Tanya Bardakjian - Concepedia

Author

Tanya Bardakjian

Einstein Medical Center Philadelphia ORCID

Also Known As

Bardakjian, Tanya, Bardakjian, Tanya M, T Bardakjian, T. Bardakjian, T.M. Bardakjian, Tanya Bardakjian, Tanya M Bardakjian, Tanya M. Bardakjian

Publications

Citations

H-Index

Concepts

All Affiliations

Einstein Medical Center Philadelphia University of Pennsylvania Children's Hospital of Wisconsin University of California, San Francisco Medical College of Wisconsin

About

Tanya Bardakjian is an author at Einstein Medical Center Philadelphia specializing in medicine, genetics, and ophthalmology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	13	16	671
2	Public Health	4	4	135
3	Social Sciences	2	2	25
4	Allergy	1	1	101
5	Biostatistics	1	1	45

Tanya Bardakjian

Publications

1.8K

Citations

H-Index

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	Year	Citations
Monogenic variants in dystonia: an exome-wide sequencing study Michael Zech, Robert Jech, Sylvia Boesch, The Lancet Neurology Mendelian DisorderGenetic DisorderGeneticsNeuroscienceMonogenic Variants	2020	206
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome Linda M. Reis, Rebecca C. Tyler, Kala F. Schilter, Human Genetics	2011	118
Novel <i>SOX2</i> mutations and genotype–phenotype correlation in anophthalmia and microphthalmia Adele Schneider, Tanya Bardakjian, Linda M. Reis, American Journal of Medical Genetics Part A	2009	112
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects Emma Hilton, Jennifer J. Johnston, Sandra Whalen, European Journal of Human Genetics Bcor AnalysisClinical DisordersOphthalmologyLenz Microphthalmia SyndromesNeurology	2009	108
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype KF Schilter, A Schneider, Tanya Bardakjian, Clinical Genetics Developmental AnomalyDevelopmental BiologyAllergyMendelian DisorderGenetic Disorder	2010	101
Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice Joe Rainger, Ellen van Beusekom, Jacqueline Ramsay, PLoS Genetics	2011	93
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm Hana Abouzeid, Ghada Gawdat, Anne-Sophie de Preux, Human Molecular Genetics	2013	76
Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease Christopher M. Chou, Christine C. Nelson, Susan A. Tarlé, Cell Ocular DiseaseDevelopmental BiologyOphthalmologyDominant InheritanceVariable Penetrance	2015	74
<i>VAX1</i>mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a<i>VAX1</i>phenotype in humans Anne Slavotinek, Ryan Chao, Hana Abouzeid, Human Mutation	2011	71
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects Anne Slavotinek, Sarah Garcia, Gemma Chandratillake, Clinical Genetics Ocular DiseaseMendelian DisorderOphthalmologyGenetic DisorderExome Sequencing	2014	69

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