Publications 2024

Gilani N, Bitarafan F, Ozaslan M, Åsheim S, Heidari M, Garshasbi M (2024)
Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature
Mol Genet Genomic Med, 12 (6), e2476
DOI 10.1002/mgg3.2476, PubMed 38888203

Misceo D, Strømme P, Bitarafan F, Chawla MS, Sheng Y, Bach de Courtade SM, Eide L, Frengen E (2024)
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome
Genes (Basel), 15 (4)
DOI 10.3390/genes15040500, PubMed 38674434

Publications 2023

Bitarafan F, Khodaeian M, Garrousi F, Khalesi R, Ghazi Nader D, Karimi B, Alibakhshi R, Garshasbi M (2023)
Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report
BMC Endocr Disord, 23 (1), 155
DOI 10.1186/s12902-023-01388-1, PubMed 37474955

Bitarafan F, Razmara E, Jafarinia E, Almadani N, Garshasbi M (2023)
A biallelic variant in POLR2C is associated with congenital hearing loss and male infertility: Case report
Eur J Clin Invest, 53 (4), e13946
DOI 10.1111/eci.13946, PubMed 36576366

Khodaeian M, Bitarafan F, Garrousi F, Sardehie EA, Pak N, Hosseinpour S, Shakiba M, Falah M, Garshasbi M, Tavasoli AR (2023)
Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage
J Clin Lab Anal, 37 (21-22), e24983
DOI 10.1002/jcla.24983, PubMed 37950505

Publications 2021

Bitarafan F, Hekmat MR, Khodaeian M, Razmara E, Ashrafganjoei T, Modares Gilani M, Mohit M, Aminimoghaddam S, Cheraghi F, Khalesi R, Rajabzadeh P, Sarmadi S, Garshasbi M (2021)
Prevalence and Genotype Distribution of Human Papillomavirus Infection among 12 076 Iranian Women
Int J Infect Dis, 111, 295-302
DOI 10.1016/j.ijid.2021.07.071, PubMed 34343706

Bitarafan F, Khodaeian M, Amjadi Sardehaei E, Darvishi FZ, Almadani N, Nilipour Y, Garshasbi M (2021)
Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family
Mol Cell Pediatr, 8 (1), 6
DOI 10.1186/s40348-021-00116-w, PubMed 33969448

Jamali E, Khalesi R, Bitarafan F, Almadani N, Garshasbi M (2021)
Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia
Iran Biomed J, 25 (4), 297-302
DOI 10.52547/ibj.25.4.297, PubMed 34217160

Khodaeian M, Jafarinia E, Bitarafan F, Shafeii S, Almadani N, Daneshmand MA, Garshasbi M (2021)
Kabuki Syndrome: Identification of Two Novel Variants in KMT2D and KDM6A
Mol Syndromol, 12 (2), 118-126
DOI 10.1159/000513199, PubMed 34012382

Publications 2020

Bitarafan F, Razmara E, Khodaeian M, Keramatipour M, Kalhor A, Jafarinia E, Garshasbi M (2020)
Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome
Mol Genet Genomic Med, 8 (8), e1274
DOI 10.1002/mgg3.1274, PubMed 32431097

Bitarafan F, Seyedena SY, Mahmoudi M, Garshasbi M (2020)
Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing
J Clin Lab Anal, 34 (12), e23544
DOI 10.1002/jcla.23544, PubMed 32864763

Sepahvand A, Razmara E, Bitarafan F, Galehdari M, Tavasoli AR, Almadani N, Garshasbi M (2020)
A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family
Mol Genet Genomic Med, 8 (10), e1413
DOI 10.1002/mgg3.1413, PubMed 32697043

Zardadi S, Razmara E, Asgaritarghi G, Jafarinia E, Bitarafan F, Rayat S, Almadani N, Morovvati S, Garshasbi M (2020)
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss
Mol Genet Genomic Med, 8 (12), e1550
DOI 10.1002/mgg3.1550, PubMed 33205915

Publications 2019

Bitarafan F, Garshasbi M (2019)
Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease
J Res Med Sci, 24, 44
DOI 10.4103/jrms.JRMS_835_18, PubMed 31160911

Bitarafan F, Khodaeian M, Almadani N, Kalhor A, Sardehaei EA, Garshasbi M (2019)
Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay
Fetal Pediatr Pathol, 40 (2), 174-180
DOI 10.1080/15513815.2019.1686784, PubMed 31707899

Publications 2018

Bitarafan F, Garshasbi M (2018)
Molecular Genetic Analysis of PKHD1 Mutations in Pedigrees With Autosomal Recessive Polycystic Kidney Disease
Iran J Kidney Dis, 12 (6), 350-358
PubMed 30595564

Hasani-Ranjbar S, Ejtahed HS, Amoli MM, Bitarafan F, Qorbani M, Soltani A, Yarjoo B (2018)
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria
J Clin Res Pediatr Endocrinol, 10 (4), 343-349
DOI 10.4274/jcrpe.0057, PubMed 29809158

Razmara E, Bitarafan F, Esmaeilzadeh-Gharehdaghi E, Almadani N, Garshasbi M (2018)
The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families
Iran J Basic Med Sci, 21 (3), 333-341
DOI 10.22038/IJBMS.2018.26269.6441, PubMed 29511501

Publications 2017

Abbasi F, Habibi M, Enayati S, Bitarafan F, Razzaghy-Azar M, Sotodeh A, Omran SP, Maroofian R, Amoli MM (2017)
A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Children With Neonatal Diabetes
Can J Diabetes, 42 (3), 272-275
DOI 10.1016/j.jcjd.2017.06.009, PubMed 28843469

Bitarafan F, Khodaeian M, Tabatabaei-Malazy O, Amoli MM (2017)
Influence of antioxidants' gene variants on risk of diabetes mellitus and its complications: a systematic review
Minerva Endocrinol, 44 (3), 310-325
DOI 10.23736/S0391-1977.17.02632-3, PubMed 28548478

Sailani MR, Jingga I, MirMazlomi SH, Bitarafan F, Bernstein JA, Snyder MP, Garshasbi M (2017)
Isolated Congenital Anosmia and CNGA2 Mutation
Sci Rep, 7 (1), 2667
DOI 10.1038/s41598-017-02947-y, PubMed 28572688

Tabatabaei-Malazy O, Khodaeian M, Bitarafan F, Larijani B, M Amoli M (2017)
Polymorphisms of Antioxidant Genes as a Target for Diabetes Management
Int J Mol Cell Med, 6 (3), 135-147
DOI 10.22088/acadpub.BUMS.6.3.135, PubMed 29682485