Judith A. Goodship spends much of her time researching Genetics, Mutation, Complement system, Factor H and Atypical hemolytic uremic syndrome. Her studies link Molecular biology with Genetics. Her study in Mutation is interdisciplinary in nature, drawing from both Ellis–van Creveld syndrome, Pedigree chart and Neural crest.
Her Complement system study necessitates a more in-depth grasp of Immunology. Her Immunology study deals with Frameshift mutation intersecting with Candidate gene, Hemolytic uremic syndrome and Pathogenesis. As part of one scientific family, she deals mainly with the area of Atypical hemolytic uremic syndrome, narrowing it down to issues related to the Hemolytic anemia, and often Gene.
Her scientific interests lie mostly in Genetics, Internal medicine, Gene, Mutation and Locus. Her Genetics study frequently links to adjacent areas such as Molecular biology. Judith A. Goodship interconnects Gastroenterology, Endocrinology and Cardiology in the investigation of issues within Internal medicine.
Her work in Chromosome covers topics such as DiGeorge syndrome which are related to areas like Pathology. The study incorporates disciplines such as Atypical hemolytic uremic syndrome and Hemolytic uremic syndrome in addition to Factor H. Atypical hemolytic uremic syndrome is the topic of her studies on Immunology and Complement system.
Genetics, Gene, Exome, Bioinformatics and Exome sequencing are her primary areas of study. Her studies in Genetics integrate themes in fields like Odds ratio and Heart disease. Judith A. Goodship has researched Exome in several fields, including Persistent truncus arteriosus, Phenocopy, Point mutation, Medical genetics and Candidate gene.
Her Exome sequencing research includes themes of Missense mutation, Computational biology and Great arteries. Her studies deal with areas such as Chromosome, Genotyping, Immunology and Locus as well as Single-nucleotide polymorphism. Her work carried out in the field of Penetrance brings together such families of science as Atypical hemolytic uremic syndrome, Factor H and CD46.
The scientist’s investigation covers issues in Genetics, Gene, Exome, Phenotype and Medical genetics. Her Genetics research focuses on Odds ratio and how it connects with Heart disease. Her research in the fields of Missense mutation overlaps with other disciplines such as BMPR1A.
Her Medical genetics research is multidisciplinary, relying on both Young adult, Natural history and Pathological. She focuses mostly in the field of Chromosome, narrowing it down to topics relating to Single-nucleotide polymorphism and, in certain cases, Locus, Gene duplication and Gene rearrangement. Her studies examine the connections between Genetic heterogeneity and genetics, as well as such issues in Epigenetics, with regards to Mutation.
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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
A K Ryan;J A Goodship;D I Wilson;N Philip.
Journal of Medical Genetics (1997)
A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome
Mark O'Driscoll;Victor L Ruiz-Perez;C Geoffrey Woods;Penny A Jeggo.
Nature Genetics (2003)
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
Edgar A. Otto;Bernhard Schermer;Tomoko Obara;John F. O'Toole.
Nature Genetics (2003)
Genetic studies into inherited and sporadic hemolytic uremic syndrome
Paul Warwicker;Timothy H.J. Goodship;Timothy H.J. Goodship;Timothy H.J. Goodship;Rosemary L. Donne;Rosemary L. Donne;Rosemary L. Donne;Yves Pirson;Yves Pirson;Yves Pirson.
Kidney International (1998)
Large-scale discovery of novel genetic causes of developmental disorders
T.W. Fitzgerald;S.S. Gerety;W.D. Jones;M. van Kogelenberg.
DiGeorge syndrome: part of CATCH 22.
D I Wilson;J Burn;P Scambler;J Goodship.
Journal of Medical Genetics (1993)
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
Deborah J G Mackay;Deborah J G Mackay;Jonathan L A Callaway;Jonathan L A Callaway;Sophie M Marks;Helen E White.
Nature Genetics (2008)
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
P.J Scambler;D Kelly;E Lindsay;R Williamson.
The Lancet (1992)
Developmental genetics of the heart
John Burn;Judith Goodship.
Current Opinion in Genetics & Development (1996)
Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome
Anna Richards;Elizabeth J Kemp;M Kathryn Liszewski;Judith A Goodship.
Proceedings of the National Academy of Sciences of the United States of America (2003)
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