Ruth Newbury-Ecob

Ruth Newbury-Ecob

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Ruth Newbury-Ecob

Ruth Newbury-Ecob

Publications by authors named "Ruth Newbury-Ecob"

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 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

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

Eur J Med Genet 2019 Jan 23;62(1):27-34. Epub 2018 Apr 23.

West of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.04.014DOI Listing
January 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

SET de novo frameshift variants associated with developmental delay and intellectual disabilities.

Eur J Hum Genet 2018 09 15;26(9):1306-1311. Epub 2018 Jun 15.

Merseyside and Cheshire Clinical Genetics Service, Liverpool, UK.

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http://dx.doi.org/10.1038/s41431-018-0199-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117329PMC
September 2018

Tbx5 Buffers Inherent Left/Right Asymmetry Ensuring Symmetric Forelimb Formation.

PLoS Genet 2016 Dec 19;12(12):e1006521. Epub 2016 Dec 19.

Division of Developmental Biology, MRC-National Institute for Medical Research, Mill Hill, London, England.

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http://dx.doi.org/10.1371/journal.pgen.1006521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5215935PMC
December 2016

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

Clin Dysmorphol 2016 Oct;25(4):135-45

aDepartment of Clinical Genetics, Nottingham City Hospital, Nottingham bDepartment of Clinical Genetics, University Hospitals Bristol, Bristol cClinical Genetics Service dViapath Analytics LLP, Guy's and St Thomas' Hospital eClinical Genetics Unit, Great Ormond Street Hospital for Children, London fWest of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow gYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds hWellcome Trust Sanger Institute, Hinxton, Cambridge, UK iDepartment of Clinical Genetics, Our Lady's Hospital for Children jACoRD, University College Dublin, Dublin, Ireland.

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http://dx.doi.org/10.1097/MCD.0000000000000143DOI Listing
October 2016

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Nat Genet 2016 09 1;48(9):1060-5. Epub 2016 Aug 1.

Wellcome Trust Sanger Institute, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.3627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988037PMC
September 2016

Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings.

Pacing Clin Electrophysiol 2016 May 2;39(5):497-501. Epub 2016 Mar 2.

Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK.

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http://dx.doi.org/10.1111/pace.12813DOI Listing
May 2016

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Tetralogy of Fallot, microcephaly, short stature and brachymesophalangy is associated with hemizygous loss of noncoding MIR17HG and coding GPC5.

Clin Dysmorphol 2015 Jul;24(3):113-4

aClinical Genetics, St Michaels Hospital, Bristol bBristol Genetics Laboratory Pathology Sciences, Southmead Hospital Bristol, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000069DOI Listing
July 2015

What is Barth syndrome?

Midwives 2011 ;14(4):32-3

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August 2014

A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum.

Am J Med Genet A 2013 Aug 3;161A(8):2056-9. Epub 2013 Jul 3.

Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK.

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http://dx.doi.org/10.1002/ajmg.a.36016DOI Listing
August 2013

New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.

Curr Opin Genet Dev 2013 Jun 17;23(3):316-23. Epub 2013 Apr 17.

Department of Haematology, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1016/j.gde.2013.02.015DOI Listing
June 2013

Barth syndrome.

Orphanet J Rare Dis 2013 Feb 12;8:23. Epub 2013 Feb 12.

NHS Specialised Services Barth Syndrome Service, Royal Hospital for Children, Upper Maudlin St, Bristol, BS2 8BJ, UK.

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http://dx.doi.org/10.1186/1750-1172-8-23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583704PMC
February 2013

Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft.

Clin Dysmorphol 2012 Jul;21(3):141-3

Clinical Genetics Department, University Hospitals Bristol NHS Foundation Trust, St Michael's Hospital, Southwell St., Bristol, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32835306f0DOI Listing
July 2012

Primary lymphedema with coarctation of the aorta: possible new syndrome or variant of Irons-Bianchi syndrome?

Am J Med Genet A 2011 Nov 22;155A(11):2762-5. Epub 2011 Sep 22.

Department of Dermatology, St George's Healthcare NHS Trust, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.34188DOI Listing
November 2011

The face of Ulnar Mammary syndrome?

Eur J Med Genet 2011 May-Jun;54(3):301-5. Epub 2011 Jan 1.

Yorkshire Regional Genetics Centre, Ward 10, Chapel Allerton Hospital, Chapeltown Road, Leeds LS7 9TF, England, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212100015
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http://dx.doi.org/10.1016/j.ejmg.2010.12.010DOI Listing
September 2011

Pseudotail as a feature of microphthalmia with linear skin defects syndrome.

Clin Dysmorphol 2011 Apr;20(2):111-3

Fetal Medicine Unit, St Michael's Hospital, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328342eb66DOI Listing
April 2011

Supernumerary intestinal muscle coat in a patient with Hirschsprung disease/Mowat-Wilson syndrome.

Pediatr Dev Pathol 2010 Sep-Oct;13(5):415-8. Epub 2010 Feb 16.

Department of Histopathology, Bristol Royal Infirmary, Bristol, BS2 8HW, UK.

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http://dx.doi.org/10.2350/09-09-0715-CR.1DOI Listing
February 2011

A case of probable Bohring-Opitz syndrome with medulloblastoma.

Clin Dysmorphol 2010 Oct;19(4):202-5

Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.

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https://insights.ovid.com/crossref?an=00019605-201010000-000
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http://dx.doi.org/10.1097/MCD.0b013e32833e07deDOI Listing
October 2010

The phenotype of Floating-Harbor syndrome in 10 patients.

Am J Med Genet A 2010 Apr;152A(4):821-9

Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.33294DOI Listing
April 2010

Dysmorphology of Barth syndrome.

Clin Dysmorphol 2009 Oct;18(4):185-7

Departments of Clinical Genetics, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32832a9e62DOI Listing
October 2009

Constitutional trisomy 8 and Behçet syndrome.

Am J Med Genet A 2009 May;149A(5):982-6

North Wales Clinical Genetics Service, Glan Clwyd Hospital, Rhyl, UK.

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http://dx.doi.org/10.1002/ajmg.a.32756DOI Listing
May 2009

'Medicine's next goldmine?' The implications of new genetic health technologies for the health service.

Med Health Care Philos 2006 ;9(1):33-41

MRC HSRC Department of Social Medicine, University of Bristol, Canynge Hall, Whiteladies Road, Bristol, BS8 2PR, UK.

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http://dx.doi.org/10.1007/s11019-005-7496-2DOI Listing
July 2006

Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient.

Am J Med Genet A 2006 Mar;140(6):649-51

Institut für Humangenetik und Anthropologie, Universität Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31136DOI Listing
March 2006

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

Nat Genet 2005 May 10;37(5):465-7. Epub 2005 Apr 10.

Department of Human Genetics, Radboud University Nijmegen Medical Center, Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ng1546DOI Listing
May 2005

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

J Hum Genet 2005 10;50(1):21-5. Epub 2004 Dec 10.

Medical Genetics Unit, Department of Clinical Developmental Sciences, St. George's Hospital Medical School, London, SW17 0RE, UK.

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http://dx.doi.org/10.1007/s10038-004-0212-xDOI Listing
March 2005

Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.

Eur J Hum Genet 2004 Sep;12(9):718-28

Wellcome Trust Centre for Human Genetics, University of Oxford, Department of Genomics, Roosevelt Drive, Headington, Oxford OX3 7BN, UK.

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http://www.nature.com/articles/5201194
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http://dx.doi.org/10.1038/sj.ejhg.5201194DOI Listing
September 2004

Holt-Oram syndrome: is there a "face"?

Am J Med Genet A 2003 May;118A(4):314-8

Eastern Ontario Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://dx.doi.org/10.1002/ajmg.a.10214DOI Listing
May 2003