Maryam Rafati

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

Tobias Eisenberger, Christine Neuhaus, Arif O. Khan et al. · PLoS ONE · 2013 · 225 citations · Full text

Cnv Analysis, Genetics, Genetic Epidemiology +17

First‐trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined with maternal serum free β‐hCG and PAPP‐A: a 5‐year prospective study

Saeed Reza Ghaffari, Ahmad‐Reza Tahmasebpour, A. Jamal et al. · Ultrasound in Obstetrics and Gynecology · 2011 · 51 citations · Full text

Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes

Lisa J. McReynolds, Maryam Rafati, Youjin Wang et al. · Blood · 2022 · 44 citations · Full text

Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa

Danial Roshandel, Maryam Rafati, Sara Khorami et al. · International Ophthalmology · 2019 · 21 citations

Iranian Patients, Mendelian Disorder, Ophthalmology +4

A novel truncating mutation in the E-cadherin gene in the first Iranian family with hereditary diffuse gastric cancer

Saeed Reza Ghaffari, Maryam Rafati, Tayebeh Sabokbar et al. · European Journal of Surgical Oncology · 2010 · 20 citations

Somatic Variant, Genetics, E-cadherin Gene +7