy type II
1971
Autosomal recessive hydrotic ectodermal dysplasia.
1977
Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim.
1977
X‐linked mental retardation and/or hydrocephalus
1972
Possible Linkage between Xg and the Locus for a Gene causing Mental Retardation with or without Hydrocephalus
1973
A SCORE BASED ON EIGHT SIGNS IN THE DIAGNOSIS OF DOWN SYNDROME IN THE NEWBORN
1980
Inheritance of idiopathic torsion dystonia among Jews.
1984
Polycystic kidneys associated with malformations of the brain, polydactyly, and other birth defects in newborn sibs. A lethal syndrome showing the autosomal-recessive pattern of inheritance.
1971