Citation Impact
Citing Papers
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
2014 Standout
Chromosome Abnormalities and Genetic Counseling
2011
Paper-based microfluidic point-of-care diagnostic devices
2013 Standout
Maternal Uniparental Isodisomy of Human Chromosome 14 Associated with a Paternal t(13q14q) and Precocious Puberty
1996
Genetics of autism spectrum disorders
2011
Integrated regional genetic services: current and future provisionCommentary: The future development of regional genetic services will rely on partnerships
2001
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Disruption of an Evolutionarily Novel Synaptic Expression Pattern in Autism
2016 StandoutNobel
Provision of genetic services in Europe: current practices and issues
2003
Oxidative stress in autosomal dominant polycystic kidney disease: player and/or early predictor for disease progression?
2018
Estimates of penetrance for recurrent pathogenic copy-number variations
2012
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
2015 Standout
Oxidative stress in chronic kidney disease
2018 Standout
CYP2C8*3 increases risk of neuropathy in breast cancer patients treated with paclitaxel
2013
Autism
2013 Standout
Coming of age: ten years of next-generation sequencing technologies
2016 Standout
Health Supervision for Children With Down Syndrome
2011 Standout
Detection of DNA using bioactive paper strips
2009
The Human Brain in a Dish: The Promise of iPSC-Derived Neurons
2011
Mining electronic health records: towards better research applications and clinical care
2012 Standout
Comprehensive qPCR profiling of gene expression in single neuronal cells
2011 StandoutNobel
Guidelines on the Use of Therapeutic Apheresis in Clinical Practice – Evidence‐Based Approach from the Writing Committee of the American Society for Apheresis: The Eighth Special Issue
2019 Standout
Diagnosis and management of hereditary haemochromatosis
2011
Concordance Study of 3 Direct-to-Consumer Genetic-Testing Services
2010
Integrating Genomic-Based Clinical Decision Support Into Electronic Health Records
2010
Prevention and Management of Chemotherapy-Induced Peripheral Neuropathy in Survivors of Adult Cancers: American Society of Clinical Oncology Clinical Practice Guideline
2014 Standout
Improving the referral process for familial breast cancer genetic counselling: findings of three randomised controlled trials of two interventions
2005
Screening for hyperglycaemia in pregnancy: a rapid update for the National Screening Committee
2010 StandoutNobel
Covalent interlocking of glucose oxidase and peroxidase in the voids of paper: enzyme–polymer “spider webs”
2016 StandoutNobel
The Timing of Normal Puberty and the Age Limits of Sexual Precocity: Variations around the World, Secular Trends, and Changes after Migration
2003 Standout
The Genetic Architecture of Schizophrenia: New Mutations and Emerging Paradigms
2011
Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes
2010
Works of Christine Patch being referenced
Genetic horoscopes: is it all in the genes? Points for regulatory control of direct-to-consumer genetic testing
2009
Penetrance for copy number variants associated with schizophrenia
2010
A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations
2008
Use of Antihypertensive Medications and Mortality of Patients With Autosomal Dominant Polycystic Kidney Disease: A Population-Based Study
2011
How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom
2005
A Systematic Search forUniparental Disomy in Carriers ofChromosome Translocations
1994
Recommendations for education and training of genetic nurses and counsellors in the United Kingdom.
1998