Cynthia J. Tifft - Concepedia

Author

Cynthia J. Tifft

National Human Genome Research Institute ORCID

Also Known As

Adeline Vanderver, Alyssa A. Tran, Anastasia L. Wise, Audrey Thurm, C Tifft, C. J. Tifft, C. Tifft, C.J. Tifft, Chris A. Walsh, Colleen E Wahl

310

Publications

11.5K

Citations

H-Index

154

Concepts

All Affiliations

National Human Genome Research Institute National Institutes of Health Children's National Office of the Director Baylor College of Medicine

About

Cynthia J. Tifft is an author at National Human Genome Research Institute specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	34	57	5K
2	Natural Sciences	4	4	379
3	Public Health	4	4	344
4	Engineering	2	3	442
5	Health Sciences	1	1	20

Cynthia J. Tifft

102

Publications

Citations

H-Index

Page 1

	Year	Citations
Pompe disease diagnosis and management guideline Priya S. Kishnani, Robert D. Steiner, Deeksha Bali, Genetics in Medicine Clinical FindingMedicineVeterinary ScienceDiagnosisPathology	2006	612
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta Wayne A. Cabral, Weizhong Chang, Aileen M. Barnes, Nature Genetics Bone DiseaseDevelopmental BiologyProlyl 3-Hydroxylase 1Lethal/severe Osteogenesis ImperfectaMetabolic Bone Disease	2007	477
Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation Ryuichi Wada, Cynthia J. Tifft, Richard L. Proia Proceedings of the National Academy of Sciences	2000	398
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease Kimberly Splinter, David R. Adams, Carlos A. Bacino, New England Journal of Medicine	2018	359
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR David Ng, Nalin Thakker, Connie M. Corcoran, Nature Genetics Mendelian DisorderLenz Microphthalmia SyndromesDistinct ClassesGeneticsPhysiology	2004	320
<i>GRIN2A</i> mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine Tyler Mark Pierson, Hongjie Yuan, Eric D. Marsh, Annals of Clinical and Translational Neurology	2014	292
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases William A. Gahl, Thomas C. Markello, Camilo Toro, Genetics in Medicine Disease DiagnosisRare DiseasesMedicinePathogenesisGenetic Epidemiology	2012	287
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases Adriana A. de Jesus, Yangfeng Hou, Stephen R. Brooks, Journal of Clinical Investigation Inflammatory Lung DiseaseChronic InterferonLung InflammationImmunodeficienciesImmunology	2019	227
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases Tyler Mark Pierson, David R. Adams, Florian Bonn, PLoS Genetics Neurodegenerative DiseasesPeripheral NeuropathyMendelian DisorderGenetic DisorderMedicine	2011	226
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome Julia Wang, Rami Al‐Ouran, Yanhui Hu, The American Journal of Human Genetics	2017	217

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