Sarah Ball - Concepedia

Author

Sarah Ball

University College London

Also Known As

S Ball, S P Ball, S. BALL, S. Ball, S. P. BALL, S. P. Ball, S.P. BALL, S.P. Ball, Sarah Ball, Sarah P Ball

Publications

1.2K

Citations

H-Index

Concepts

All Affiliations

University College London Birmingham Children's Hospital University of Oxford St. Mary's Hospital St Mary's Hospital

About

Sarah Ball is an author at University College London specializing in medicine, molecular genetics, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	670
2	Cell Biology	3	3	365
3	Natural Sciences	1	1	35
4	Public Health	1	1	32
5	Biology	1	1	54

Sarah Ball

Publications

1.1K

Citations

H-Index

Page 1

	Year	Citations
Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human Amanda E. Toland, Paraskevi Briassouli, John P. de Koning, Nature Genetics OncologyMedicinePathologyCancer GenomicsCancer Biology	2003	320
Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood Clara D.M. van Karnebeek, William S. Sly, Colin J.D. Ross, The American Journal of Human Genetics	2014	104
Localization of the gene for X‐linked spinal muscular atrophy Kenneth H. Fischbeck, Victor Ionâşescu, Albert W. Ritter, Neurology Mendelian DisorderGenetic DisorderMedicineGeneticsLinkage Analysis	1986	84
Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe. Kay E. Davies, J Jackson, R. Williamson, Journal of Medical Genetics Allelic VariantMyotonic Dystrophy FamiliesMendelian DisorderGenetic DisorderMedicine	1983	75
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene Johanna Uusimaa, Julie Evans, Conrad Smith, European Journal of Human Genetics	2013	70
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1 Francesca Angileri, Anne Bergeron, Geneviève Morrow, JIMD Reports	2014	69
Linkage between dentinogenesis imperfecta and <i>Gc</i> Sarah Ball, P.J.L. Cook, Maurice Mars, Annals of Human Genetics BiologyAllelic VariantDevelopmental BiologyDentinogenesis ImperfectaCytogenetics	1982	54
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure Patrick McKiernan, Sarah Ball, Saikat Santra, Journal of Pediatric Gastroenterology and Nutrition	2016	54
The human chromosome 19 linkage group FUT1 (H), FUT2 (SE), LE, LU, PEPD, C3, APOC2, D19S7 and D19S9 Sarah Ball, Nicholas Tongue, Anne Gibaud, Annals of Human Genetics Human Chromosome 19CytogeneticsGeneticsMolecular BiologyMolecular Genetics	1991	35
Genetic linkage between the loci for myotonic dystrophy and peptidase D T O'Brien, Sarah Ball, M. Sarfarazi, Annals of Human Genetics	1983	35

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