Publications by authors named "Judith Goodship"

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Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Kate L Thomson, Elizabeth Ormondroyd, Andrew R Harper, Tim Dent, Karen McGuire, Judith Goodship

Genet Med· July 2019

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Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
Joanna Moss, Jessica Penhallow, Morad Ansari, Stephanie Barton, David Bourn, Judith Goodship

Am J Med Genet A· June 2017

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Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve.
Bo Yang, Wei Zhou, Jiao Jiao, Jonas B Nielsen, Michael R Mathis, Judith A Goodship

Nat Commun· May 2017

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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Alejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, Jeroen Breckpot, Saeed H Al Turki, Judith Goodship

Nat Genet· September 2016

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A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
Neil A Hanchard, Shanker Swaminathan, Kristine Bucasas, Dieter Furthner, Susan Fernbach, Judith A Goodship

Hum Mol Genet· June 2016

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The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
Brian T Wilson, Zornitza Stark, Ruth E Sutton, Sumita Danda, Alka V Ekbote, Judith A Goodship

Genet Med· May 2016

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Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development.
Thor Thorsson, William W Russell, Nour El-Kashlan, Rachel Soemedi, Jonathan Levine, Judith Goodship

Congenit Heart Dis· April 2016

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Functionally significant, rare transcription factor variants in tetralogy of Fallot.
Ana Töpf, Helen R Griffin, Elise Glen, Rachel Soemedi, Danielle L Brown, Judith A Goodship

PLoS One· November 2015

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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Nadia Akawi, Jeremy McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth, Judith Goodship

Nat Genet· November 2015

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Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation.
Richard Howey, Chrysovalanto Mamasoula, Ana Töpf, Ron Nudel, Judith A Goodship

Am J Hum Genet· September 2015

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Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.
Asaf Vivante, Marc-Jens Kleppa, Julian Schulz, Stefan Kohl, Amita Sharma, Judith A Goodship, Timothy H J Goodship

Am J Hum Genet· August 2015

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Association analysis identifies new risk loci for congenital heart disease in Chinese populations.
Yuan Lin, Xuejiang Guo, Bijun Zhao, Juanjuan Liu, Min Da, Judith A Goodship

Nat Commun· August 2015

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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.
José A Caparrós-Martín, Alessandro De Luca, François Cartault, Mona Aglan, Samia Temtamy, Judith A Goodship

Hum Mol Genet· July 2015

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Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.
Emma Montgomery, John A Sayer, Laura A Baines, Ann Marie Hynes, Virginia Vega-Warner, Judith A Goodship

BMC Med Genet· June 2015

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Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.
Ranad Shaheen, Amal Al Hashem, Mohammed H Alghamdi, Mohammed Zain Seidahmad, Salma M Wakil, Judith Goodship

J Med Genet· May 2015

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Urinary tract effects of HPSE2 mutations.
Helen M Stuart, Neil A Roberts, Emma N Hilton, Edward A McKenzie, Sarah B Daly, Judith A Goodship, Timothy H J Goodship

J Am Soc Nephrol· April 2015

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Using population data for assessing next-generation sequencing performance.
Darren T Houniet, Thahira J Rahman, Saeed Al Turki, Matthew E Hurles, Yaobo Xu, Judith Goodship

Bioinformatics· January 2015

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Factors determining penetrance in familial atypical haemolytic uraemic syndrome.
Francis H Sansbury, Heather J Cordell, Coralie Bingham, Gilly Bromilow, Anthony Nicholls, Judith A Goodship, Timothy H J Goodship

J Med Genet· November 2014

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A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti.
Rachel E Towers, Leonardo Murgiano, David S Millar, Elise Glen, Ana Topf, Judith A Goodship

PLoS One· September 2014

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Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32.
Lucy V Holmes, Lisa Strain, Scott J Staniforth, Iain Moore, Kevin Marchbank, Judith A Goodship, Timothy H J Goodship

PLoS One· November 2013

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Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy.
Valerie Wilson, Rebecca Darlay, William Wong, Katrina M Wood, Jeannette McFarlane, Judith A Goodship, Timothy H J Goodship

Am J Kidney Dis· November 2013

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Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls.
Chrysovalanto Mamasoula, R Reid Prentice, Tomasz Pierscionek, Faith Pangilinan, James L Mills, Judith A Goodship

Circ Cardiovasc Genet· August 2013

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A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.
Jennifer Adam, Andrew C Browning, Daniela Vaideanu, Laurence Heidet, Judith A Goodship

Clin Kidney J· August 2013

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Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
Heather J Cordell, Jamie Bentham, Ana Topf, Diana Zelenika, Simon Heath, Judith A Goodship

Nat Genet· July 2013

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Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot.
Julian Palomino Doza, Ana Topf, Jamie Bentham, Shoumo Bhattacharya, Catherine Cosgrove, Judith Goodship

BMC Genet· June 2013

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