Citation Impact
Citing Papers
Viral Vector Systems for Gene Therapy: A Comprehensive Literature Review of Progress and Biosafety Challenges
2020
Sirtuins as regulators of metabolism and healthspan
2012 Standout
Nucleotide- and nucleoside-converting ectoenzymes: Important modulators of purinergic signalling cascade
2008 Standout
Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature
1995
Regulation of microRNA biogenesis
2014 Standout
The scent of disease: volatile organic compounds of the human body related to disease and disorder
2011 Standout
Niemann-Pick disease type C
2010 Standout
Mechanisms of sporadic cerebral small vessel disease: insights from neuroimaging
2013 Standout
Virchow-Robin spaces on magnetic resonance images: normative data, their dilatation, and a review of the literature
2006
The adolescent brain and age-related behavioral manifestations
2000 Standout
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Velo‐cardio‐facial syndrome: A review of 120 patients
1993
Dietary and supplementary betaine: acute effects on plasma betaine and homocysteine concentrations under standard and postmethionine load conditions in healthy male subjects
2008
The Glymphatic System: A Beginner’s Guide
2015 Standout
Choline: an essential nutrient for public health
2009 Standout
PROTAC targeted protein degraders: the past is prologue
2022 Standout
Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology
1989
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
1996 Standout
New hypotheses for the health-protective mechanisms of whole-grain cereals: what is beyond fibre?
2010 Standout
Velo‐cardio‐facial syndrome and psychotic disorders: Implications for psychiatric genetics
1994
Energy Metabolism in the Liver
2014 Standout
TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice
2006
Molybdenum cofactor transfer from bacteria to nematode mediates sulfite detoxification
2019 StandoutNobel
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
1996 Standout
SIRT5 Deacetylates Carbamoyl Phosphate Synthetase 1 and Regulates the Urea Cycle
2009
22q11.2 deletion syndrome
2015 Standout
Vitamin B12 transport from food to the body's cells—a sophisticated, multistep pathway
2012
Cystine transporter SLC7A11/xCT in cancer: ferroptosis, nutrient dependency, and cancer therapy
2020 Standout
Betaine in human nutrition
2004
Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity
2006
Hypoxia-inducible factor induces cysteine dioxygenase and promotes cysteine homeostasis in Caenorhabditis elegans
2023 StandoutNobel
Physiological Implications of Hydrogen Sulfide: A Whiff Exploration That Blossomed
2012 Standout
Pharmacotherapy of Pompe disease
2013
Mouse Otx2 functions in the formation and patterning of rostral head.
1995 Standout
Lysosomal activity regulatesCaenorhabditis elegansmitochondrial dynamics through vitamin B12 metabolism
2020 StandoutNobel
SULFUR AMINO ACID METABOLISM: Pathways for Production and Removal of Homocysteine and Cysteine
2004
Mammalian Sirtuins: Biological Insights and Disease Relevance
2010 Standout
Newborn screening for inborn errors of metabolism: a systematic review.
1997
New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat
2009
Screening for hyperglycaemia in pregnancy: a rapid update for the National Screening Committee
2010 StandoutNobel
Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.
1991
Chromosome 22q1l Deletion Syndrome: An Update and Review for the Primary Pediatrician
1997
Age-related changes in the pediatric brain: quantitative MR evidence of maturational changes during adolescence.
1997
Natural product and natural product derived drugs in clinical trials
2014 Standout
Cerebellar atrophy in a patient with velocardiofacial syndrome.
1995
Critical periods of vulnerability for the developing nervous system: evidence from humans and animal models.
2000 Standout
Works of J. E. Wraith being referenced
An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria
2002
Magnetic resonance imaging of the brain, neck and cervical spine in mild hunter's syndrome (mucopolysaccharidoses type II)
1996
Strategies for the treatment of cystathionine β-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years
1998
The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis
2004
Magnetic resonance imaging of the brain in phenylketonuria
1994
Current topic: Ornithine carbamoyltransferase deficiency
2001
Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience
2010
Limitations of enzyme replacement therapy: Current and future
2006
The natural history of Niemann–Pick disease type C in the UK
2007
Velo‐cardio‐facial syndrome presenting as holoprosencephaly
1985
A clinician's view of the mass screening of the newborn for inherited diseases: Current practice and future considerations
1989
Case Report: Second case of a successful pregnancy in maternal isovaleric acidaemia
2003