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Showing 1–50 of 71 results

Advanced filters: Author: Susan Robson Clear advanced filters

The validity of current clinical tests of contrast sensitivity and their ability to predict reading speed in low vision

Susan J Leat
George C Woo
Research01 Nov 1997
Eye

Volume: 11, P: 893-899
Aromatic-dependent Salmonella typhimurium are non-virulent and effective as live vaccines

Susan K. Hoiseth
B. A. D. Stocker
Research21 May 1981
Nature

Volume: 291, P: 238-239
Use of restriction enzymes to detect potential gene sequences in mammalian DNA

Susan Lindsay
Adrian P. Bird
Research28 May 1987
Nature

Volume: 327, P: 336-338
ON and OFF layers in the lateral geniculate nucleus of the mink

Simon Le Vay
Susan K. McConnell
Research25 Nov 1982
Nature

Volume: 300, P: 350-351
Allosteric modulation of beta1 integrin function induces lung repair in animal model of emphysema.

Rehab Al-Jamal
Linda Wilson
David J. Harrison
ResearchOpen Access13 Jul 2007
Nature Precedings

P: 1
Genetic transformation in Drosophila by microinjection of DNA

SUSAN GERMERAAD
Research01 Jul 1976
Nature

Volume: 262, P: 229-231
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Fine-mapping of causal variants and integration of epigenetic and chromatin conformation data identify likely target genes for 150 breast cancer risk regions.

Laura Fachal
Hugues Aschard
Alison M. Dunning
Research07 Jan 2020
Nature Genetics

Volume: 52, P: 56-73
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Oestrogen negative breast cancer is associated with a poor prognosis. In this study, the authors perform a meta-analysis of 11 breast cancer genome-wide association studies and identify four new loci associated with oestrogen negative breast cancer risk. These findings may aid in stratifying patients in the clinic.

Fergus J. Couch
Karoline B. Kuchenbaecker
Antonis C. Antoniou
ResearchOpen Access27 Apr 2016
Nature Communications

Volume: 7, P: 1-13
Nitrogen fixation gene (nifL) involved in oxygen regulation of nitrogenase synthesis in K. peumoniae

Susan Hill
Christina Kennedy
Robert Hanau
Research02 Apr 1981
Nature

Volume: 290, P: 424-426
F-actin binding site masked by the intramolecular association of vinculin head and tail domains

Robert P. Johnson
Susan W. Craig
Research19 Jan 1995
Nature

Volume: 373, P: 261-264
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Stig Bojesen, Georgia Chenevix-Trench, Alison Dunning and colleagues report common variants at the TERT-CLPTM1L locus associated with mean telomere length measured in whole blood. They also identify associations at this locus to breast or ovarian cancer susceptibility and report functional studies in breast and ovarian cancer tissue and cell lines.

Stig E Bojesen
Karen A Pooley
Alison M Dunning
Research27 Mar 2013
Nature Genetics

Volume: 45, P: 371-384
Primary structure of Torpedo californica acetylcholinesterase deduced from its cDNA sequence

Mark Schumacher
Shelley Camp
Palmer Taylor
Research01 Jan 1986
Nature

Volume: 319, P: 407-409
Identification of the homologous beige and Chediak–Higashi syndrome genes

Maria D. F. S. Barbosa
Quan A. Nguyen
Stephen F. Kingsmore
Research18 Jul 1996
Nature

Volume: 382, P: 262-265
Suppression of a myosin defect by a kinesin-related gene

Sue H. Lillie
Susan S. Brown
Research26 Mar 1992
Nature

Volume: 356, P: 358-361
A common molecular basis for three inherited kidney stone diseases

Sarah E. Lloyd
Simon H. S. Pearce
Rajesh V. Thakker
Research01 Feb 1996
Nature

Volume: 379, P: 445-449
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Breast cancer risk for BRCA1/BRCA2 mutation carriers varies depending on other genetic factors. Here, the authors perform a case-only genome-wide association study and highlight novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.

Juliette Coignard
Michael Lush
Antonis C. Antoniou
ResearchOpen Access17 Feb 2021
Nature Communications

Volume: 12, P: 1-22
Functional evaluation and clinical classification of BRCA2 variants

Results from a comprehensive evaluation of the function of BRCA2 variants, particularly variants of uncertain significance, provide a useful resource to improve the clinical management of individuals who carry such genetic variants.

Huaizhi Huang
Chunling Hu
Fergus J. Couch
ResearchOpen Access08 Jan 2025
Nature

Volume: 638, P: 528-537
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Paul Pharoah and colleagues report the results of a large genome-wide association study of ovarian cancer. They identify new susceptibility loci for different epithelial ovarian cancer histotypes and use integrated analyses of genes and regulatory features at each locus to predict candidate susceptibility genes, including OBFC1.

Catherine M Phelan
Karoline B Kuchenbaecker
Paul D P Pharoah
Research27 Mar 2017
Nature Genetics

Volume: 49, P: 680-691
Discovery of functional elements in 12 Drosophila genomes using evolutionary signatures

The genomic sequences of 12 Drosophila species for conserved elements and describe the relationship between conservation and function for many specific sequence motifs.

Alexander Stark
Michael F. Lin
Manolis Kellis
Research08 Nov 2007
Nature

Volume: 450, P: 219-232
Structural basis of long-range to short-range synaptic transition in NHEJ

Double-strand DNA break repair by the non-homologous end joining pathway involves the transition from a complex that bridges the DNA ends to a complex that aligns the DNA for ligation through the dissociation of the kinase subunits of the DNA-PK complexes.

Siyu Chen
Linda Lee
Yuan He
Research14 Apr 2021
Nature

Volume: 593, P: 294-298
MECHANISMS OF ACIDOSIS-INDUCED PROTEINURIA

Susan B Conley
Brenda N Murray
Alan M Robson
Research01 Apr 1977
Pediatric Research

Volume: 11, P: 548
EFFECT OF GLOMERULAR POLYANION REMOVAL ON PROTEINURIA

Edward R Root
Susan B Conley
Alan M Robson
Research01 Apr 1977
Pediatric Research

Volume: 11, P: 555
A function-based typology for Earth’s ecosystems

The International Union for Conservation of Nature’s Global Ecosystem Typology has been developed to provide a systematic framework for data on all of Earth’s ecosystems in a unified theoretical context to support biodiversity conservation and ecosystem services.

David A. Keith
José R. Ferrer-Paris
Richard T. Kingsford
ResearchOpen Access12 Oct 2022
Nature

Volume: 610, P: 513-518
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

Alison J. Ross
Victor Ruiz-Perez
Tom Strachan.
Research01 Dec 1998
Nature Genetics

Volume: 20, P: 358-361
Relationships of PGRN with sTREM2 in AD continuum and non-AD pathophysiology and their reciprocal roles in modulating amyloid pathology: two population-based study

Liang-Yu Huang
Chen-Chen Tan
Dariella Fernandez
ResearchOpen Access08 Jul 2025
Translational Psychiatry

Volume: 15, P: 1-11
Counselling framework for moderate-penetrance cancer-susceptibility mutations

The use of multigene panels for the assessment of cancer susceptibility is expanding rapidly in clinical practice. The appropriate management of individuals harbouring moderate-penetrance genetic variants in individuals referred for clinical testing is unclear. The authors of this Perspectives article provide a framework for clinical decision-making pending the development of a sufficient evidence base to document the clinical utility of the interventions for individuals with inherited moderate-penetrance gene mutations associated with an increased risk of cancer.

Nadine Tung
Susan M. Domchek
Mark E. Robson
Reviews14 Jun 2016
Nature Reviews Clinical Oncology

Volume: 13, P: 581-588
Assessing transmissibility of SARS-CoV-2 lineage B.1.1.7 in England

Genetic and testing data from England show that the SARS-CoV-2 variant of concern B.1.1.7 has a transmission advantage over other lineages.

Erik Volz
Swapnil Mishra
Neil M. Ferguson
Research25 Mar 2021
Nature

Volume: 593, P: 266-269
Tropical tree mortality has increased with rising atmospheric water stress

Over the past 35 years, annual tree mortality risk has increased in the moist tropical forests of Australia and is associated with increased atmospheric water stress.

David Bauman
Claire Fortunel
Sean M. McMahon
Research18 May 2022
Nature

Volume: 608, P: 528-533
Safety of bacteriophage therapy in severe Staphylococcus aureus infection

An observational human clinical trial using a bacteriophage preparation showed that it was well tolerated without major adverse events in human patients with Staphylococcus aureus septicaemia.

Aleksandra Petrovic Fabijan
Ruby C. Y. Lin
Tim Gilbey
Research17 Feb 2020
Nature Microbiology

Volume: 5, P: 465-472
Correction: Corrigendum: Genomic sequence of the pathogenic and allergenic filamentous fungus Aspergillus fumigatus

William C. Nierman
Arnab Pain
David W. Denning
Amendments and Corrections26 Jan 2006
Nature

Volume: 439, P: 502
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Frank Qian
Matti A. Rookus
Dezheng Huo
ResearchOpen Access19 Jun 2019
British Journal of Cancer

Volume: 121, P: 180-192
Structural basis for the topological specificity function of MinE

Glenn F. King
Yu-Ling Shih
Lawrence I. Rothfield
Research01 Nov 2000
Nature Structural Biology

Volume: 7, P: 1013-1017
An fMRI investigation of race-related amygdala activity in African-American and Caucasian-American individuals

Matthew D Lieberman
Ahmad Hariri
Susan Y Bookheimer
Research08 May 2005
Nature Neuroscience

Volume: 8, P: 720-722
Understanding emotions in others: mirror neuron dysfunction in children with autism spectrum disorders

Mirella Dapretto
Mari S Davies
Marco Iacoboni
Research04 Dec 2005
Nature Neuroscience

Volume: 9, P: 28-30
Fumarate in DNA repair

A new study suggests that fumarase, a metabolic enzyme normally associated with ATP production in mitochondria, is recruited to sites of DNA damage where it produces fumarate to inhibit histone demethylation and promote repair of DNA double strand breaks.

Susan P. Lees-Miller
News & Views28 Aug 2015
Nature Cell Biology

Volume: 17, P: 1096-1097
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Juliette Coignard
Michael Lush
Antonis C. Antoniou
Amendments and CorrectionsOpen Access14 May 2021
Nature Communications

Volume: 12, P: 1-2
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Copy number variants (CNVs) account for a major proportion of human genetic diversity and may contribute to genetic susceptibility to disease. Here, a large, genome-wide study of association between common CNVs and eight common human diseases is presented. The study provides a wealth of technical insights that will inform future study design and analysis. The results also indicate that common CNVs that can be 'typed' on existing platforms are unlikely to contribute much to the genetic basis of common diseases.

Nick Craddock
Matthew E. Hurles
Peter Donnelly
Research01 Apr 2010
Nature

Volume: 464, P: 713-720
Genomic sequence of the pathogenic and allergenic filamentous fungus Aspergillus fumigatus

William C. Nierman
Arnab Pain
David W. Denning
Research22 Dec 2005
Nature

Volume: 438, P: 1151-1156
Do lower antenatal blood pressure cut-offs in pregnant women with obesity identify those at greater risk of adverse maternal and perinatal outcomes? A secondary analysis of data from the UK Pregnancies Better Eating and Activity Trial (UPBEAT)

L. Slade
N. Syeda
Patrick Catalano
ResearchOpen Access16 Jun 2025
International Journal of Obesity

Volume: 49, P: 1523-1531
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Inge M. M. Lakeman
Alexandra J. van den Broek
Marjanka K. Schmidt
ResearchOpen Access10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1726-1737
Histopathologic features of breast cancer in Li–Fraumeni syndrome

M. Gabriela Kuba
Susan C. Lester
Deborah A. Dillon
Research07 Jul 2020
Modern Pathology

Volume: 34, P: 542-548
Noncoding RNA joins Ku and DNA-PKcs for DNA-break resistance in breast cancer

The noncoding RNA LINP1 acts as a scaffold that links Ku and DNA-PKcs and enables efficient DNA double-strand-break repair through nonhomologous end joining (NHEJ), thereby enhancing the resistance of triple-negative breast cancer cells to radiation and chemotherapies.

Susan P Lees-Miller
Tara L Beattie
John A Tainer
News & Views07 Jun 2016
Nature Structural & Molecular Biology

Volume: 23, P: 509-510
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Daniel R. Barnes
Matti A. Rookus
Antonis C. Antoniou
ResearchOpen Access15 Jul 2020
Genetics in Medicine

Volume: 22, P: 1653-1666
Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer

Jada G. Hamilton
Heather Symecko
Susan M. Domchek
Research13 Jul 2021
Genetics in Medicine

Volume: 23, P: 2105-2113
Plasma phosphorylated-tau181 as a predictive biomarker for Alzheimer’s amyloid, tau and FDG PET status

Xue-Ning Shen
Yu-Yuan Huang
Michelle Zmuda
ResearchOpen Access13 Nov 2021
Translational Psychiatry

Volume: 11, P: 1-10
The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

Thomas P. Slavin
Kara N. Maxwell
Fergus J. Couch
ResearchOpen Access09 Jun 2017
npj Breast Cancer

Volume: 3, P: 1-10
Identifying healthy individuals with Alzheimer’s disease neuroimaging phenotypes in the UK Biobank

Azevedo et al. conduct a machine learning-based analysis of structural MRI data from multiple cohorts. The authors identify Alzheimer’s disease-like neuroimaging phenotypes associated with poorer cognitive performance in a healthy UK Biobank cohort, potentially highlighting a population at risk of Alzheimer’s disease.

Tiago Azevedo
Richard A. I. Bethlehem
Gail Li
ResearchOpen Access20 Jul 2023
Communications Medicine

Volume: 3, P: 1-15
A predictive model using the mesoscopic architecture of the living brain to detect Alzheimer’s disease

Inglese et al. develop a predictive model that computes multi-regional statistical morpho-functional mesoscopic traits from T1-weighted magnetic resonance imaging scans. Their model reliably discriminates people with Alzheimer’s disease-related pathologies from those without.

Marianna Inglese
Neva Patel
Eric O. Aboagye
ResearchOpen Access20 Jun 2022
Communications Medicine

Volume: 2, P: 1-16
Increased CpG methylation of the estrogen receptor gene in BRCA1-linked estrogen receptor-negative breast cancers

William B Archey
Kristen A McEachern
Bradley A Arrick
Research09 Oct 2002
Oncogene

Volume: 21, P: 7034-7041
Development of patient “profiles” to tailor counseling for incidental genomic sequencing results

Chloe Mighton
Lindsay Carlsson
Kevin Thorpe
Research08 Mar 2019
European Journal of Human Genetics

Volume: 27, P: 1008-1017

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