Citation Impact
Citing Papers
The Caenorhabditis elegans vulval morphogenesis gene sqv - 4 encodes a UDP-glucose dehydrogenase that is temporally and spatially regulated
2002 StandoutNobel
TFEB Links Autophagy to Lysosomal Biogenesis
2011 StandoutScience
Phosphorylation of ULK1 (hATG1) by AMP-Activated Protein Kinase Connects Energy Sensing to Mitophagy
2010 StandoutScience
Reactive Oxygen Species in Inflammation and Tissue Injury
2013 Standout
The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins
2001
Defects of B-cell lymphopoiesis and bone-marrow myelopoiesis in mice lacking the CXC chemokine PBSF/SDF-1
1996 StandoutNature
Cntnap2 is disrupted in a family with gilles de la tourette syndrome and obsessive compulsive disorder
2003
An Olfactory Sensory Map in the Fly Brain
2000 StandoutNobel
Deletion of Autophagy-related 5 (Atg5) and Pik3c3 Genes in the Lens Causes Cataract Independent of Programmed Organelle Degradation
2013
Cell-cycle checkpoints and cancer
2004 StandoutNature
The Role of POU Domain Proteins in the Regulation of Mammalian Pituitary and Nervous System Development
1999
Huntington's disease
2007 Standout
Genetic instabilities in human cancers
1998 StandoutNature
ATM: from gene to function
1998
The lymphocyte chemoattractant SDF-1 is a ligand for LESTR/fusin and blocks HIV-1 entry
1996 StandoutNature
The ground state of embryonic stem cell self-renewal
2008 StandoutNature
Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses
1999
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Traffic Signals on Endothelium for Lymphocyte Recirculation and Leukocyte Emigration
1995
Targeting selectins and selectin ligands in inflammation and cancer
2007
Genetic defects in the human glycome
2006
A New Type of Carbohydrate-deficient Glycoprotein Syndrome Due to a Decreased Import of GDP-fucose into the Golgi
1999
Protein glycosylation
1993
Thrombin signalling and protease-activated receptors
2000 StandoutNature
Decoding ALS: from genes to mechanism
2016 StandoutNature
Susceptibility to Infection and Altered Hematopoiesis in Mice Deficient in Both P- and E-Selectins
1996
The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter
2001
Genetic analysis of integrin function in man: LAD-1 and other syndromes
2000
High Rates of Schizophrenia in Adults With Velo-Cardio-Facial Syndrome
1999
DFNA5, a Gene Involved in Hearing Loss and Cancer: A Review
2012
Neutrophil adhesion in leukocyte adhesion deficiency syndrome type 2.
1995
TRP channels as cellular sensors
2003 StandoutNature
ATM: Genome stability, neuronal development, and cancer cross paths
2001
Leukocyte-Endothelial Cell Interactions – Lessons from Knockout Mice
1999
Genome‐scale identification of UDP‐GlcNAc‐dependent pathways
2008
A gene expression atlas of the central nervous system based on bacterial artificial chromosomes
2003 StandoutNature
Genome maintenance mechanisms for preventing cancer
2001 StandoutNature
A TRP Channel that Senses Cold Stimuli and Menthol
2002 StandoutNobel
Gene defect in ectodermal dysplasia implicates a death domain adapter in development
2001 Nature
p62 expression and autophagy in αB-crystallin R120G mutant knock-in mouse model of hereditary cataract
2013
Crystallin γB-I4F Mutant Protein Binds to α-Crystallin and Affects Lens Transparency
2005 StandoutNobel
The PtdIns(3,4)P2 phosphatase INPP4A is a suppressor of excitotoxic neuronal death
2010 StandoutNatureNobel
X‐ray‐induced chromatid damage in relation to dna repair and cancer incidence in family members
1993
The Odor Specificities of a Subset of Olfactory Receptor Neurons Are Governed by Acj6, a POU-Domain Transcription Factor
1999
p63 is a p53 homologue required for limb and epidermal morphogenesis
1999 StandoutNature
DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation
2003 StandoutNature
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO)
2000
The Hallmarks of Aging
2013 Standout
The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene
1993 Standout
Integrins
2002 Standout
22q11.2 deletion syndrome
2015 Standout
Molecular Cloning of a Novel Putative Ca2+Channel Protein (TRPC7) Highly Expressed in Brain
1998
10 Years ofGenomics,Chromosome 21, and Down Syndrome
1998
A role for sialyl Lewis-X/A glycoconjugates in capillary morphogenesis
1993 Nature
TMEM41B Is a Pan-flavivirus Host Factor
2020 StandoutNobel
Catechol-o-Methyltransferase, Cognition, and Psychosis: Val158Met and Beyond
2006
Chemotherapy drugs induce pyroptosis through caspase-3 cleavage of a gasdermin
2017 StandoutNature
TBC1D20 mediates autophagy as a key regulator of autophagosome maturation
2016
Activity of the Caenorhabditis elegans UNC-86 POU transcription factor modulates olfactory sensitivity
2003 StandoutNobel
A mutation of Ikbkg causes immune deficiency without impairing degradation of IκBα
2010 StandoutNobel
A catechol- O -methyltransferase that is essential for auditory function in mice and humans
2008 StandoutNobel
Metabolic cross-talk allows labeling of O-linked β- N -acetylglucosamine-modified proteins via the N -acetylgalactosamine salvage pathway
2011 StandoutNobel
A Strategy for the Chemoselective Synthesis of O-Linked Glycopeptides with Native Sugar−Peptide Linkages
1997 StandoutNobel
In Vivo Imaging of Membrane-Associated Glycans in Developing Zebrafish
2008 StandoutScienceNobel
Lymphocyte Homing and Homeostasis
1996 StandoutScience
SQV-7, a protein involved in Caenorhabditis elegans epithelial invagination and early embryogenesis, transports UDP-glucuronic acid, UDP- N - acetylgalactosamine, and UDP-galactose
2001 StandoutNobel
Mitochondrial DNA Mutations, Oxidative Stress, and Apoptosis in Mammalian Aging
2005 StandoutScience
Membrane proteomics of phagosomes suggests a connection to autophagy
2008 StandoutNobel
Pore-forming activity and structural autoinhibition of the gasdermin family
2016 StandoutNature
Response : Neutrophilia in Mice that Lack the Murine IL-8 Receptor Homolog
1995 Science
Cell Cycle Control and Cancer
1994 StandoutScienceNobel
THE GENETIC DEFECT IN ATAXIA-TELANGIECTASIA
1997
The deafness gene DFNA5 induces programmed cell death through mitochondria and MAPK-related pathways
2015
Activation of the ATM Kinase by Ionizing Radiation and Phosphorylation of p53
1998 StandoutScience
Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21
1990 StandoutScience
Of Man and Mouse: Leukocyte and Endothelial Adhesion Molecule Deficiencies
1999
A Chemical Reporter Strategy to Probe Glycoprotein Fucosylation
2006 StandoutNobel
Imaging the glycome
2008 StandoutNobel
Fmoc-Based Synthesis of Peptide-αThioesters: Application to the Total Chemical Synthesis of a Glycoprotein by Native Chemical Ligation
1999 StandoutNobel
Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
2012 StandoutNobel
Endothelial cells in physiology and in the pathophysiology of vascular disorders.
1998 Standout
Requirement of Vascular Integrin α v β 3 for Angiogenesis
1994 StandoutScience
Exclusion of the retinoblastoma gene and chromosome 13q as the site of a primary lesion for human breast cancer.
1990
Fucose: biosynthesis and biological function in mammals
2003
Infectious susceptibility and severe deficiency of leukocyte rolling and recruitment in E-selectin and P-selectin double mutant mice.
1996
Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review
2006
Understanding the Warburg Effect: The Metabolic Requirements of Cell Proliferation
2009 StandoutScience
ATAXIA-TELANGIECTASIA AND THE NIJMEGEN BREAKAGE SYNDROME: Related Disorders But Genes Apart
1997
Chemical Glycoproteomics
2016 StandoutNobel
Autophagy in Health and Disease: A Double-Edged Sword
2004 StandoutScience
Works of Moshe Frydman being referenced
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.
1996
Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts
2011
Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer--Giedion syndrome
1995
Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue
2000
G2 chromosomal radiosensitivity in families with ataxia-telangiectasia
1989
Rambam–Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and bombay phenotype
1992
Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel
1998
Recurrent Severe Infections Caused by a Novel Leukocyte Adhesion Deficiency
1992
Different phenotypic expression in monozygotic twins with Huntington disease
2003
Obsessive‐compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome
2003
Association of the low-activity COMT 158Met allele with ADHD and OCD in subjects with velocardiofacial syndrome
2006
Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51
2010
The ATC (ataxia-telangiectasia complementation group C) locus localizes to 11q22–q23
1991
Predictive testing for Wilson's disease using tightly linked and flanking DNA markers
1991
Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13.
1987
Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.
1985
Velocardiofacial manifestations and microdeletions in schizophrenic inpatients.
1997
Velocardiofacial manifestations and microdeletions in schizophrenic inpatients
1997
A Nonsense Mutation in the Glucosaminyl (N-acetyl) Transferase 2 Gene (GCNT2): Association with Autosomal Recessive Congenital Cataracts
2004
A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.
2000
Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans
1998 Science
Eight closely linked loci place the Wilson disease locus within 13q14-q21.
1988
Definitive Evidence for an Autosomal Recessive Form of Hypohidrotic Ectodermal Dysplasia Clinically Indistinguishable rom the More Common X-Linked Disorde
1997