Citation Impact
Citing Papers
Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons
2008 StandoutScience
Chromosome Abnormalities and Genetic Counseling
2011
Single-nucleus transcriptomics reveals functional compartmentalization in syncytial skeletal muscle cells
2020
The role of fragile X mental retardation protein in major mental disorders
2010
American Society of Clinical Oncology 2007 Update of Recommendations for the Use of Tumor Markers in Breast Cancer
2007 Standout
High-throughput muscle fiber typing from RNA sequencing data
2022 StandoutNobel
lincRNAs: Genomics, Evolution, and Mechanisms
2013 Standout
Parkinson disease
2017 Standout
A new frontier for molecular medicine: Noncoding RNAs
2005
Cntnap2 is disrupted in a family with gilles de la tourette syndrome and obsessive compulsive disorder
2003
Eukaryotic regulatory RNAs: an answer to the ‘genome complexity’ conundrum
2007
Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets
2010
A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31‐q14.3
2010 StandoutNobel
Mitochondria: Dynamic Organelles in Disease, Aging, and Development
2006 Standout
Pathological roles of MAPK signaling pathways in human diseases
2010 Standout
Clonal analyses and gene profiling identify genetic biomarkers of the thermogenic potential of human brown and white preadipocytes
2015
The Nuclear-Retained Noncoding RNA MALAT1 Regulates Alternative Splicing by Modulating SR Splicing Factor Phosphorylation
2010 Standout
Emerging pathways for hereditary axonopathies
2005
Evaluation of AGR2 and AGR3 as candidate genes for inflammatory bowel disease
2005
Amyotrophic lateral sclerosis
2011 Standout
Gene prioritization through genomic data fusion
2006
CPC: assess the protein-coding potential of transcripts using sequence features and support vector machine
2007 Standout
The STRING database in 2017: quality-controlled protein–protein association networks, made broadly accessible
2016 Standout
Disruption of an Evolutionarily Novel Synaptic Expression Pattern in Autism
2016 StandoutNobel
The Axon Guidance Receptor Gene ROBO1 Is a Candidate Gene for Developmental Dyslexia
2005
Focus on mammalian thioredoxin reductases — Important selenoproteins with versatile functions
2009
Neurosteroid regulation of central nervous system development
2007
Biological roles of glycans
2016 Standout
RNAi screening for fat regulatory genes with SRS microscopy
2011 StandoutNobel
Four-and-a-Half LIM Domain Proteins Inhibit Transactivation by Hypoxia-inducible Factor 1
2012 StandoutNobel
Variations on an inhibitory theme: phasic and tonic activation of GABAA receptors
2005 Standout
Mutation screening of X‐chromosomal neuroligin genes: No mutations in 196 autism probands
2004
Dynamics and functions of lipid droplets
2018 Standout
DNA Methylation and Its Basic Function
2012 Standout
Brown adipose tissue thermogenic adaptation requires Nrf1-mediated proteasomal activity
2018 StandoutNobel
Mechanisms linking obesity to insulin resistance and type 2 diabetes
2006 StandoutNature
Distinguishing Protein-Coding from Non-Coding RNAs through Support Vector Machines
2006
Neuroligin-1 Deletion Results in Impaired Spatial Memory and Increased Repetitive Behavior
2010 StandoutNobel
Comprehensive Proteomic Analysis of Breast Cancer Cell Membranes Reveals Unique Proteins with Potential Roles in Clinical Cancer
2003
The thioredoxin antioxidant system
2013 Standout
Coming of age: ten years of next-generation sequencing technologies
2016 Standout
Analysis of the Set of GABAA Receptor Genes in the Human Genome
2004
Disruption of Paneth and goblet cell homeostasis and increased endoplasmic reticulum stress in Agr2−/− mice
2009 StandoutNobel
Adipocyte differentiation from the inside out
2006 Standout
Genetics of Type 2 diabetes
2005
Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy
2009
Identification and Characterization of Multi-Species Conserved Sequences
2003
Genome-wide association studies for common diseases and complex traits
2005 Standout
Health Supervision for Children With Down Syndrome
2011 Standout
Evolution and Functions of Long Noncoding RNAs
2009 Standout
The Neurobiological Context of Autism
2003
Galaxy: A platform for interactive large-scale genome analysis
2005 Standout
Molecular biology of amyotrophic lateral sclerosis: insights from genetics
2006
22q11.2 deletion syndrome
2015 Standout
A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export
2009 StandoutNobel
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
2005 Standout
Long noncoding RNAs: functional surprises from the RNA world
2009 Standout
Evolution of primate gene expression
2006 StandoutNobel
Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients
2008
ToppGene Suite for gene list enrichment analysis and candidate gene prioritization
2009 Standout
The Genetics of Autism
2004
Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast
2008
Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism
2000
Genetic Basis of Lipodystrophies and Management of Metabolic Complications
2006
A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells
2012 Standout
Seipin performs dissectible functions in promoting lipid droplet biogenesis and regulating droplet morphology
2014
Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy
2008
The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology
2007
STAMS: STRING-assisted module search for genome wide association studies and application to autism
2016
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
Long oligonucleotide microarrays for African green monkey gene expression profile analysis
2007 StandoutNobel
Epigenetic Signatures of Autism
2011
The Heritability of Language: A Review and Metaanalysis of Twin, Adoption, and Linkage Studies
2001
Neuroactive steroids reduce neuronal excitability by selectively enhancing tonic inhibition mediated by δ subunit-containing GABA A receptors
2003
Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
2012 StandoutNobel
Seipin Is a Discrete Homooligomer
2010
Incongruent Expression Profiles between Human and Mouse Orthologous Genes Suggest Widespread Neutral Evolution of Transcription Control
2004
2016
Autismo e doenças invasivas de desenvolvimento
2004 Standout
Works of Erwin Petek being referenced
Disruption of a Novel Gene (IMMP2L) by a Breakpoint in 7q31 Associated with Tourette Syndrome
2001
Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies
2003
Identification of the Human Cortactin-Binding Protein-2 Gene from the Autism Candidate Region at 7q31
2001
An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1
2008
Localization<footref rid="foot01"><sup>1</sup></footref> of the human anterior gradient-2 gene (AGR2) to chromosome band 7p21.3 by radiation hybrid mapping and fluorescencein situ hybridisation
2000
Molecular characterization of a 12q22‐q24 deletion associated with congenital deafness: Confirmation and refinement of the DFNA25 locus
2002
Phenotype of five patients with Greig syndrome and microdeletion of 7p13
2001
Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1)
2008
The RAY1/ST7 Tumor-Suppressor Locus on Chromosome 7q31 Represents a Complex Multi-transcript System
2002
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
2004
The human γ-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression
2002
Candidate region for Gilles de la Tourette syndrome at 7q31
2001
Isolation of Site-Specific Insert Probes from Chimeric YACs
1997