Publications by authors named "Sarah Waller"

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A Novel Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case Report.
Miriam J Smith, Emily-Jayne Shell, George J Burghel, Megan Carney, Sarah J Waller

Mol Syndromol· December 2025

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Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for -related schwannomatosis.
Miriam J Smith, Cristina Perez-Becerril, Mwee van der Meer, George J Burghel, Sarah J Waller

J Med Genet· October 2024

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The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.
Mohammud Musleh, Adam Bull, Emma Linton, Jingshu Liu, Sarah Waller

Genes (Basel)· March 2023

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Embryonal sarcoma of the liver in a girl with Cockayne syndrome.
Colin Thorbinson, Anthony Penn, Pantelis Nicola, Claire Hardcastle, Sarah Waller

Clin Genet· March 2022

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Sampling Accelerated Micron Scale Ice Particles with a Quadrupole Ion Trap Mass Spectrometer.
Anton Belousov, Morgan Miller, Robert Continetti, Stojan Madzunkov, Jurij Simcic, Sarah Waller

J Am Soc Mass Spectrom· April 2021

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Establishing the structural motifs present in small ammonium and aminium bisulfate clusters of relevance to atmospheric new particle formation.
John J Kreinbihl, Nicoline C Frederiks, Sarah E Waller, Yi Yang, Christopher J Johnson

J Chem Phys· July 2020

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Electrospray Ionization-Based Synthesis and Validation of Amine-Sulfuric Acid Clusters of Relevance to Atmospheric New Particle Formation.
Sarah E Waller, Yi Yang, Eleanor Castracane, John J Kreinbihl, Kathleen A Nickson

J Am Soc Mass Spectrom· November 2019

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Chemical Ionization Mass Spectrometry: Applications for the Measurement of Nonvolatile Organics at Ocean Worlds.
Sarah E Waller, Anton Belousov, Richard D Kidd, Dragan Nikolić, Stojan M Madzunkov

Astrobiology· October 2019

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Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe () gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.
Ahmed K Shalaby, Peter Emery-Billcliff, Diana Baralle, Tabib Dabir, Shahiba Begum, Sarah Waller

Mol Vis· May 2019

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Making Homes More Dementia-Friendly through the Use of Aids and Adaptations.
Simon Evans, Sarah Waller, Jennifer Bray, Teresa Atkinson

Healthcare (Basel)· March 2019

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Direct Link between Structure and Hydration in Ammonium and Aminium Bisulfate Clusters Implicated in Atmospheric New Particle Formation.
Yi Yang, Sarah E Waller, John J Kreinbihl, Christopher J Johnson

J Phys Chem Lett· September 2018

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The Interplay Between Hydrogen Bonding and Coulombic Forces in Determining the Structure of Sulfuric Acid-Amine Clusters.
Sarah E Waller, Yi Yang, Eleanor Castracane, Emily E Racow, John J Kreinbihl

J Phys Chem Lett· March 2018

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The development of environmental assessment tools to support the creation of dementia friendly care environments: Innovative practice.
Sarah Waller, Abigail Masterson, Simon C Evans

Dementia (London)· February 2017

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Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Rachel L Taylor, Mark T Handley, Sarah Waller, Christopher Campbell, Jill Urquhart

Invest Ophthalmol Vis Sci· January 2017

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The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Panagiotis I Sergouniotis, Stephanie J Barton, Sarah Waller, Rahat Perveen, Jamie M Ellingford

Orphanet J Rare Dis· September 2016

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Effect of Alkyl Group on MxOy(-) + ROH (M = Mo, W; R = Me, Et) Reaction Rates.
Manisha Ray, Sarah E Waller, Caroline Chick Jarrold

J Phys Chem A· March 2016

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Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.
Rachel L Gillespie, Jill Urquhart, Beverley Anderson, Simon Williams, Sarah Waller

Ophthalmology· January 2016

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Tools' significant role in supportive design.
Sarah Waller

Health Estate· November 2015

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Designing dementia-friendly hospital environments.
Sarah Waller, Abigail Masterson

Future Hosp J· February 2015

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Ce(x)O(y)⁻ (x = 2-3) + D₂O reactions: stoichiometric cluster formation from deuteroxide decomposition and anti-Arrhenius behavior.
Jeremy A Felton, Manisha Ray, Sarah E Waller, Jared O Kafader, Caroline Chick Jarrold

J Phys Chem A· October 2014

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RH and H2 production in reactions between ROH and small molybdenum oxide cluster anions.
Sarah E Waller, Caroline C Jarrold

J Phys Chem A· September 2014

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Comparative study of water reactivity with Mo₂O(y)⁻ and W₂O(y)⁻ clusters: a combined experimental and theoretical investigation.
Manisha Ray, Sarah E Waller, Arjun Saha, Krishnan Raghavachari, Caroline Chick Jarrold

J Chem Phys· September 2014

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Simple relationship between oxidation state and electron affinity in gas-phase metal-oxo complexes.
Sarah E Waller, Manisha Ray, Bruce L Yoder, Caroline Chick Jarrold

J Phys Chem A· December 2013

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Incidence of fetal anomalies after incomplete anatomic surveys between 16 and 22 weeks.
Sarah A Waller, Kathleen O'Connell, Ashley Carter, Michael G Gravett, Manjiri Dighe

Ultrasound Q· December 2013

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New insights on photocatalytic H2 liberation from water using transition-metal oxides: lessons from cluster models of molybdenum and tungsten oxides.
Raghunath O Ramabhadran, Jennifer E Mann, Sarah E Waller, David W Rothgeb, Caroline C Jarrold

J Am Chem Soc· November 2013

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