Citation Impact
Citing Papers
Structural basis for the recognition of SARS-CoV-2 by full-length human ACE2
2020 StandoutScience
Single-cell RNA-seq data analysis on the receptor ACE2 expression reveals the potential risk of different human organs vulnerable to 2019-nCoV infection
2020 Standout
Prevalence and Genotypes of α- and β-Thalassemia Carriers in Hong Kong — Implications for Population Screening
1997
Wernicke's encephalopathy: new clinical settings and recent advances in diagnosis and management
2007 Standout
Mendelian randomization: can genetic epidemiology help redress the failures of observational epidemiology?
2007
Ligand-Specific Interactions Modulate Kinetic, Energetic, and Mechanical Properties of the Human β2 Adrenergic Receptor
2012 StandoutNobel
A retrospective study of long‐term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria
2000
… And Know the Place for the First Time**Previously presented at the annual meeting of The American Society of Human Genetics, in San Diego, on October 16, 2001.
2002
Mendelian randomization: genetic anchors for causal inference in epidemiological studies
2014 Standout
Diabetes in Asia
2009 Standout
Living with genetic risk: Effect on adolescent self‐concept
2008
Regulation of intestinal epithelial permeability by tight junctions
2012 Standout
Substrate Binding Tunes Conformational Flexibility and Kinetic Stability of an Amino Acid Antiporter
2009
Reporting Recommendations for Tumor Marker Prognostic Studies (REMARK)
2005 Standout
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
2015 Standout
Sickle-cell disease
2010 Standout
Raising the profile of genetics in primary care
2004
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
2013 Standout
Natural Osmolyte Trimethylamine N-Oxide Corrects Assembly Defects of Mutant Branched-chain α-Ketoacid Decarboxylase in Maple Syrup Urine Disease
2001
Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases
2018 Standout
Identification of deletion and triple α‐globin gene haplotypes in the montreal β‐thalassemia screening program: Implications for genetic medicine
1990
Heterozygote Carrier Testing in High Schools Abroad: What are the Lessons for the U.S.?
2006
Homology requirements for unequal crossing over in humans.
1991 StandoutNobel
Global epidemiology of haemoglobin disorders and derived service indicators
2008 Standout
Amino Acid Transport Across Mammalian Intestinal and Renal Epithelia
2008
Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19
2004
Gut flora metabolism of phosphatidylcholine promotes cardiovascular disease
2011 StandoutNature
Population Screening in the Age of Genomic Medicine
2003
Effects of genetic risk information on children's psychosocial wellbeing: A systematic review of the literature
2010
Global metabolic profiling procedures for urine using UPLC–MS
2010 Standout
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
2006 Standout
A protein complex in the brush‐border membrane explains a Hartnup disorder allele
2008
A Systematic Review of Molecular and Biological Tumor Markers in Neuroblastoma
2004
Cholesterol increases kinetic, energetic, and mechanical stability of the human β2-adrenergic receptor
2012 StandoutNobel
Experiential Learning : Experience as the Source of Learning and Development
1983 Standout
Carrier Testing of Children for Two X-Linked Diseases: A Retrospective Study of Comprehension of the Test Results and Social and Psychological Significance of the Testing
2000
Newborn screening for inborn errors of metabolism: a systematic review.
1997
GENETIC SCREENING: Carriers and Affected Individuals
2004
Screening for hyperglycaemia in pregnancy: a rapid update for the National Screening Committee
2010 StandoutNobel
Strategy linking several analytical methods of neonatal screening for sickle cell disease
2001
Clinical Chemistry of Thiamin
1983
A systematic review and evaluation of the use of tumour markers in paediatric oncology: Ewing's sarcoma and neuroblastoma
2003
2014
Profiling of human body fluids in healthy and diseased states using gas chromatography and mass spectrometry, with special reference to organic acids
1977
Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews
2012
Works of C Clow being referenced
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn
1988
Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools.
1996
What young people think and do when the option for cystic fibrosis carrier testing is available.
1993
Beta-thalassemia disease prevention: genetic medicine applied.
1984
The Hartnup phenotype: Mendelian transport disorder, multifactorial disease.
1987
THIAMINE-RESPONSIVE MAPLE-SYRUP-URINE DISEASE
1971
Cystic fibrosis carrier screening by DNA analysis: a pilot study of attitudes among participants.
1991
Newborn screening for sickle cell and other hemoglobinopathies: a Canadian pilot study.
1992
Feasibility of chemical screening of urine for neuroblastoma case finding in infancy in Quebec.
1987
Maple syrup urine disease: Interrelations between branched‐chain amino‐, oxo‐ and hydroxyacids; implications for treatment; associations with CNS dysmyelination
1991
On the screening, diagnosis and investigation of hereditary aminoacidopathies
1973