Publications by authors named "Susan Tomkins"

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A randomized, double-blind, placebo-controlled, parallel-group study of once-daily inhaled fluticasone furoate on the hypothalamic-pituitary-adrenocortical axis of children with asthma.
Philippe Bareille, Susan Tomkins, Varsha Imber, Mohammed Tayob, Karen Dunn

Allergy Asthma Clin Immunol· February 2020

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De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
Lot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, Saskia Maas, Hester Y Kroes, Susan Tomkins

Am J Hum Genet· August 2019

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Use of Both Qualitative and Quantitative Methods to Estimate Meaningful Change Thresholds for Key Endpoints in Pediatric Asthma Trials.
Rob Arbuckle, Hannah Staunton, Kate Sully, Susan Tomkins, Sanjeev Khindri

Value Health· March 2019

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Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes , and .
Katrina A Andrews, David B Ascher, Douglas Eduardo Valente Pires, Daniel R Barnes, Lindsey Vialard, Susan E Tomkins

J Med Genet· June 2018

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Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Georgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, Bernt Popp, Christian Büttner, Susan Tomkins

Am J Hum Genet· March 2018

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Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.
Ruth T Casey, Anne Y Warren, Jose Ezequiel Martin, Benjamin G Challis, Eleanor Rattenberry, Susan Tomkins

J Clin Endocrinol Metab· November 2017

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Detection of structural mosaicism from targeted and whole-genome sequencing data.
Daniel A King, Alejandro Sifrim, Tomas W Fitzgerald, Raheleh Rahbari, Emma Hobson, Susan E Tomkins

Genome Res· October 2017

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Corrigendum to "Knemometry Assessment of Short-term Growth in Children with Asthma Receiving Fluticasone Furoate for 2 Weeks: A Randomized, Placebo-controlled, Cross-over Trial" Clin Ther 2017;39:1191-1199.
Ole D Wolthers, Sally Stone, Philippe Bareille, Susan Tomkins, Sanjeev Khindri

Clin Ther· September 2017

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Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls.
Sibel Saya, Emma Killick, Sarah Thomas, Natalie Taylor, Elizabeth K Bancroft, Susan Tomkins

Fam Cancer· July 2017

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Amanda J Oliver, Caroline H Goldfrad, Susan A Tomkins, Jonathan Grigg

J Pediatr· July 2017

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Knemometry Assessment of Short-term Growth in Children With Asthma Receiving Fluticasone Furoate for 2 Weeks: A Randomized, Placebo-controlled, Crossover Trial.
Ole D Wolthers, Sally Stone, Philippe Bareille, Susan Tomkins, Sanjeev Khindri

Clin Ther· June 2017

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Asthma control using fluticasone propionate/salmeterol in Asian and non-Asian populations: a post hoc analysis of the GOAL study.
Jean Bousquet, Neil Barnes, Michael Gibbs, Nadeem Gul, Susan A Tomkins

BMC Pulm Med· April 2017

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Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
Mira Kharbanda, Daniela T Pilz, Susan Tomkins, Kate Chandler, Anand Saggar

Eur J Med Genet· February 2017

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Randomized Trial of Once-Daily Fluticasone Furoate in Children with Inadequately Controlled Asthma.
Amanda J Oliver, Ronina A Covar, Caroline H Goldfrad, Ryan M Klein, Søren E Pedersen, Susan A Tomkins

J Pediatr· November 2016

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Randomised trial of once-daily vilanterol in children with asthma on inhaled corticosteroid therapy.
Amanda J Oliver, Ronina A Covar, Caroline H Goldfrad, Ryan M Klein, Søren E Pedersen, Susan A Tomkins

Respir Res· April 2016

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Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Monique Van Scherpenzeel, Sharita Timal, Daisy Rymen, Alexander Hoischen, Manfred Wuhrer, Susan Tomkins

Brain· April 2014

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Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.
Mariam Jafri, James Whitworth, Eleanor Rattenberry, Lindsey Vialard, Gail Kilby, Susan Tomkins

Clin Endocrinol (Oxf)· June 2013

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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.
Vikram P Sharma, Aimée L Fenwick, Mia S Brockop, Simon J McGowan, Jacqueline A C Goos, Susan E Tomkins

Nat Genet· March 2013

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COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.
Davide Tonduti, Anna Pichiecchio, Roberta La Piana, John H Livingston, Daniel A Doherty, Susan Tomkins

Neuropediatrics· October 2012

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Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Jennifer J Johnston, Julie C Sapp, Joyce T Turner, David Amor, Salim Aftimos, Susan Tomkins

Hum Mutat· October 2010

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Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.
Jill A Rosenfeld, John A Crolla, Susan Tomkins, Patricia Bader, Bernice Morrow

Am J Med Genet A· August 2010

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Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.
N Simon Thomas, John F Harvey, David J Bunyan, Julia Rankin, Giedre Grigelioniene, Susan Tomkins

Am J Med Genet A· July 2009

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15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.
Katrina Tatton-Brown, Daniela T Pilz, Karen Helene Orstavik, Michael Patton, John C K Barber, Susan Tomkins

Am J Med Genet A· February 2009

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Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature.
Shelagh K Joss, Sam Ghazawy, Susan Tomkins, Mushtaq Ahmed, John Bradbury

Eur J Pediatr· March 2008

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Preliminary safety and efficacy data of brecanavir, a novel HIV-1 protease inhibitor: 24 week data from study HPR10006.
Jacob P Lalezari, Douglas J Ward, Susan A Tomkins, Harmony P Garges

J Antimicrob Chemother· July 2007

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