Judith A Goodship

Judith A Goodship

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Judith A Goodship

Judith A Goodship

Publications by authors named "Judith A Goodship"

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Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation.

Am J Hum Genet 2015 Sep 27;97(3):419-34. Epub 2015 Aug 27.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.07.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564992PMC
September 2015

Association analysis identifies new risk loci for congenital heart disease in Chinese populations.

Nat Commun 2015 Aug 18;6:8082. Epub 2015 Aug 18.

1] State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China [2] Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 211166, China.

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http://dx.doi.org/10.1038/ncomms9082DOI Listing
August 2015

Factors determining penetrance in familial atypical haemolytic uraemic syndrome.

J Med Genet 2014 Nov 26;51(11):756-64. Epub 2014 Sep 26.

Peninsula Clinical Genetics Service, Royal Devon & Exeter NHS Foundation Trust, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK University of Exeter Medical School, University of Exeter, Exeter, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102498DOI Listing
November 2014

A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti.

PLoS One 2013 4;8(12):e81625. Epub 2013 Dec 4.

Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom ; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0081625PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852476PMC
September 2014

Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy.

Am J Kidney Dis 2013 Nov 16;62(5):978-83. Epub 2013 Jul 16.

Northern Molecular Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1053/j.ajkd.2013.05.020DOI Listing
November 2013

A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.

Clin Kidney J 2013 Aug 23;6(4):410-3. Epub 2013 Jun 23.

Renal Unit, Freeman Hospital, Newcastle upon Tyne NHS Hospitals Foundation Trust, Newcastle Upon Tyne, UK; Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, UK.

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http://dx.doi.org/10.1093/ckj/sft058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898336PMC
August 2013

Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base.

Bone 2012 Jan 31;50(1):28-41. Epub 2011 Aug 31.

Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid and Ciber de enfermedades raras, Arturo Duperier 4, Madrid 28029, Spain.

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http://dx.doi.org/10.1016/j.bone.2011.08.025DOI Listing
January 2012

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

Hum Mutat 2009 Dec;30(12):1667-75

Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid and CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.

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http://dx.doi.org/10.1002/humu.21117DOI Listing
December 2009

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.

Am J Med Genet C Semin Med Genet 2009 Nov;151C(4):341-51

Instituto de Investigaciones Biomedicas, Consejo Superior de Investigaciones Científicas-Universidad Autó noma de Madrid, Spain.

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http://doi.wiley.com/10.1002/ajmg.c.30226
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http://dx.doi.org/10.1002/ajmg.c.30226DOI Listing
November 2009

Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome.

Mol Immunol 2008 Jan 26;45(1):95-105. Epub 2007 Jun 26.

Division of Rheumatology, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.molimm.2007.05.004DOI Listing
January 2008

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

Hum Genet 2007 Jan 21;120(5):663-70. Epub 2006 Sep 21.

Institute of Human Genetics, Newcastle University, Central parkway, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1007/s00439-006-0237-7DOI Listing
January 2007

Does complement factor B have a role in the pathogenesis of atypical HUS?

Mol Immunol 2006 Mar 2;43(7):856-9. Epub 2005 Aug 2.

Washington University School of Medicine, Campus Box 8045, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.molimm.2005.06.041DOI Listing
March 2006

Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation.

J Exp Med 2006 Jan 3;203(1):99-110. Epub 2006 Jan 3.

Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska University Hospital, Huddinge, SE-14186 Stockholm, Sweden.

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http://dx.doi.org/10.1084/jem.20050595DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2118080PMC
January 2006

Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome.

J Am Soc Nephrol 2005 Jul 25;16(7):2150-5. Epub 2005 May 25.

Institute of Human Genetics, University of Newcastle upon Tyne, Tyne and Wear NE1 3BZ, UK.

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http://dx.doi.org/10.1681/ASN.2005010103DOI Listing
July 2005

Cilia and disease.

Curr Opin Genet Dev 2005 Jun;15(3):308-14

Institute of Human Genetics, University of Newcastle, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S0959437X0500060
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http://dx.doi.org/10.1016/j.gde.2005.04.008DOI Listing
June 2005

A perspective on inversin.

Cell Biol Int 2004 ;28(2):119-24

Institute of Human Genetics, University of Newcastle, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1016/j.cellbi.2003.11.009DOI Listing
October 2004

Successful (?) therapy of hemolytic-uremic syndrome with factor H abnormality.

Pediatr Nephrol 2003 Sep 26;18(9):952-5. Epub 2003 Jun 26.

Zentrum für Kinderheilkunde und Jugendmedizin, Universität Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1007/s00467-003-1192-3DOI Listing
September 2003

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.

Nat Genet 2003 Apr 17;33(4):497-501. Epub 2003 Mar 17.

Genome Damage and Stability Centre, University of Sussex, East Sussex, BN1 9RQ, UK.

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http://www.nature.com/articles/ng1129
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http://dx.doi.org/10.1038/ng1129DOI Listing
April 2003

Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle.

Hum Mol Genet 2002 Dec;11(26):3345-50

Institute of Human Genetics, University of Newcastle, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1093/hmg/11.26.3345DOI Listing
December 2002

The genetics and pathogenesis of haemolytic uraemic syndrome and thrombotic thrombocytopenic purpura.

Curr Opin Nephrol Hypertens 2002 Jul;11(4):431-5

The Institute of Human Genetics and School of Clinical Medical Sciences, University of Newcastle upon Tyne, Newcastle upon Tyne NE1 4LP, UK.

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http://dx.doi.org/10.1097/00041552-200207000-00010DOI Listing
July 2002

Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.

Kidney Int 2002 Apr;61(4):1243-51

Department of Vascular Medicine and Diabetes Research, School of Postgraduate Medicine and Health Sciences, University of Exeter, Devon, United Kingdom.

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http://dx.doi.org/10.1046/j.1523-1755.2002.00272.xDOI Listing
April 2002