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maryam rafati
maryam rafati
National Cancer Institute, National Institutes of Health (NIH)
Verified email at nih.gov
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Year
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
T Eisenberger, C Neuhaus, AO Khan, C Decker, MN Preising, ...
PloS one 8 (11), e78496, 2013
2392013
First‐trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined …
SR Ghaffari, AR Tahmasebpour, A Jamal, S Hantoushzadeh, L Eslamian, ...
Ultrasound in obstetrics & gynecology 39 (5), 528-534, 2012
902012
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes
LJ McReynolds, M Rafati, Y Wang, BJ Ballew, J Kim, VV Williams, W Zhou, ...
Blood, The Journal of the American Society of Hematology 140 (8), 909-921, 2022
272022
A novel truncating mutation in the E-cadherin gene in the first Iranian family with hereditary diffuse gastric cancer
SR Ghaffari, M Rafati, T Sabokbar, J Dastan
European Journal of Surgical Oncology (EJSO) 36 (6), 559-562, 2010
272010
Her2 amplification status in Iranian breast cancer patients: comparison of immunohistochemistry (IHC) and fluorescence in situ hybridisation (FISH)
SR Ghaffari, T Sabokbar, J Dastan, M Rafati, S Moossavi
Asian Pac J Cancer Prev 12 (4), 1031-4, 2011
202011
" Familial" versus" Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes
M Rafati, E Seyyedaboutorabi, MR Ghadirzadeh, Y Heshmati, H Adibi, ...
Molecular cytogenetics 5, 1-5, 2012
162012
Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa
D Roshandel, M Rafati, S Khorami, N Novin Baheran, S Jalali, ...
International Ophthalmology 39, 2523-2531, 2019
142019
A 0.65 V, linearized cascade UWB LNA by application of modified derivative superposition technique in 130 nm CMOS technology
M Rafati, SR Qasemi, P Amiri
Analog Integrated Circuits and Signal Processing 99, 693-706, 2019
132019
Phytoextraction and phytostabilization potential of cadmium, chromium and nickel by Populus alba and Morus alba species.
M Rafati, N Khorasani, F Moraghebi, A Shirvany
112012
Tracing human papilloma virus in breast tumors of Iranian breast cancer patients.
SR Ghaffari, T Sabokbar, Z Meshkat, F Fereidooni, J Dastan, M Rafati, ...
Breast Journal 17 (2), 2011
112011
Preimplantation high-resolution HLA sequencing using next generation sequencing
M Rafati, MM Akhondi, MR Sadeghi, SZ Tara, SR Ghaffari
Biology of Blood and Marrow Transplantation 24 (8), 1575-1580, 2018
102018
Identification of ten large deletions and one duplication in the F8 gene of eleven unrelated Iranian severe haemophilia A families using the multiplex ligation …
M Rafati, S Ravanbod, A Hoseini, M Rassoulzadegan, M Jazebi, ...
Haemophilia 17 (4), 705-707, 2011
102011
A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia
M Rafati, F Mohamadhashem, A Hoseini, F Hoseininasab, SR Ghaffari
European Journal of Medical Genetics 59 (6-7), 330-336, 2016
92016
" Familial" versus" sporadic" intellectual disability: contribution of subtelomeric rearrangements
M Rafati, MR Ghadirzadeh, Y Heshmati, H Adibi, Z Keihanidoust, ...
Molecular Cytogenetics 5, 1-8, 2012
82012
Primary ovarian insufficiency with t (5; 13): a case report and literature review on disrupted genes
F Mohamadhashem, M Rafati, F Hoseininasab, S Rostami, R Tabatabaie, ...
Climacteric 20 (5), 498-502, 2017
72017
Prenatal diagnosis of tyrosinemia type 1 using next generation sequencing
M Rafati, F Mohamadhashem, A Hoseini, SD Ramandi, SR Ghaffari
Fetal and Pediatric Pathology 35 (4), 282-285, 2016
72016
DFT study of the interaction energy between thioglycoluril clip and phenol derivatives
S Yahyaei, E Vessally, B Massoumi, M Rafati
Phosphorus, Sulfur, and Silicon and the Related Elements 189 (9), 1417-1422, 2014
72014
Familial intellectual disability in an Iranian family with a novel truncating mutation in CEP290.
SR Ghaffari, M Rafati, G Ghaffari, M Morra, M Tekin
Clinical genetics 86 (4), 387-390, 2013
72013
Heterozygosity assessment of five STR loci located at 5q13 region for preimplantation genetic diagnosis of spinal muscular atrophy
A Korzebor, P Derakhshandeh-Peykar, M Meshkani, A Hoseini, M Rafati, ...
Molecular biology reports 40, 67-72, 2013
72013
Novel human pathological mutations. Gene symbol: CDH1. Disease: gastric cancer.
SR Ghaffari, J Dastan, M Rafati, T Sabokbar
Human genetics 125 (3), 337-337, 2009
72009
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