Publications by Professor Judith Goodship - ePrints

Browsing publications by Professor Judith Goodship.

Newcastle Authors	Title	Year
Dr Paul Brennan Professor Judith Goodship Alexander Henderson Linda Sneddon	Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield	2019
Dr David Bourn Dr Richard Fisher Professor Judith Goodship Dr Tara Montgomery Linda Sneddon et al.	Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6)	2019
Dr David Bourn Professor Sir John Burn Dr Richard Fisher Professor Judith Goodship Alexander Henderson et al.	Prevalence and architecture of de novo mutations in developmental disorders	2017
Professor Heather Cordell Professor Bernard Keavney Professor Judith Goodship	Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve	2017
Professor Judith Goodship Professor Heather Cordell	A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20	2016
Dr Michael Wright Professor Judith Goodship	Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing	2016
Dr Brian Wilson Professor Judith Goodship Dr Ian Wilson	The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care	2016
Professor Judith Goodship Matthieu Miossec Dr Danielle Brown Dr Ian Wilson Dr Lou Sutcliffe et al.	Analysis of rare variants and CNVs in non-syndromic tetralogy of Fallot	2015
Professor Bernard Keavney Professor Judith Goodship Professor Heather Cordell	Association analysis identifies new risk loci for congenital heart disease in Chinese populations	2015
Dr Ana Topf Professor Judith Goodship	Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development	2015
Professor Judith Goodship	Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families	2015
Dr Richard Howey Valentina Mamasoula Dr Ana Topf Professor Judith Goodship Professor Bernard Keavney et al.	Increased power for detection of parent-of-origin effects via the use of haplotype estimation	2015
Dr Richard Howey Valentina Mamasoula Dr Ana Topf Professor Judith Goodship Professor Bernard Keavney et al.	Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation	2015
Professor Judith Goodship	Investigation into the Importance of genes encoding ciliary proteins in congenital heart disease using whole exome sequencing	2015
Dr David Bourn Professor Sir John Burn Dr Richard Fisher Professor Judith Goodship Dr Alistair Henderson et al.	Large-scale discovery of novel genetic causes of developmental disorders	2015
Professor Judith Goodship Professor Tim Goodship	Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development	2015
Professor John Sayer Professor Judith Goodship	Nephronophthisis	2015
Professor John Sayer Dr Ann Marie Hynes Dr Sally Johnson Professor Judith Goodship	Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report	2015
Professor Judith Goodship	Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium	2015
Professor Judith Goodship Professor Tim Goodship Dr Heather Lambert Professor Heather Cordell	Urinary Tract Effects of HPSE2 Mutations	2015
Darren Houniet Dr Thahira Rahman Dr Yaobo Xu Professor Judith Goodship Professor Bernard Keavney et al.	Using population data for assessing next-generation sequencing performance	2015
Professor Heather Cordell Dr Valerie Wilson Professor Judith Goodship Professor Tim Goodship	Factors determining penetrance in familial atypical haemolytic uraemic syndrome	2014
Dr Ana Topf Dr Helen Griffin Dr Elise Glen Rachel Soemedi Dr Danielle Brown et al.	Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot	2014
Matthieu Miossec Raf Hussain Professor Judith Goodship Professor Bernard Keavney	Investigating the cause of transposition of great arteries	2014
Matthieu Miossec Raf Hussain Dr Thahira Rahman Dr Ana Topf Dr Mauro Santibanez Koref et al.	Investigating the cause of transposition of great arteries; exome sequencing analysis	2014
Dr Mitsushiro Nakatomi Dr Helen Blair Katie MacArthur Dr Victor Ruiz-Perez Professor Judith Goodship et al.	Evc regulates a symmetrical response to Shh signaling in molar development	2013
Dr Elise Glen Dr Ana Topf Professor Judith Goodship	A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti	2013
Valentina Mamasoula Dr Tomasz Pierscionek Dr Darroch Hall Dr Ana Topf Dr Danielle Brown et al.	Association between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7,697 Cases and 13,125 Controls	2013
Dr Lucy Holmes Dr Lisa Turnbull Dr Iain Moore Professor Kevin Marchbank Professor David Kavanagh et al.	Determining the Population Frequency of the CFHR3/CFHR1 Deletion at 1q32	2013
Dr Thahira Rahman Professor Bernard Keavney Professor Judith Goodship	Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7	2013
Professor Heather Cordell Dr Ana Topf Valentina Mamasoula Dr Rebecca Darlay Rachel Soemedi et al.	Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot	2013
Professor Heather Cordell Dr Ana Topf Valentina Mamasoula Rachel Soemedi Dr Ruairidh Martin et al.	Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16	2013
Dr Valerie Wilson Dr Rebecca Darlay Dr Katrina Wood Professor Claire Harris Dr Eva-Maria Hunze et al.	Genotype/Phenotype Correlations in Complement Factor H Deficiency Arising From Uniparental Isodisomy	2013
Dr Lorraine Eley Professor Judith Goodship	Inversin/Nephrocystin-2 Is Required for Fibroblast Polarity and Directional Cell Migration	2013
Addison Palomino Doza Dr Ana Topf Dr John O'Sullivan Professor Caroline Relton Professor Judith Goodship et al.	Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot	2013
Dr Heiko Peters Professor Judith Goodship Dr Victor Ruiz-Perez	The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia	2013
Professor Judith Goodship Dr Darroch Hall Dr Ana Topf Valentina Mamasoula Dr Helen Griffin et al.	A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot	2012
Valentina Mamasoula Dr Tomasz Pierscionek Dr Ana Topf Dr Thahira Rahman Dr John O'Sullivan et al.	Aetiological Role Of Folate Deficiency In Congenital Cardiovascular Malformation: Evidence From "Mendelian Randomisation" And Meta-Analysis	2012
Rachel Soemedi Dr Ian Wilson Dr Rebecca Darlay Dr Ana Topf Dr Simon Zwolinski et al.	Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease	2012
Professor Judith Goodship Dr Victor Ruiz-Perez	Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base	2012
Dr Sally Lynch Professor Judith Goodship Dr Michael Wright Dr Richard Fisher	How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum	2012
Dr Ana Topf Professor Judith Goodship Professor Deborah Henderson Dr John O'Sullivan Professor Bernard Keavney et al.	Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to congenital heart disease	2012
Professor Judith Goodship Professor Bernard Keavney	Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization	2012
Dr Elise Glen Dr Ana Topf Dr Darroch Hall Dr John O'Sullivan Linda Sneddon et al.	Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation	2012
Rachel Soemedi Dr Ana Topf Dr Ian Wilson Dr Rebecca Darlay Dr Thahira Rahman et al.	Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls	2012
Valentina Mamasoula Dr Tomasz Pierscionek Addison Palomino Doza Dr Ana Topf Dr Thahira Rahman et al.	Aetiological role of folate deficiency in congenital heart disease: evidence from Mendelian randomisation and meta-analysis	2011
Professor Judith Goodship Professor Bernard Keavney Dr Mauro Santibanez Koref	Bases adjacent to mononucleotide repeats show an increased single nucleotide polymorphism frequency in the human genome	2011
Dr Helen Blair Dr Stuart Tompson Yu-Ning Liu Dr Jennifer Campbell Katie MacArthur et al.	Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus	2011
Dr Thahira Rahman Professor Judith Goodship Professor Bernard Keavney	Mutations in the sarcamere protein gene MYH7 in Ebstein's anomaly	2011
Dr Thahira Rahman Professor Bernard Keavney Professor Judith Goodship	Mutations in the sarcomere gene MYH7 in Ebstein anomaly	2011
Dr Elise Glen Dr Ana Topf Dr Darroch Hall Dr John O'Sullivan Linda Sneddon et al.	Non-synonymous SMAD6 mutations impaired inhibition of BMP signalling in patients with congenital cardiovascular malformation	2011
Aisling Stewart Professor Heather Cordell Professor Judith Goodship Professor Tim Goodship	Primary, Nonsyndromic Vesicoureteric Reflux and Nephropathy in Sibling Pairs: A United Kingdom Cohort for a DNA Bank	2011
Dr Ana Topf Professor Bernard Keavney Professor Judith Goodship	22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia	2010
Dr Helen Griffin Dr Ana Topf Dr Elise Glen Dr John O'Sullivan Professor Sir John Burn et al.	Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants	2010
Professor Heather Cordell Dr Rebecca Darlay Dr Heather Lambert Professor Tim Goodship Dr Rajko Kenda et al.	Whole-Genome Linkage and Association Scan in Primary, Nonsyndromic Vesicoureteric Reflux	2010
Dr Ana Topf Professor Bernard Keavney Professor Judith Goodship	22q11 Deletions in Adults With Tetralogy of Fallot Are Highly Under Recognized	2009
Dr Victor Ruiz-Perez Professor Judith Goodship	Ellis-van Creveld Syndrome and Weyers Acrodental Dysostosis Are Caused by Cilia-Mediated Diminished Response to Hedgehog Ligands	2009
Dr Helen Blair Dr Stuart Tompson Dr Jennifer Campbell Professor Judith Goodship	Evc and Evc2 are interacting cilia transmembrane proteins that modulate Ihh signalling	2009
Dr Helen Griffin Dr Darroch Hall Dr Ana Topf James Eden Professor Sir John Burn et al.	Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation	2009
Dr Mazhor Aldosary Professor Roger Whittaker Professor Bobby McFarland Professor Judith Goodship Emeritus Professor Doug Turnbull et al.	Neuromuscular disease presentation with three genetic defects involving two genomes	2009
Dr Mazhor Aldosary Professor Roger Whittaker Professor Bobby McFarland Professor Judith Goodship Emeritus Professor Doug Turnbull et al.	Neuromuscular disease presentation with three genetic defects involving two genomes: The characterisation of a novel mitochondrial tRNA mutation exhibiting skewed segregation	2009
Angeline Tan Dr Ana Topf Dr Helen Griffin Raf Hussain James Eden et al.	Role of Genetic Variation in the Transcriptional Inhibitor Protein SMAD6 in the Predispoition to Congenital Cardiovascular Malformation	2009
Professor Judith Goodship Dr Rebecca Darlay Dr Rajko Kenda Professor Heather Cordell	Whole-genome linkage and association scan in primary, non-syndromic vesicoureteric reflux (VUR) and reflux nephropathy	2009
Professor Judith Goodship Dr Victor Ruiz-Perez	Widening the Mutation Spectrum of EVC and EVC2: Ectopic Expression of Weyer Variants in NIH 3T3 Fibroblasts Disrupts Hedgehog Signaling	2009
Dr Matthew Edey Professor David Kavanagh Dr Anne Lampe Professor Judith Goodship Dr Lisa Turnbull et al.	A Novel Non-Synonymous Polymorphism (p.Arg240His) in C4b-Binding Protein Is Associated with Atypical Hemolytic Uremic Syndrome and Leads to Impaired Alternative Pathway Cofactor Activity	2008
Dr Miranda Splitt Professor Judith Goodship	FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality	2008
Professor Judith Goodship Janette Storr	Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57	2008
Professor Judith Goodship Dr Victor Ruiz-Perez	Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in ellis-van Creveld syndrome with borderline intelligence	2008
Professor Andrew Gennery Dr Andrew McLean-Tooke Dr Tara Montgomery Professor Judith Goodship Professor Alastair Burt et al.	Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome	2008
Professor David Kavanagh Dr Matthew Edey Dr Lisa Turnbull Professor Judith Goodship Dr Anne Lampe et al.	A non-synonymous polymorphism (arg240his) in C4b-binding protein is associated with atypical haemolytic uraemic syndrome and leads to impaired alternative pathway cofactor activity	2007
Dr Matthew Edey Dr Lisa Turnbull Professor Judith Goodship Professor Tim Goodship	Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome	2007
Dr Victor Ruiz-Perez Dr Helen Blair Dr Colin Miles Dr Heiko Peters Professor Judith Goodship et al.	Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia	2007
Dr Matthew Edey Dr Lisa Turnbull Professor Judith Goodship Professor Tim Goodship	Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency and affect recognition functions	2007
Dr Helen Griffin Professor Bernard Keavney Professor Judith Goodship	Mutations in the cardiac transcription factor TBX1 may contribute to susceptibility to tetralogy of fallot in patients without 22q11 deletion	2007
Professor Andrew Gennery Professor Mary Slatter Dr Andrew McLean-Tooke Professor Judith Goodship Professor Alastair Burt et al.	Ommenn syndrome may be caused by mutations in the CHD7 gene	2007
Dr Stuart Tompson Dr Victor Ruiz-Perez Dr Helen Blair Dr Michael Wright Professor Judith Goodship et al.	Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients	2007
Professor David Kavanagh Rachel Burgess Professor Judith Goodship Professor Tim Goodship	The decay accelerating factor mutation I197V found in hemolytic uraemic syndrome does not impair complement regulation	2007
Professor Judith Goodship	A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus	2006
Professor Judith Goodship Dr Christopher Wright Professor Andrew Gennery	A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features	2006
Dr Julian Venables Dr Lisa Turnbull Dr David Bourn Dr Martha Lucia Diaz Torres Dr Michael Jackson et al.	Atypical haemolytic uraemic syndrome associated with a hybrid complement gene	2006
Dr Michael Jackson Dr Lisa Turnbull Professor Judith Goodship Dr Liz Kemp Professor Tim Goodship et al.	De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome	2006
Dr Victor Ruiz-Perez Professor Judith Goodship	Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation	2006
Professor David Kavanagh Dr Anna Richards Rachel Burgess Professor Judith Goodship Professor Tim Goodship et al.	Does complement factor B have a role in the pathogenesis of atypical HUS?	2006
Professor Judith Goodship	Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation	2006
Professor Judith Goodship Dr Lisa Turnbull Dr Julian Venables Daniel Routledge Professor Kevin Marchbank et al.	The genomic organisation of the RCA cluster, including CFH, predisposes to gene conversion and nonhomologous recombination as a cause of atypical haemolytic uraemic syndrome	2006
Dr Lorraine Eley Dr Laura Yates Professor Judith Goodship	Cilia and disease	2005
Dr Jennifer Campbell Dr Paul Brennan Professor Judith Goodship	Marfan syndrome: Audit of diagnosis and follow-up arrangements	2005
Dr Stephen Barton Dr David Bourn Professor Judith Goodship Dr Lisa Turnbull Dr Ann Curtis et al.	Mutation screening in Ellis-van Creveld syndrome by direct sequencing: an evaluation of the use of robotics and sequence analysis packages.	2005
Professor Judith Goodship	Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)	2005
Professor David Kavanagh Dr Liz Kemp Professor Judith Goodship Professor Tim Goodship	Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome	2005
Professor Judith Goodship	Prevalence of mutations in X-linked mental retardation genes in familial mental retardation	2005
Katie Lowes Dr Alexei von Delwig Professor Judith Goodship Emeritus Professor Drew Rowan Professor John Robinson et al.	Specificity of CD4 T cell responses to aggrecan in BALB/c and DR1 transgenic mice	2005
Dr Veronique Fremaux-Bacchi Professor Judith Goodship Dr Lisa Turnbull Professor Tim Goodship	The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: Evidence from two independent cohorts	2005
Dr Lisa Turnbull Professor Judith Goodship Professor Tim Goodship	The development of atypical hemolytic uremic syndrome is not influenced by thrombophilia susceptibility factors [15]	2005
Dr Lorraine Eley Lee Turnpenny Dr Laura Yates Scott Craighead David Morgan et al.	A perspective on inversin	2004
Professor Judith Goodship	Ellis-van Creveld Syndrome with Hydrometrocolpos Is Not Linked to Chromosome Arm 4p or 20p	2004
Dr Helen Blair Dr Mark Buddles Dr Ann Curtis Professor Judith Goodship	Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy	2004
Professor Judith Goodship Professor Tim Goodship	Lack of major involvement of human uroplakin genes in vesicoureteral reflux: Implications for disease heterogeneity	2004
Dr Victor Ruiz-Perez Professor Judith Goodship	A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome	2003
Professor Judith Goodship Dr Helen Blair Dr Mark Buddles Dr Ann Curtis	Deficiency of synapsin I, a synaptic vesicle protein, causes epilepsy	2003
Professor Judith Goodship Professor Tim Goodship	Familial haemolytic uraemic syndrome and mutations in membrane cofactor protein (MCP; CD46) of the complement system	2003
Professor Judith Goodship Dr Anne Lampe Professor Tim Goodship	Familial hemolytic uremic syndrome and mutations in membrane cofactor protein (MCP; CD46) of the complement system	2003
Professor Judith Goodship	Head-to-head genes	2003
Professor Judith Goodship Professor Tom Strachan	Inversin mutations cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination	2003
Professor Judith Goodship	Is the novel SCKL3 at 14q23 the predominant Seckel locus?	2003
Professor Judith Goodship	Missense Mutations and Gene Interruption in PROSIT240, a Novel TRAP240-Like Gene, in Patients with Congenital Heart Defect (Transposition of the Great Arteries)	2003
Dr Anna Richards Professor Judith Goodship Dr Anne Lampe Professor Tim Goodship	Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome	2003
Professor Judith Goodship Professor Tom Strachan	Mutations in Inversin cause Nephronophthisis type 2, linking cystic kidney disease to the function of primary cilia and left-right axis determination	2003
Professor Judith Goodship Professor Tom Strachan	Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination	2003
Dr Victor Ruiz-Perez Dr Stuart Tompson Dr Helen Blair Dr Michael Wright Professor Judith Goodship et al.	Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome	2003
Professor Judith Goodship	Successful (?) therapy of hemolytic-uremic syndrome with factor H abnormality	2003
Professor Judith Goodship Professor Deborah Henderson	Cardiac development and cardiovascular malformation	2002
Dr Stuart Tompson Dr Victor Ruiz-Perez Professor Judith Goodship	Ellis- van Creveld: A genetically heterogenous syndrome?	2002
David Morgan Dr Lorraine Eley Professor John Sayer Professor Tom Strachan Dr Laura Yates et al.	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	2002
Professor Judith Goodship Professor Tim Goodship Anne Hattersley	Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1 beta mutations	2002
Professor Judith Goodship Professor Tim Goodship	The genetics and pathogenesis of haemolytic uraemic syndrome and thrombotic thrombocytopenic purpura	2002
Professor Judith Goodship Lee Turnpenny Professor Tom Strachan	The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin	2002
Michael Clarke Dr Keith Mitchell Professor Judith Goodship	Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism	2001
Michael Clarke Professor Judith Goodship	Clinical presentation of a novel TIMP3 mutation causing Sorsbys Fundus Dystrophy.	2001
Dr Mark Buddles Dr Rosemary Donne Professor Judith Goodship Professor Tim Goodship	Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition	2001
Professor Judith Goodship	Hepatocyte Nuclear Factor 1-beta (HNF-1 beta): One gene - how many phenotypes?	2001
Dr John Wolstenholme Dr Stephen Sturgiss Professor Judith Goodship	Maternal uniparental heterodisomy for chromosome 2: Detection through 'atypical' maternal AFP/hCG levels, with an update on a previous case	2001
Professor Judith Goodship	Pre and interdialytic acid-base balance in hemodialysis patients	2001
Dr Norman Balfour-McKie Dr Ann Curtis Professor Judith Goodship Michael Clarke	A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy	2000
Professor Judith Goodship Dr Miranda Splitt Professor Matthew Wright	Autozygosity mapping of a Seckel Syndrome Locus to chromosome 3q22.1-q24	2000
Professor Judith Goodship	Cardiac surgery in the setting of trisomy 13	2000
Dr Mark Buddles Dr Rosemary Donne Amy Richards Professor Judith Goodship Professor Tim Goodship et al.	Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome	2000
Dr Victor Ruiz-Perez Dr Michael Wright Professor Judith Goodship	Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis	2000
Professor Sir John Burn Professor Judith Goodship	Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus	2000
Professor Tim Goodship Professor Judith Goodship	Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1	2000
Professor Judith Goodship Professor Sir John Burn	UFD1L is not the monogenic basis for heart defects-associated with the CATCH phenotype [4]	2000
Dr Mark Buddles Professor Judith Goodship	A family with X-linked epilepsy mapping to Xp11-Xq13	1999
Professor Tim Goodship Professor Judith Goodship	A major locus for vesicoureteric reflux and its nephropathy	1999
Dr Rosemary Donne Professor Judith Goodship Professor Tim Goodship	Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency	1999
Professor Judith Goodship	Genetic counselling: Do we recognise and meet the consultands' agenda?	1999
Dr Miranda Splitt Dr Christopher Wright Debbie Sen Professor Judith Goodship	Left-isomerism sequence and maternal type-1 diabetes	1999
Professor Judith Goodship Professor Tim Goodship	von Willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome	1999
Dr David Wilson Ian Cross Professor Judith Goodship Dr Sally Coulthard Dr Hugh Bain et al.	DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin	1991