Tanya Bardakjian

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch et al. · The Lancet Neurology · 2020 · 206 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

Linda M. Reis, Rebecca C. Tyler, Kala F. Schilter et al. · Human Genetics · 2011 · 118 citations · Full text

Novel <i>SOX2</i> mutations and genotype–phenotype correlation in anophthalmia and microphthalmia

Adele Schneider, Tanya Bardakjian, Linda M. Reis et al. · American Journal of Medical Genetics Part A · 2009 · 112 citations · Full text

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 et al. · European Journal of Human Genetics · 2009 · 108 citations · Full text

Bcor Analysis, Clinical Disorders, Ophthalmology +5

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

KF Schilter, A Schneider, Tanya Bardakjian et al. · Clinical Genetics · 2010 · 101 citations

Developmental Anomaly, Developmental Biology, Allergy +14