Mahshid S. Azamian - Concepedia

Author

Mahshid S. Azamian

Also Known As

Ashok Balasubramanyam, Camille L. Birch, David D. Draper, David R. Murdock, Deborah Barbouth, Devon Bonner, Euan A Ashley, Euan A. Ashley, Jim Bale, Justin Alvey

116

Publications

3.5K

Citations

H-Index

Concepts

All Affiliations

Baylor College of Medicine Texas Children's Hospital Baylor Genetics Duke University Columbia University

About

Mahshid S. Azamian is an author at Baylor College of Medicine specializing in medicine, genetics, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	17	1.2K
2	Engineering	2	2	261
3	Health Sciences	1	1	29
4	Natural Sciences	1	1	18
5	Public Health	1	1	29

Mahshid S. Azamian

Publications

2.5K

Citations

H-Index

Page 1

	Year	Citations
Use of Exome Sequencing for Infants in Intensive Care Units Linyan Meng, Mohan Pammi, Anirudh Saronwala, JAMA Pediatrics	2017	422
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
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease Rachel Ramoni, John J. Mulvihill, David R. Adams, The American Journal of Human Genetics Disease DiagnosisNetwork ScienceHealth InformaticsData ScienceData Mining	2017	181
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld, The American Journal of Human Genetics Bi-allelic Tango2 MutationsCardiac MuscleCardiomyopathyCardiovascular DiseaseMedicine	2016	139
IRF2BPL Is Associated with Neurological Phenotypes Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, The American Journal of Human Genetics NeurologyNeuroscienceMolecular NeurobiologyNeuropathologyMedicine	2018	108
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome Seema R. Lalani, Jing Zhang, Christian P. Schaaf, The American Journal of Human Genetics Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2014	105
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay Keren Machol, Justine Rousseau, Sophie Ehresmann, The American Journal of Human Genetics	2018	88
Genetic architecture of laterality defects revealed by whole exome sequencing Alexander Li, Neil A. Hanchard, Mahshid S. Azamian, European Journal of Human Genetics Developmental AnomalyDevelopmental BiologyGenetic DisorderGeneticsWhole Exome Sequencing	2019	82
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative Vandana Shashi, Kelly Schoch, Rebecca C. Spillmann, Genetics in Medicine EngineeringMedicineComprehensive Iterative ApproachDiagnosisPathology	2018	80
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans Francesco Vetrini, Lisa C.A. D’Alessandro, Zeynep Coban‐Akdemir, The American Journal of Human Genetics Bi-allelic MutationsAllelic VariantGenetic DisorderPkd1l1 Are AssociatedGenetics	2016	79

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