Citation Impact
Citing Papers
Complement Factor H Polymorphism and Age-Related Macular Degeneration
2005 StandoutScience
Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
2003 Standout
Finishing the euchromatic sequence of the human genome
2004 StandoutNature
HLA Match Likelihoods for Hematopoietic Stem-Cell Grafts in the U.S. Registry
2014 Standout
Kidney stones: pathophysiology and medical management
2006 Standout
A High-Resolution STS, EST, and Gene-Based Physical Map of the Hereditary Paraganglioma Region on Chromosome 11q23
1997
A Genetic Linkage Map of the Baboon (Papio hamadryas) Genome Based on Human Microsatellite Polymorphisms
2000
Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination
1998
Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis
1998 StandoutNobel
A single homeodomain binding site restricts spatial expression of Wnt-1 in the developing brain
1995
Pathogenesis and therapy of psoriasis
2007 StandoutNature
Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein
2001 StandoutNobel
Evaluation of the calcium-sensing receptor gene in idiopathic hypercalciuria and calcium nephrolithiasis
2000
Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons
1994 Standout
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
1995 Standout
A comprehensive genetic map of the human genome based on 5,264 microsatellites
1996 StandoutNature
The Human Genome Browser at UCSC
2002 Standout
A genome-wide search for human type 1 diabetes susceptibility genes
1994 Nature
A Detailed Physical and Transcriptional Map of the Region of Chromosome 20 That Is Deleted in Myeloproliferative Disorders and Refinement of the Common Deleted Region
1998
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
2001 StandoutNature
The 1993–94 Généthon human genetic linkage map
1994 Standout
A New Locus for Arrhythmogenic Right Ventricular Dysplasia on the Long Arm of Chromosome 14
1996
Inflammatory bowel disease: cause and immunobiology
2007 Standout
Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura
2001 StandoutNature
Hippo Pathway in Organ Size Control, Tissue Homeostasis, and Cancer
2015 Standout
DNA sequence variation in a non-coding region of low recombination on the human X chromosome
1999 StandoutNobel
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
1998 Standout
Chromosomes, 11q and cancer: a review
1999
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
Why do human diversity levels vary at a megabase scale?
2005 StandoutNobel
TEAD mediates YAP-dependent gene induction and growth control
2008 Standout
Demographic history and linkage disequilibrium in human populations
1997 StandoutNobel
Linkage of Inflammatory Bowel Disease to Human Chromosome 6p
1999
A New Statistical Method for Haplotype Reconstruction from Population Data
2001 Standout
The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set–recoding and fuzzy inheritance
1995
Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population.
1995 Standout
A Genomewide Analysis Provides Evidence for Novel Linkages in Inflammatory Bowel Disease in a Large European Cohort
1999
Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results
1995 Standout
Improved Inference of Relationship for Pairs of Individuals
2000
Neuroblastoma
2007 Standout
Variance component model to account for sample structure in genome-wide association studies
2010 Standout
Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer
1998 StandoutNature
Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice
1994 Standout
A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration)
2004
XBP1 Links ER Stress to Intestinal Inflammation and Confers Genetic Risk for Human Inflammatory Bowel Disease
2008 Standout
Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
2001 Standout
Development of a panel of monochromosomal somatic cell hybrids for rapid gene mapping
1995
Age-related Macular Degeneration
1998
Suggestive Evidence for a Susceptibility Gene Near the Vitamin D Receptor Locus in Idiopathic Calcium Stone Formation
1999
Linkage disequilibrium mapping of a type 1 diabetes susceptibility gene (IDDM7) to chromosome 2q31–q33
1995
European Gene Mapping Project(EUROGEM): Genetic Maps basedon the CEPH reference families
1994 Nobel
A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease
1994
The 1 alpha-hydroxylase locus is not linked to calcium stone formation or calciuric phenotypes in French-Canadian families.
1998
Fine mapping of the chromosome 3p susceptibility locus in inflammatory bowel disease
2001
Impaired TGF-β Responses in Peripheral T Cells of Gαi2−/− Mice
2005 StandoutNobel
Gene for Familial Psoriasis Susceptibility Mapped to the Distal End of Human Chromosome 17q
1994 Science
Arlequin (version 3.0): an integrated software package for population genetics data analysis.
2007 Standout
Functional mapping of disease susceptibility loci using cell biology
2006 StandoutNobel
A Gene Conferring Susceptibility to Type 2 Diabetes in Conjunction With Obesity Is Located on Chromosome 18p11
2001
Chance and Necessity in the Selection of Nucleic Acid Catalysts
1996 StandoutNobel
A genome-wide search for type 2 diabetes susceptibility genes in Utah Caucasians.
1999
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
2000 Standout
Population genetics of dinucleotide (dC-dA)n.(dG-dT)n polymorphisms in world populations.
1995
Global Patterns of Linkage Disequilibrium at the CD4 Locus and Modern Human Origins
1996 StandoutScienceNobel
Direct pKa Measurement of the Active-Site Cytosine in a Genomic Hepatitis Delta Virus Ribozyme
2001 StandoutNobel
Genetic Dissection of Complex Traits
1994 StandoutScience
A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3.
1995
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
2011 Standout
Mechanisms of Diabetic Complications
2013 Standout
A multidrug resistance transporter from human MCF-7 breast cancer cells
1998 Standout
Inference of Population Structure Using Multilocus Genotype Data: Linked Loci and Correlated Allele Frequencies
2003 Standout
EXCLUSION MAPPING OF MAJOR CRYSTALLIZATION INHIBITORS IN IDIOPATHIC CALCIUM UROLITHIASIS
2001
Identification of an evolutionarily conserved 110 base-pair cis-acting regulatory sequence that governs Wnt-1 expression in the murine neural plate
1998 StandoutNobel
Cloning of the cDNA for a human homologue of the Drosophila white gene and mapping to chromosome 21q22.3.
1996
Mutations in SDHD , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma
2000 StandoutScience
The Structure of Haplotype Blocks in the Human Genome
2002 StandoutScience
The Human Genome Project: Reaching the Finish Line
1998 StandoutScienceNobel
Signatures of Population Expansion in Microsatellite Repeat Data
1998
Genetic relationship of populations in China
1998 Standout
Works of Mark W. Perlin being referenced
Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map
1994
Rapid Construction of Integrated Maps Using Inner Product Mapping: YAC Coverage of Human Chromosome 11
1995
Using Quality Measures to Facilitate Allele Calling in High-Throughput Genotyping
1999
Toward fully automated genotyping: allele assignment, pedigree construction, phase determination, and recombination detection in Duchenne muscular dystrophy.
1994