Daniel Doherty - Concepedia

Author

Daniel Doherty

Also Known As

Argenia L. Doss, D.A. Doherty, DANIEL DOHERTY, Daniel A Doherty, Daniel A. Doherty, Daniel Doherty, Daniel A. Doherty, Dawn Earl, Katrina Dipple, Laura Duncan

Publications

1.6K

Citations

H-Index

Concepts

All Affiliations

National Institutes of Health University of Washington Boston Children's Hospital University of Utah Columbia University

About

Daniel Doherty is an author at National Institutes of Health specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	905
2	Social Sciences	2	2	61
3	Cell Biology	2	2	805
4	Genomic Medicine	1	1	39
5	Molecular Biology	1	1	617

Daniel Doherty

Publications

1.2K

Citations

H-Index

Page 1

	Year	Citations
Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways Liyun Sang, Julie J. Miller, Kevin C. Corbit, Cell Molecular NeuroscienceDisease MechanismGliomaMolecular BiologyComplex Disease	2011	617
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium Ji Eun Lee, Jennifer L. Silhavy, Maha S. Zaki, Nature Genetics Mendelian DisorderJoubert SyndromeGenetic DisorderGeneticsPathology	2012	188
Prospective Evaluation of Kidney Disease in Joubert Syndrome Leah Fleming, Daniel Doherty, Melissa A. Parisi, Clinical Journal of the American Society of Nephrology	2017	74
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids Sacha Ferdinandusse, Kirsty McWalter, Heleen te Brinke, Genetics in Medicine	2020	49
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata, Genetics in Medicine Neurobiology Of DiseaseCorticobasal DegenerationNeurological DisorderIsolated Neurological ManifestationsPathology	2021	47
Beyond Gómez‐López‐Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis Hannah M. Tully, Jennifer C. Dempsey, Gisele E. Ishak, American Journal of Medical Genetics Part A	2012	45
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science Kelly Schoch, Cecilia Esteves, Anna Bican, Genetics in Medicine Undiagnosed Diseases NetworkTranslational BioinformaticsMedicineGeneticsGenetic Epidemiology	2020	39
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases Shilpa N. Kobren, Dustin Baldridge, Matt Velinder, Genetics in Medicine	2021	32
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain Felix Marbach, Georgi Stoyanov, Florian Erger, Genetics in Medicine	2021	27
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 Thomas A. Ravenscroft, Jennifer B. Phillips, Elizabeth L. Fieg, Genetics in Medicine	2021	26

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