Ruth Williams - Concepedia

Author

Ruth Williams

Also Known As

Jennifer Jensen, R Williams, R. E. Williams, R. Williams, R.E Williams, RUTH WILLIAMS, Ruth E Williams, Ruth E. Williams, Ruth Williams, Williams, Ruth

Publications

3.1K

Citations

H-Index

Concepts

All Affiliations

University College London Evelina London Children's Healthcare The University of Adelaide Great Ormond Street Hospital Guy's and St Thomas' NHS Foundation Trust

About

Ruth Williams is an author at University College London specializing in medicine, pathology, and neuropathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	14	16	1.3K
2	Engineering	2	2	179
3	Health Sciences	2	2	255
4	Natural Sciences	1	1	101
5	Public Health	1	1	10

Ruth Williams

Publications

2.3K

Citations

H-Index

Page 1

	Year	Citations
Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens Yael Hacohen, Sukhvir Wright, Patrick Waters, Journal of Neurology Neurosurgery & Psychiatry	2012	258
NCL diseases — clinical perspectives Angela Schulz, Alfried Kohlschütter, Jonathan W. Mink, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease Clinical Disorders— Clinical PerspectivesDisease MechanismHematologyPathology	2013	242
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses Ruth Williams, Sara Mole Neurology Neuronal Ceroid LipofuscinosesNeuro-oncologyYoung PeopleNeuroanatomyPathology	2012	231
The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein Ruth B. Wheeler, Julie D. Sharp, Roger A. Schultz, The American Journal of Human Genetics Molecular NeuroscienceDevelopmental BiologyEpendymaPathologyCraniofacial Development	2002	201
Repairing a critical-sized bone defect with highly porous modified and unmodified baghdadite scaffolds Seyed‐Iman Roohani‐Esfahani, Colin R. Dunstan, B. Davies, Acta Biomaterialia Tissue EngineeringMaterials ScienceRegenerative MedicineSynthetic Bone SubstituteEngineering	2012	121
Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker Peter J. Meikle, Doug A. Brooks, Elaine M. Ravenscroft, Clinical Chemistry GeneticsPathologyMolecular BiologyLysosomal Storage DisordersDermatology	1997	101
Spectrum of<i>CLN6</i>mutations in variant late infantile neuronal ceroid lipofuscinosis Julie D. Sharp, Ruth B. Wheeler, Keith A. Parker, Human Mutation Neuronal Ceroid LipofuscinosesDevelopmental AnomalyMolecular NeuroscienceDevelopmental BiologySomatic Variant	2003	79
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis Chiara Aiello, Alessandro Simonati, Giancarlo Discepoli, Human Mutation GeneticsPathologyDisease Gene IdentificationAffected ChildrenNeuro-oncology	2009	70
The clinical utility of an <i>SCN1A</i> genetic diagnosis in infantile‐onset epilepsy Andreas Brunklaus, Liam Dorris, Rachael Ellis, Developmental Medicine & Child Neurology	2012	69
Incorporating epilepsy genetics into clinical practice: a 360°evaluation Stephanie Oates, Shan Tang, Richard Rosch, npj Genomic Medicine	2018	65

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