Sarah Smithson

Sarah Smithson

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Sarah Smithson

Sarah Smithson

Publications by authors named "Sarah Smithson"

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Monozygotic Twins Discordant for Trisomy 13: A Case of Trisomic Rescue Supporting the Continued Need for First-Trimester Ultrasound.

Pediatr Dev Pathol 2017 Jul-Aug;20(4):340-347. Epub 2017 Jan 1.

2 Department of Pathology, Monmouth Medical Center, Long Branch, NJ, USA.

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http://journals.sagepub.com/doi/10.1177/1093526616686471
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http://dx.doi.org/10.1177/1093526616686471DOI Listing
May 2019

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.

Am J Med Genet A 2019 Mar 13;179(3):344-349. Epub 2019 Jan 13.

South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.61024DOI Listing
March 2019

New macular findings in individuals with biallelic KLHL7 gene mutation.

BMJ Open Ophthalmol 2019 16;4(1):e000234. Epub 2019 Feb 16.

Department of Paediatric Ophthalmology, Bristol Eye Hospital, Bristol, UK.

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http://bmjophth.bmj.com/lookup/doi/10.1136/bmjophth-2018-000
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http://dx.doi.org/10.1136/bmjophth-2018-000234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440596PMC
February 2019

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.

Hum Mutat 2018 10 7;39(10):1360-1365. Epub 2018 Aug 7.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1002/humu.23598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175480PMC
October 2018

Mycophenolate mofetil to treat mid-dermal elastolysis.

Pediatr Dermatol 2018 Jul 23;35(4):e221-e223. Epub 2018 Apr 23.

Department of Dermatology, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/pde.13511DOI Listing
July 2018

A splice-site variant in ANKRD11 associated with classical KBG syndrome.

Am J Med Genet A 2017 Oct 17;173(10):2844-2846. Epub 2017 Aug 17.

University Hospitals Bristol NHS Trust, Bristol, England.

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http://dx.doi.org/10.1002/ajmg.a.38397DOI Listing
October 2017

Time to revive the GP-focused clinical examination.

Br J Gen Pract 2017 10;67(663):446-447

Clinical Lecturer in Medical Education, Keele Medical School.

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http://dx.doi.org/10.3399/bjgp17X692741DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5604805PMC
October 2017

Screening Adults for Depression in Primary Care.

Med Clin North Am 2017 Jul;101(4):807-821

Department of Medicine, Dell Medical School, University of Texas-Austin, 1912 Speedway Mail Code: D2000, Austin, TX 78712, USA.

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http://dx.doi.org/10.1016/j.mcna.2017.03.010DOI Listing
July 2017

Clinical utility gene card for: Cantú syndrome.

Eur J Hum Genet 2017 04 4;25(4). Epub 2017 Jan 4.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1038/ejhg.2016.185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386410PMC
April 2017

Prenatal diagnosis and postnatal outcome of massive abdominal aortic aneurysms-a case report.

Prenat Diagn 2015 Sep 16;35(9):923-5. Epub 2015 Jul 16.

Fetal Medicine Unit, St Michael's Hospital, University Hospitals Bristol NHS Foundation Trust, UK.

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http://dx.doi.org/10.1002/pd.4628DOI Listing
September 2015

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

Clin J Am Soc Nephrol 2015 Jul 11;10(7):1235-45. Epub 2015 May 11.

Academic and Children's Renal Unit, School of Clinical Sciences, University of Bristol, Bristol, United Kingdom;

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http://dx.doi.org/10.2215/CJN.10981114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491297PMC
July 2015

Differing trends in thickness and survival between nodular and non-nodular primary cutaneous melanoma in Victoria, Australia.

Med J Aust 2015 Jul;203(1):20

Victorian Melanoma Service, Melbourne, VIC, Australia.

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http://dx.doi.org/10.5694/mja15.00148DOI Listing
July 2015

Predictive testing for inherited prion disease: report of 22 years experience.

Eur J Hum Genet 2014 Dec 9;22(12):1351-6. Epub 2014 Apr 9.

1] NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, University College Hospitals NHS Trust, London, UK [2] MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1038/ejhg.2014.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4091984PMC
December 2014

Brittle cornea syndrome: recognition, molecular diagnosis and management.

Orphanet J Rare Dis 2013 May 4;8:68. Epub 2013 May 4.

Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1186/1750-1172-8-68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659006PMC
May 2013

Medical students' reactions to an experience-based learning model of clinical education.

Perspect Med Educ 2013 May 3. Epub 2013 May 3.

Northwest Deanery, Three Piccadilly Place, Manchester, M1 3BN, UK,

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http://dx.doi.org/10.1007/s40037-013-0061-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656171PMC
May 2013

De novo mutations in MLL cause Wiedemann-Steiner syndrome.

Am J Hum Genet 2012 Aug 12;91(2):358-64. Epub 2012 Jul 12.

South West Thames Regional Genetics Service, St George's Hospital, University of London, London SW17 0RE, UK.

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http://dx.doi.org/10.1016/j.ajhg.2012.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415539PMC
August 2012

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome).

BMC Pediatr 2012 May 3;12:48. Epub 2012 May 3.

Department of Paediatric Haematology, Oncology & BMT, Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Upper Maudlin St, Bristol, BS2 8BJ, UK.

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http://bmcpediatr.biomedcentral.com/articles/10.1186/1471-24
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http://dx.doi.org/10.1186/1471-2431-12-48DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3457858PMC
May 2012

Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH.

Am J Med Genet A 2010 Dec;152A(12):3124-8

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK.

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http://doi.wiley.com/10.1002/ajmg.a.33567
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http://dx.doi.org/10.1002/ajmg.a.33567DOI Listing
December 2010

Pneumothorax in two siblings: is there a genetic basis for recurrence?

J Thorac Cardiovasc Surg 2009 Apr 2;137(4):1021-2. Epub 2008 May 2.

Department of Thoracic Surgery, Bristol Royal Infirmary, Bristol, United Kingdom.

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http://dx.doi.org/10.1016/j.jtcvs.2008.03.019DOI Listing
April 2009

Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

Clin Dysmorphol 2009 Jan;18(1):31-5

Department of Clinical Genetics, St Michael's Hospital, Bristol, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3283189762DOI Listing
January 2009

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

Am J Hum Genet 2009 Jan 24;84(1):80-4. Epub 2008 Dec 24.

Department of Human Genetics, Hadassah Hebrew University Hospital, POB 12000, Jerusalem, 91120, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2008.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668047PMC
January 2009

Learning about cultural diversity: The whole story.

Med Educ 2006 Nov;40(11):1132-3

University of Manchester, Division of Primary Care, Rusholme Health Centre, Walmer Street, Rusholme, Manchester M14 5NP, UK.

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http://dx.doi.org/10.1111/j.1365-2929.2006.02590.xDOI Listing
November 2006

Skeletal dysplasias.

Semin Fetal Neonatal Med 2005 Jun;10(3):233-41

Oxford Radcliffe Hospitals, Oxford OX3 7LJ, UK.

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http://dx.doi.org/10.1016/j.siny.2004.12.001DOI Listing
June 2005