Donna M. Muzny - Concepedia

Author

Donna M. Muzny

Also Known As

A. Yoder, B. Ferguson, C. Buhay, Christina G.S. Palmer, Christine M. Eng, Clare V Logan, Claudia Gonzaga-Jauregui, D M Muzny, D. Muzny, Donna M Muzny

134

Publications

18.8K

Citations

H-Index

117

Concepts

All Affiliations

Baylor College of Medicine Baylor Genetics Texas Children's Hospital The University of Texas Health Science Center at Houston Neurological Research Institute

About

Donna M. Muzny is an author at Baylor College of Medicine specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	38	44	5K
2	Public Health	4	4	440
3	Engineering	2	2	261
4	Health Sciences	1	1	57
5	Natural Sciences	1	1	79

Donna M. Muzny

Publications

10.4K

Citations

H-Index

Page 1

	Year	Citations
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing Yaping Yang, Donna M. Muzny, Fan Xia, JAMA	2014	1.4K
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation Jennifer E. Posey, Tamar Harel, Pengfei Liu, New England Journal of Medicine	2016	752
Use of Exome Sequencing for Infants in Intensive Care Units Linyan Meng, Mohan Pammi, Anirudh Saronwala, JAMA Pediatrics	2017	422
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis Levi B. Watkin, Birthe Jessen, Wojciech Wiszniewski, Nature Genetics Rheumatoid DisorderRheumatologyInflammatory Lung DiseaseAutoimmune DiseaseDisease Mechanism	2015	385
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease Ender Karaca, Tamar Harel, Davut Pehli̇van, Neuron	2015	332
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Journal of Allergy and Clinical Immunology Primary ImmunodeficiencyMendelian DisorderAutoimmune DiseaseMedicineImmunology	2016	269
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies Hemant Khanna, Erica E. Davis, Carlos Murga‐Zamalloa, Nature Genetics Ocular DiseaseCommon AlleleRetinaOphthalmologyGenetics	2009	267
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy Claudia Gonzaga‐Jauregui, Tamar Harel, Tomasz Gambin, Cell Reports	2015	240
Molecular diagnostic experience of whole-exome sequencing in adult patients Jennifer E. Posey, Jill A. Rosenfeld, Regis A. James, Genetics in Medicine Molecular Diagnostic TechniquesSequencingMedicineNext-generation SequencingGynecology	2015	235
Lessons learned from additional research analyses of unsolved clinical exome cases Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Tamar Harel, Genome Medicine	2017	230

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