Claire Salter

Claire Salter

UNVERIFIED PROFILE

Are you Claire Salter?   Register this Author

Register author
Claire Salter

Claire Salter

Publications by authors named "Claire Salter"

Are you Claire Salter?   Register this Author

17Publications

588Reads

41Profile Views

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2020 Mar 3;22(3):524-537. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
March 2020

MNS1 variant associated with situs inversus and male infertility.

Eur J Hum Genet 2020 Jan 18;28(1):50-55. Epub 2019 Sep 18.

Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-019-0489-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906318PMC
January 2020

Truncating mutations underlie a spectrum of dominant hereditary motor neuropathies.

Neurol Genet 2018 Apr 23;4(2):e222. Epub 2018 Mar 23.

RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5866402PMC
April 2018

How do clinical genetics consent forms address the familial approach to confidentiality and incidental findings? A mixed-methods study.

Fam Cancer 2018 01;17(1):155-166

Clinical Ethics and Law, Faculty of Medicine, Southampton General Hospital, University of Southampton, Room AB 203, MP 801, South Academic Block, Tremona Road, Southampton, SO16 6YD, UK.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10689-017-9994-9
Publisher Site
http://dx.doi.org/10.1007/s10689-017-9994-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5770491PMC
January 2018

Prevalence and profile of Neurodevelopment and Fetal Alcohol Spectrum Disorder (FASD) amongst Australian Aboriginal children living in remote communities.

Res Dev Disabil 2017 Jun 9;65:114-126. Epub 2017 May 9.

Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Australia; The George Institute for Global Health, Sydney Medical School, University of Sydney, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ridd.2017.04.001DOI Listing
June 2017

Further defining the phenotypic spectrum of B4GALT7 mutations.

Am J Med Genet A 2016 06 4;170(6):1556-63. Epub 2016 Mar 4.

Wessex Clinical Genetics Service, University Hospitals Southampton NHS Foundation Trust, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37604DOI Listing
June 2016

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.

Am J Med Genet A 2016 Apr 15;170A(4):1017-22. Epub 2016 Jan 15.

Department of Ophthalmology, Southampton General Hospital, Southampton, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37436DOI Listing
April 2016

Prevalence of fetal alcohol syndrome in a population-based sample of children living in remote Australia: the Lililwan Project.

J Paediatr Child Health 2015 Apr 15;51(4):450-7. Epub 2015 Jan 15.

Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, Australia; Musculoskeletal Division, The George Institute for Global Health, Sydney Medical School, University of Sydney, Sydney, Australia; Poche Centre for Indigenous Health, Sydney Medical School, University of Sydney, Sydney, Australia.

View Article

Download full-text PDF

Source
http://aboriginaldisabilityjusticecampaign.org/s/Fitzpatrick
Web Search
http://dx.doi.org/10.1111/jpc.12814DOI Listing
April 2015