Citation Impact
Citing Papers
Palladium‐Catalyzed Cross‐Coupling Reactions in Total Synthesis
2005 Standout
Extracorporeal Membrane Oxygenation in Pregnancy
2006
Man Bites Mosquito: Understanding the Contribution of Human Movement to Vector-Borne Disease Dynamics
2009
Best practice guidelines for molecular analysis in spinal muscular atrophy
2001
The hidden effect of time
1988
Population frequencies of inherited neuromuscular diseases—A world survey
1991 Standout
Management of acute organophosphorus pesticide poisoning
2007 Standout
Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome
2003 StandoutNature
mRNA-based therapeutics — developing a new class of drugs
2014 StandoutNobel
Are research ethics committees behaving unethically? Some suggestions for improving performance and accountability: Fig 1
1996
Identification and characterization of a spinal muscular atrophy-determining gene
1995 Standout
Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy
2002 Standout
Current issue in tourism: The evolution of travel medicine research: A new research agenda for tourism?
2008
Cushing's syndrome
2015 Standout
Preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) 2015: elaboration and explanation
2015 Standout
Exclusion of Htra2-β1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy
2000
Gestational trophoblastic disease
2010 Standout
Botulinum Toxin as a Biological Weapon
2001 Standout
Comparing methods of measurement: why plotting difference against standard method is misleading
1995 Standout
The muscular dystrophies
2002 Standout
The SMN–SIP1 Complex Has an Essential Role in Spliceosomal snRNP Biogenesis
1997
Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study
2002 Standout
Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein
1993 Standout
Guidelines for Controlled Trials of Drugs in Migraine: Second Edition
2000
Ciguatera: recent advances but the risk remains
2000
Analysis of Missed Cases of Abusive Head Trauma
1999 Standout
Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology
2006 StandoutNobel
Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14
1990
Ten-year survival of Down syndrome births
1997
meta-analysis bias in location and selection of studies
1998
Patterns and problems of deliberate self-poisoning in the developing world
2000
SMN Is Required for Sensory-Motor Circuit Function in Drosophila
2012
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
1999
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
2016 Standout
Influence of paternal age, smoking, and alcohol consumption on congenital anomalies
1991
Calcitonin Gene–Related Peptide Receptor Antagonist BIBN 4096 BS for the Acute Treatment of Migraine
2004 Standout
A Wolbachia Symbiont in Aedes aegypti Limits Infection with Dengue, Chikungunya, and Plasmodium
2009 Standout
Human resources for health in southeast Asia: shortages, distributional challenges, and international trade in health services
2011 Standout
Functional genomic analysis of C. elegans chromosome I by systematic RNA interference
2000 StandoutNature
Use of Automated External Defibrillators by a U.S. Airline
2000
Regulation of mRNA decapping
2010
The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: explanation and elaboration
2009 Standout
Blast Injuries
2005 Standout
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy
2000
Outcomes of Rapid Defibrillation by Security Officers after Cardiac Arrest in Casinos
2000 Standout
Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number
1997
Migraine — Current Understanding and Treatment
2002 Standout
An ~140-kb deletion associated with feline spinal muscular atrophy implies an essentialLIX1function for motor neuron survival
2006
Spinal Muscular Atrophy: From Gene to Therapy
2006
The survival motor neuron protein in spinal muscular atrophy
1997
Molecular Analysis of the SMN and NAIP Genes in Spanish Spinal Muscular Atrophy (SMA) Families and Correlation between Number of Copies ofcBCD541 and SMA Phenotype
1996
Genome-Scale Identification of SARS-CoV-2 and Pan-coronavirus Host Factor Networks
2020 StandoutNobel
The psychosocial aspects of children exposed to war: practice and policy initiatives
2004
Assessment of multiplex fluorescent PCR for screening single cells for trisomy 21 and single gene defects
1999
Ethics in Exercise Science Research*
2002
An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA)
2000
A Six-Year-Old Girl with Tick Paralysis
2000
Child development: risk factors for adverse outcomes in developing countries
2007 Standout
The Noncoding RNA Revolution—Trashing Old Rules to Forge New Ones
2014 Standout
Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice
1994 Standout
Down's syndrome
2003 Standout
Massive Neonatal Adrenal Enlargement Due to Cytomegaly, Persistence of the Transient Cortex, and Hyperplasia of the Permanent Cortex
2012
Mortality in Down’s syndrome in relation to congenital malformations
1999
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3
1990 Nature
Molecular genetics and genetic counselling for Duchenne/Becker muscular dystrophy
1993
Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function
2005
The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate healthcare interventions: explanation and elaboration
2009 Standout
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
1991 StandoutNature
Incidence and aetiology of hydatidiform mole: an epidemiological review
1987
TMEM41B Is a Pan-flavivirus Host Factor
2020 StandoutNobel
Bias in meta-analysis detected by a simple, graphical test
1997 Standout
Genetic homogeneity between acute and chronic forms of spinal muscular atrophy
1990 Nature
The evolution of gene expression levels in mammalian organs
2011 StandoutNatureNobel
The PRISMA Statement for Reporting Systematic Reviews and Meta-Analyses of Studies That Evaluate Health Care Interventions: Explanation and Elaboration
2009 Standout
Climate change and human health: present and future risks
2006 Standout
Part 15: First Aid
2015
Guidelines for the Early Management of Patients With Acute Ischemic Stroke
2013 Standout
Covert Video Recordings of Life-threatening Child Abuse: Lessons for Child Protection
1997
Oxidants, antioxidants, and the degenerative diseases of aging.
1993 Standout
Down Syndrome
2020 Standout
Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling.
1985
Interstitial deletion of distal 13q associated with Hirschsprung's disease.
1989
A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure
1983
The role of neurotransmitters in the development of Parkinson's disease‐related psychosis
2017
Homozygosity Mapping: A Way to Map Human Recessive Traits with the DNA of Inbred Children
1987 Science
The evolution of cultural adaptations: Fijian food taboos protect against dangerous marine toxins
2010
Diagnosis and Treatment of Parkinson Disease
2020 Standout
Early death and causes of death of people with Down syndrome: A systematic review
2018
Extracorporeal Membrane Oxygenation for 2009 Influenza A(H1N1) Acute Respiratory Distress Syndrome
2009 Standout
Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation
1997 Standout
Global food security under climate change
2007 Standout
De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular Atrophies
1994 Science
A Functional Interaction between the Survival Motor Neuron Complex and RNA Polymerase II
2001
The cultural niche: Why social learning is essential for human adaptation
2011 Standout
X-linked recessive bulbospinal neuronopathy: a report of ten cases.
1982
A novel nuclear structure containing the survival of motor neurons protein.
1996
Survival of infants born with Down’s syndrome: 1980–96
2000
Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.
1994
A Targeted Bypass Screen Identifies Ynl187p, Prp42p, Snu71p, and Cbp80p for Stable U1 snRNP/Pre-mRNA Interaction
2009 StandoutNobel
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
1999
legless insertional mutation: morphological, molecular, and genetic characterization.
1991
HARMFUL ALGAL BLOOMS : An Emerging Public Health Problem with Possible Links to Human Stress on the Environment
1999
Nuclear repartitioning of galectin-1 by an extracellular glycan switch regulates mammary morphogenesis
2016 StandoutNobel
The PRISMA Statement for Reporting Systematic Reviews and Meta-Analyses of Studies That Evaluate Health Care Interventions: Explanation and Elaboration
2009 Standout
A tumor profile in Down syndrome
1998
Spinal muscular atrophy: Diagnosis and management in a new therapeutic era
2014
Publication and non-publication of clinical trials: longitudinal study of applications submitted to a research ethics committee
2008
Epidemiology of Terror-Related Versus Non-Terror-Related Traumatic Injury in Children
2003
Htra2-β 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 ( SMN2 )
2000
When Is a Deletion Not a Deletion? When It Is Converted
1997
A hungarian study on Werdnig-Hoffmann disease.
1989
Tetrahedron perspective number 2
1994
Natural History in Proximal Spinal Muscular Atrophy
1995
Works of John Pearn being referenced
Accidental poisoning in childhood: five year urban population study with 15 year analysis of fatality.
1984
Publish and be applauded
1996
Ciguatera: Dilemmas in clinical recognition, presentation and management
1994
Children and war†
2003
Primer of Travel Medicine
2004
Ciguatera poisoning: an example of a public health challenge
1998
Publication: an ethical imperative
1995
The earliest days of first aid
1994
Jules Cotard (1840–1889)
2002
Autosomal dominant spinal muscular atrophy
1978
THE USE OF MOTOR MILESTONES TO DETERMINE RETROSPECTIVELY THE CLINICAL ONSET OF DISEASE
1974
The ring chromosome 13 syndrome
1982
CLASSIFICATION OF SPINAL MUSCULAR ATROPHIES
1980
The Gene Frequency of Acute Werdnig-Hoffmann Disease (SMA Type 1). A Total Population Survey in North-East England
1973
Ciguatera and pregnancy
1982
Neuromuscular paralysis caused by tick envenomation
1977
The use of field-inversion gel electrophoresis for deletion detection in Duchenne muscular dystrophy.
1988
A clinical study of chronic childhood spinal muscular atrophy
1978
Infantile motor neuron diseases.
1982
Teratogens and the male An analysis with special reference to herbicide exposure
1983
THE GENETIC IDENTITY OF ACUTE INFANTILE SPINAL MUSCULAR ATROPHY
1973
A Clinical and Genetic Study of Spinal Muscular Atrophy of Adult Onset: The Autosomal Recessive Form as a Discrete Disease Entity
1978
Non-accidental immersion in bathwater: another aspect of child abuse.
1977
Chronic generalized spinal muscular atrophy of infancy and childhood: Arrested Werdnig-Hoffmann disease
1973
Ciguatera in Australia: Occurrence, clinical features, pathophysiology and management
1986
Manifestations and natural history of idiopathic hemihypertrophy: a review of eleven cases
1984
A genetic study of subacute and chronic spinal muscular atrophy in childhood
1978
Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy.
1978
Childhood deaths in Down's syndrome. Survival curves and causes of death from a total population study in Queensland, Australia, 1976 to 1985.
1989
Ciguatera and mannitol: experience with a new treatment regimen
1989
Prenatal cytogenetic diagnosis — a current audit: A review of 2000 cases of prenatal cytogenetic diagnoses after amniocentesis, and Comparisons With early experience
1987
FIRST AID IN THE AIR
1996
Arthropods and Disease: The Evolution of Knowledge about Vector-Borne Disease
2004