Citation Impact
Citing Papers
A Decade of Molecular Studies of Fragile X Syndrome
2002
Activation and Function of the MAPKs and Their Substrates, the MAPK-Activated Protein Kinases
2011 Standout
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
2014 Standout
Finishing the euchromatic sequence of the human genome
2004 StandoutNature
Statistical confidence for likelihood‐based paternity inference in natural populations
1998 Standout
Glutamate receptor ion channels
2005 Standout
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants
2016 Standout
Glutamate Receptor Ion Channels: Structure, Regulation, and Function
2010 Standout
Functions of DNA methylation: islands, start sites, gene bodies and beyond
2012 Standout
To err (meiotically) is human: the genesis of human aneuploidy
2001 Standout
Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome
1991
Mouse Chromosome 7
1992
Informativeness of human (dC-dA)n · (dG-dT)n polymorphisms
1990
Prevalence of fragile X syndrome
1996
The Tuberous Sclerosis Complex
2006 Standout
The history of cancer epigenetics
2004 Standout
Microsatellite analysis of maternity and the mating system in the Gulf pipefish Syngnathus scovelli, a species with male pregnancy and sex‐role reversal
1997
Ryanodine Receptors: Allosteric Ion Channel Giants
2014
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
1992 Nature
Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination
1998
Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome
2001
Molecular Mechanisms of Human Hypertension
2001 Standout
The retinoblastoma gene is involved in malignant progression of astrocytomas
1994
Malignant astrocytic glioma: genetics, biology, and paths to treatment
2007 Standout
The Human Genome Browser at UCSC
2002 Standout
Membrane anchored serine proteases: A rapidly expanding group of cell surface proteolytic enzymes with potential roles in cancer
2003
Balancing Acts
2004 Standout
The FHIT Gene, Spanning the Chromosome 3p14.2 Fragile Site and Renal Carcinoma–Associated t(3;8) Breakpoint, Is Abnormal in Digestive Tract Cancers
1996 Standout
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis
1991 Nature
Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura
2001 StandoutNature
Coffin-Lowry syndrome: clinical and molecular features
2002
Mutation of a Putative Mitochondrial Iron Transporter Gene (ABC7) in X-Linked Sideroblastic Anemia and Ataxia (XLSA/A)
1999
Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter
1996
Nonamplifying alleles at microsatellite loci: a caution for parentage and population studies
1995
Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
2001 StandoutNobel
Role of the retinoblastoma protein in the pathogenesis of human cancer.
1997 StandoutNobel
Immunogenicity of induced pluripotent stem cells
2011 StandoutNature
The pVHL-associated SCF ubiquitin ligase complex: Molecular genetic analysis of elongin B and C, Rbx1 and HIF-1α in renal cell carcinoma
2001 StandoutNobel
Phosphorylation and Functional Inactivation of TSC2 by Erk
2005 Standout
The C. elegans genome sequencing project: a beginning
1992 StandoutNatureNobel
Detecting the number of clusters of individuals using the software structure : a simulation study
2005 Standout
Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development
1996
Demographic history and linkage disequilibrium in human populations
1997 StandoutNobel
DNA Methylation and Its Basic Function
2012 Standout
Tuberous sclerosis
2008 Standout
The CEPH Consortium Linkage Map of Human Chromosome 13
1993
Molecular cloning and analysis of the fragile X region in man
1991
Evidence That Lymphangiomyomatosis Is Caused by TSC2 Mutations: Chromosome 16p13 Loss of Heterozygosity in Angiomyolipomas and Lymph Nodes from Women with Lymphangiomyomatosis
1998
Epigenetic silencing of PEG3 gene expression in human glioma cell lines*
2001
Candidate gene networks and blood biomarkers of methamphetamine-associated psychosis: an integrative RNA-sequencing report
2016
Characterization of the Human Glutamate Receptor Subunit 3 Gene (GRIA3), a Candidate for Bipolar Disorder and Nonspecific X-Linked Mental Retardation
1999
Revising how the computer program cervus accommodates genotyping error increases success in paternity assignment
2007 Standout
Calumenin, a Ca2+-binding Protein Retained in the Endoplasmic Reticulum with a Novel Carboxyl-terminal Sequence, HDEF
1997 StandoutNobel
Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker
1991 StandoutNobel
Microsatellite analysis of genetic divergence among populations of giant Galápagos tortoises
2002
Mechanisms of trinucleotide repeat instability during human development
2010
Molecular Cloning of the cDNA and Chromosome Localization of the Gene for Human Ubiquitin-conjugating Enzyme 9
1996
Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities
2013 Standout
Ataxia-Telangiectasia:Closer to Unraveling the Mystery
1995
Microsatellites: simple sequences with complex evolution
2004 Standout
Decreased apoptosis in the brain and premature lethality in CPP32-deficient mice
1996 StandoutNature
Loh at 16p 13 is a novel chromosomal alteration detected in benign and malignant microdissected papillary neoplasms of the breast
1998
Genome Duplications and Other Features in 12 Mb of DNA Sequence from Human Chromosome 16p and 16q
1999
Simple sequences
1994
Fragile-X syndrome: unique genetics of the heritable unstable element.
1992
Prostanoid Receptors: Structures, Properties, and Functions
1999 Standout
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1991 Standout
ACC/AHA 2005 Practice Guidelines for the Management of Patients With Peripheral Arterial Disease (Lower Extremity, Renal, Mesenteric, and Abdominal Aortic)
2006 Standout
Magnesium in Man: Implications for Health and Disease
2014 Standout
Supramolecular Hydrogelators and Hydrogels: From Soft Matter to Molecular Biomaterials
2015 Standout
MISA-web: a web server for microsatellite prediction
2017 Standout
Gene for Progressive Familial Heart Block Type I Maps to Chromosome 19q13
1995
Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16.
1995
Fragile X Genotype Characterized by an Unstable Region of DNA
1991 Science
2004 Standout
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
1993 Standout
Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features.
1996
Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.
1995
Global Patterns of Linkage Disequilibrium at the CD4 Locus and Modern Human Origins
1996 StandoutScienceNobel
Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval.
1996
Gene Targeting Approaches to Analyzing Hypertension
1999 StandoutNobel
Inference of Population Structure Using Multilocus Genotype Data: Linked Loci and Correlated Allele Frequencies
2003 Standout
The Marfan Syndrome
2000
Extrahelical (CAG)/(CTG) triplet repeat elements support proliferating cell nuclear antigen loading and MutLα endonuclease activation
2013 StandoutNobel
Anisomastia Associated with Interstitial Duplication of Chromosome 16, Mental Retardation, Obesity, Dysmorphic Facies, and Digital Anomalies: Molecular Mapping of a New Syndrome by Fluorescent in Situ Hybridization and Microsatellites to 16q13 (D16S419-D16S503)*
2000
A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands.
1992 Standout
THE UBIQUITIN SYSTEM
1998 StandoutNobel
Sodium-Potassium-Chloride Cotransport
2000 Standout
Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.
1996
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
2009 StandoutNobel
Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.
1993
Genetic Biomarkers in Hypertrophic Cardiomyopathy
2013
Works of H.M. Kozman being referenced
Addition of MT, D16S10, D16S4, and D16S91 to the linkage map within 16q12.1-q22.1
1991
Integration of Transcript and Genetic Maps of Chromosome 16 at Near-1-Mb Resolution: Demonstration of a “Hot Spot” for Recombination at 16p12
1995
A microsatellite marker within the duplicated D16S79 locus has a null allele: significance for linkage mapping
1993
Genetic Mapping of the Batten Disease Locus (CLN3) to the Interval D16S288-D16S383 by Analysis of Haplotypes and Allelic Association
1994
Fine Genetic Mapping of the Batten Disease Locus (CLN3) by Haplotype Analysis and Demonstration of Allelic Association with Chromosome 16p Microsatellite Loci
1993
Human glandular kallikrein genes: Genetic and physical mapping of the KLK1 locus using a highly polymorphic microsatellite PCR marker
1991
Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1
1994 Nobel
A Linkage Map of Microsatellite Markers on the Human X Chromosome
1994
A PCR-Based Genetic Linkage Map of Human Chromosome 16
1994
Dinucleotide repeat polymorphism at the D16S288 locus
1991
Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia
1992
Regional localisation of a non‐specific X‐linked mental retardation gene (MRX19) to Xp22
1994
Refined genetic localization for central core disease.
1993
Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.
1991
Autosomal dominant distal myopathy: linkage to chromosome 14.
1995
Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.
1991
A New DNA Marker Tightly Linked to the Fragile X Locus ( FRAXA )
1989 Science
Integration of the cytogenetic and genetic linkage maps of human chromosome 16 using 50 physical intervals and 50 polymorphic loci
1993