User profiles for Helen Dolling

Helen Dolling

University of Cambridge
Verified email at cam.ac.uk
Cited by 544

[HTML][HTML] Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

CE French, I Delon, H Dolling, A Sanchis-Juan… - Intensive care …, 2019 - Springer
Purpose With growing evidence that rare single gene disorders present in the neonatal period,
there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to …

[HTML][HTML] Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short-and long-read genome sequencing

…, K Stirrups, I Delon, E Dewhurst, H Dolling… - Genome medicine, 2018 - Springer
Background Studies have shown that complex structural variants (cxSVs) contribute to human
genomic variation and can cause Mendelian disease. We aimed to identify cxSVs relevant …

[PDF][PDF] Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency

…, I Delon, AT Pagnamenta, H Dolling… - The American Journal of …, 2018 - cell.com
Isolated complex I deficiency is a common biochemical phenotype observed in pediatric
mitochondrial disease and often arises as a consequence of pathogenic variants affecting one …

[PDF][PDF] De novo truncating mutations in WASF1 cause intellectual disability with seizures

…, J Davis, E Dewhurst, H Dolling… - The American Journal of …, 2018 - cell.com
Next-generation sequencing has been invaluable in the elucidation of the genetic etiology of
many subtypes of intellectual disability in recent years. Here, using exome sequencing and …

[PDF][PDF] Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

CE French, H Dolling, K Mégy, A Sanchis-Juan… - Human Genetics and …, 2022 - cell.com
To facilitate early deployment of whole-genome sequencing (WGS) for severely ill children,
a standardized pipeline for WGS analysis with timely turnaround and primary care pediatric …

Complex structural variants resolved by short-read and long-read whole genome sequencing in Mendelian disorders

…, C Penkett, K Stirrups, I Delon, E Dewhurst, H Dolling… - BioRxiv, 2018 - biorxiv.org
Complex structural variants (cxSVs) are genomic rearrangements comprising multiple structural
variants, typically involving three or more breakpoint junctions. They contribute to human …

[PDF][PDF] Isabelle Delon, 2 Matthew Wakeling, 4 Lucy Mallin, 5 Shruti Agrawal, 2 Topun Austin, Florence Walston, 6 Soo-Mi Park, 2 Alasdair Parker, 2 Chinthika Piyasena …

CE French, H Dolling, K Mégy, A Sanchis-Juan… - 2022 - researchgate.net
To facilitate early deployment of whole-genome sequencing (WGS) for severely ill children,
a standardized pipeline for WGS analysis with timely turnaround and primary care pediatric …

US patent policy as a beggar-thy-neighbour policy

H Dolling - 2011 - researchportal.murdoch.edu.au
The United States of America (US) has founded its patent policy on the basis that stronger
patent protection engenders more innovation (US Patent Principle). The US Patent Principle …

BSCI: Ett europeiskt initiativ till standardisering av socialt ansvarstagande

H Dolling, M Maaskola - 2005 - diva-portal.org
Most of the clothes sold in Europe today are produced in developing countries where the
production costs are lower. The exploitation of the developing countries has led to that the …

803: WHOLE GENOME SEQUENCE ANALYSIS FOR RAPID DIAGNOSIS OF SEVERELY ILL CHILDREN IN INTENSIVE CARE

L Raymond, C French, I Delon, H Dolling… - Critical Care …, 2019 - journals.lww.com
Methods: We have performed whole genome sequence analysis on DNA from parents and
children. Phenotypes were recorded using human phenotype ontology terms (HPO). Results: …