Citation Impact
Citing Papers
Human Hypertension Caused by Mutations in WNK Kinases
2001 StandoutScience
Selection of optimal alternative graft source: mismatched unrelated donor, umbilical cord blood, or haploidentical transplant
2011
Tumor-reactive CD4+ T cells develop cytotoxic activity and eradicate large established melanoma after transfer into lymphopenic hosts
2010 StandoutNobel
High-Throughput Characterization of 10 New Minor Histocompatibility Antigens by Whole Genome Association Scanning
2010
Systemic 4-1BB activation induces a novel T cell phenotype driven by high expression of Eomesodermin
2013 StandoutNobel
Fc-dependent depletion of tumor-infiltrating regulatory T cells co-defines the efficacy of anti–CTLA-4 therapy against melanoma
2013 StandoutNobel
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
2001 Science
Variable phenotype of familial adenomatous polyposis in pedigrees with 3′ mutation in the APC gene
1998
Identification of a Novel Basic Helix-Loop-Helix–PAS Factor, NXF, Reveals a Sim2 Competitive, Positive Regulatory Role in Dendritic-Cytoskeleton Modulator Drebrin Gene Expression
2003
Fine Localization of the Torsion Dystonia Gene (DYT1) on Human Chromosome 9q34: YAC Map and Linkage Disequilibrium
1997
Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch syndrome)
1996
Huntington's disease
2007 Standout
A class II‐restricted cytotoxic T‐cell clone recognizes a human minor histocompatibility antigen with a restricted tissue distribution
2004
The secretory phospholipase A2 gene is a candidate for the Mom1 locus, a major modifier of ApcMin-induced intestinal neoplasia
1995
EHSH1/Intersectin, a Protein That Contains EH and SH3 Domains and Binds to Dynamin and SNAP-25
1999 StandoutNobel
Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes
2003
Electrical signals control wound healing through phosphatidylinositol-3-OH kinase-γ and PTEN
2006 StandoutNatureNobel
Na+/H+ Exchangers of Mammalian Cells
1997
Exploring the molecular basis of Bardet-Biedl syndrome
2001
Alleles of the APC gene: An attenuated form of familial polyposis
1993
Lessons from Hereditary Colorectal Cancer
1996 Standout
Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura
2001 StandoutNature
Osteoporosis: now and the future
2011 Standout
Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology
2000
Attenuated familial adenomatous polyposis (AFAP) a phenotypically and genotypically distinctive variant of FAP
1995
Genetic Susceptibility for Human Familial Essential Hypertension in a Region of Homology with Blood Pressure Linkage on Rat Chromosome 10
1997 StandoutNobel
Distinct Structural Domains Confer cAMP Sensitivity and ATP Dependence to the Na+/H+ Exchanger NHE3 Isoform
1996
Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci
2001
Two Isoforms of a Human Intersectin (ITSN) Protein Are Produced by Brain-Specific Alternative Splicing in a Stop Codon
1998
G Protein-coupled Receptor Kinase 6A Phosphorylates the Na+/H+ Exchanger Regulatory Factor via a PDZ Domain-mediated Interaction
1999 StandoutNobel
Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
1993 Standout
Colorectal carcinomas in mice lacking the catalytic subunit of PI(3)Kγ
2000 StandoutNatureNobel
Polygenic control of Caenorhabditis elegans fat storage
2006 StandoutNobel
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
1997 Standout
Retinitis pigmentosa
2006 Standout
The Use and Interpretation of CommercialAPCGene Testing for Familial Adenomatous Polyposis
1997
Independent evolution of bitter-taste sensitivity in humans and chimpanzees
2006 Nature
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1
2010
Structure-based Analyses Reveal Distinct Binding Sites for Atg2 and Phosphoinositides in Atg18
2012 StandoutNobel
Nutrition and colorectal cancer
1996
Initial sequence of the chimpanzee genome and comparison with the human genome
2005 StandoutNature
VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P2 in yeast and mouse
2008
The receptors and cells for mammalian taste
2006 StandoutNature
Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease
1998
Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism
2006
An overview of inhibitors of Na+/H+ exchanger
2003
Hereditary Colorectal Cancer
2003 Standout
The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set–recoding and fuzzy inheritance
1995
Suppression of Intestinal Polyposis in ApcΔ716 Knockout Mice by Inhibition of Cyclooxygenase 2 (COX-2)
1996 Standout
Clinical Effect of Point Mutations in Myelodysplastic Syndromes
2011 Standout
T Cell Surveillance of Oncogene-Induced Prostate Cancer Is Impeded by T Cell-Derived TGF-β1 Cytokine
2011 StandoutNobel
Hereditary Gastrointestinal Polyposis and Nonpolyposis Syndromes
1994
β1-Adrenoceptor gene variations: a role in idiopathic dilated cardiomyopathy?
2000
Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: An updated review
1993
Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome
2003
Control of Male Sexual Behavior and Sexual Orientation in Drosophila by the fruitless Gene
1996 StandoutNobel
The hormone resistin links obesity to diabetes
2001 StandoutNature
p63 is a p53 homologue required for limb and epidermal morphogenesis
1999 StandoutNature
A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis
2007 Standout
Distal arthrogryposis type 1: Clinical analysis of a large kindred
1996
Seven-transmembrane-spanning receptors and heart function
2002 StandoutNatureNobel
Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer
1994 StandoutNature
The β2-adrenergic receptor interacts with the Na+/H+-exchanger regulatory factor to control Na+/H+ exchange
1998 StandoutNatureNobel
Mismatch Repair Deficiency in Phenotypically Normal Human Cells
1995 StandoutScienceNobel
Widespread transcription at neuronal activity-regulated enhancers
2010 StandoutNature
The oligogenic properties of Bardet-Biedl syndrome
2004
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.
1994
Environmental and Heritable Factors in the Causation of Cancer — Analyses of Cohorts of Twins from Sweden, Denmark, and Finland
2000 Standout
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching
1996
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
1996
The Calcium-Sensing Receptor: Physiology, Pathophysiology and Car-Based Therapeutics
2007
Hereditary nonpolyposis colorectal cancer (Lynch syndrome): An updated review
1996
Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse
1993
10 Years ofGenomics,Chromosome 21, and Down Syndrome
1998
Shifting the equilibrium in cancer immunoediting: from tumor tolerance to eradication
2011 StandoutNobel
Close Associations between Prevalences of Dominantly Inherited Spinocerebellar Ataxias with CAG-Repeat Expansions and Frequencies of Large Normal CAG Alleles in Japanese and Caucasian Populations
1998
The genetics and natural history of hereditary colon cancer
1997
Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL)
1999
Overweight, Obesity, and Mortality from Cancer in a Prospectively Studied Cohort of U.S. Adults
2003 Standout
Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2
1999
Unraveling the Molecular Pathophysiology of Myelodysplastic Syndromes
2011
Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization
2002 Standout
Acute Myeloid Leukemia
2015 Standout
GENETICS OF NON-INSULIN-DEPENDENT (TYPE-II) DIABETES MELLITUS
1996
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
1999
A genome-wide analysis of immune responses in Drosophila
2001 StandoutNobel
Functional mapping of disease susceptibility loci using cell biology
2006 StandoutNobel
A genome-wide search for type 2 diabetes susceptibility genes in Utah Caucasians.
1999
Mutations in fast skeletal troponin I, troponin T, and β‐tropomyosin that cause distal arthrogryposis all increase contractile function
2006
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
2013 StandoutNobel
A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.
1996
Mitochondrial Diseases in Man and Mouse
1999 StandoutScience
Corin, a Mosaic Transmembrane Serine Protease Encoded by a Novel cDNA from Human Heart
1999
The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.
1997
A family of human receptors structurally related to Drosophila Toll
1998 Standout
Genetic Dissection of Complex Traits
1994 StandoutScience
daf-2 , an Insulin Receptor-Like Gene That Regulates Longevity and Diapause in Caenorhabditis elegans
1997 StandoutScienceNobel
Activation of β-Catenin-Tcf Signaling in Colon Cancer by Mutations in β-Catenin or APC
1997 StandoutScience
Nucleotide Pyrophosphatase Gene Polymorphism Associated With Ossification of the Posterior Longitudinal Ligament of the Spine
2002
Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs.
1995 StandoutNobel
Neoantigens in cancer immunotherapy
2015 StandoutScience
Familial adenomatous polyposis
1997
Dimer formation by an N-terminal coiled coil in the APC protein.
1993
Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice
1999 StandoutNobel
Works of Brith Otterud being referenced
Leukemia-associated minor histocompatibility antigen discovery using T-cell clones isolated by in vitro stimulation of naive CD8+ T cells
2010
Molecular Cloning and Physical and Genetic Mapping of the Human Anion Exchanger Isoform 3 (SLC2C) Gene to Chromosome 2q36
1994
Molecular cloning and physical and genetic mapping of a novel human Na+/H+ exchanger (NHE5/SLC9A5) to chromosome 16q22.1
1995
Genetic linkage of the human gene for phenylethanol-amine N-methyltransferase (PNMT), the adrenaline-synthesizing enzyme, to DNA markers on chromosome 17q21–q22
1992
Genetic mapping of adrenergic receptor genes in humans
1995
Feasibility of using genetic linkage analysis to identify the genes encoding T cell‐defined minor histocompatibility antigens
2002
Genetic analysis of a complex trait in the Utah Genetic Reference Project: a major locus for PTC taste ability on chromosome 7q and a secondary locus on chromosome 16p
2003
The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect
1999
Genetic Mapping of Ossification of the Posterior Longitudinal Ligament of the Spine
1998
Bardet–Biedl syndrome is linked to DNA markers on chromosome 11 q and is genetically heterogeneous
1994
Toward targeting B cell cancers with CD4+ CTLs: identification of a CD19-encoded minor histocompatibility antigen using a novel genome-wide analysis
2008
A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12.
1995
Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity.
1993
Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1.
1996
Description of a Second Microsatellite Marker and Linkage Analysis of the Muscle Glycogen Synthase Locus in Familial NIDDM
1994
Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2
1996
Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.
1996
Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus.
1992
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q.
1995
A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9.
1994