Publications by authors named "Sarah F Smithson"

28Publications

The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.

J Hum Genet 2020 Oct 9. Epub 2020 Oct 9.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

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http://dx.doi.org/10.1038/s10038-020-00831-8DOI Listing
October 2020

Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.

Am J Med Genet A 2020 10 11;182(10):2403-2408. Epub 2020 Aug 11.

Clinical Genetics Service, St Michael's hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.

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http://dx.doi.org/10.1002/ajmg.a.61781DOI Listing
October 2020

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.

Am J Med Genet C Semin Med Genet 2019 12;181(4):658-681

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.c.31753DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7654223PMC
December 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

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

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

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

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

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