Daniela T. Pilz - Concepedia

Author

Daniela T. Pilz

Also Known As

Angela Barnicoat, D Pilz, D T Pilz, D. PILZ, D. Pilz, D. T. Pilz, D.T. Pilz, Daniel M. Barrett, Daniela Pilz, Daniela T Pilz

140

Publications

10.9K

Citations

H-Index

127

Concepts

All Affiliations

University Hospital of Wales Queen Elizabeth University Hospital University of Chicago Cardiff University University College London

About

Daniela T. Pilz is an author at University Hospital of Wales specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	32	40	5.7K
2	Public Health	5	5	785
3	Natural Sciences	4	4	273
4	Education	1	1	128
5	Nursing	1	1	67

Daniela T. Pilz

Publications

8.5K

Citations

H-Index

Page 1

	Year	Citations
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III David B. Simon, Ranjit S. Bindra, Traci A. Mansfield, Nature Genetics ChannelopathiesGenetic DisorderChloride Channel GeneGeneticsPathogenesis	1997	863
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome) Pia Østergaard, Michael A. Simpson, Fiona Connell, Nature Genetics Hematological MalignancyGenetic DisorderMixed-phenotype Acute LeukemiaMalignant Blood DisorderHematology	2011	494
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort Joseph D. Symonds, Sameer M. Zuberi, Kirsty Stewart, Brain Population ChildrenGenetic TestingGenetic DisorderGenetic EpidemiologyPediatrics	2019	433
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation Daniela T. Pilz Human Molecular Genetics	1998	351
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability Katrina Tatton‐Brown, Sheila Seal, Elise Ruark, Nature Genetics Down SyndromeChromatinDevelopmental BiologyMendelian DisorderOvergrowth Syndrome	2014	349
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen, Nature Genetics Baraitser-winter SyndromeGenetic DisorderGeneticsPathogenesisMolecular Genetics	2012	304
Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3 Carlos Cardoso, Richard J. Leventer, Heather L. Ward, The American Journal of Human Genetics Developmental BiologyIsolated LissencephalyMiller-dieker SyndromeGenetic DisorderMendelian Disorder	2003	281
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients Richard J. Leventer, Anna Jansen, Daniela T. Pilz, Brain NeuropsychologyCorticobasal DegenerationNeurological DisorderDiagnosisPathology	2010	257
Differences in the gyral pattern distinguish chromosome 17–linked and X-linked lissencephaly William B. Dobyns, C. L. Truwit, M. Elizabeth Ross, Neurology	1999	224
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants Joseph D. Symonds, Katherine S. Elliott, Jay Shetty, Brain Genetic TestingGenetic EpidemiologyEpidemiologic ResearchPediatric EpidemiologyClinical Epidemiology	2021	214

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