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Masoud Garshasbi

Position - Company  
Researcher - Max Planck Institute for Molecular Genetics Feb 2004 - Nov 2011
Degree - University  
PhD, Human Genetics - Max Planck Institute for Molecular Genetics 2004 - 2009
Publication Info
Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability. Abbasi-Moheb L, Mertel S, Gonsior M, Nouri-Vahid L, Kahrizi K, Cirak S, Wieczorek D and 11 others Am J Hum Genet. 90(5):847-55. doi: 10.1016/j.ajhg.2012.03.021. May 4, 2012. View on PubMed.
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M and 38 others Nature. 478(7367):57-63. doi: 10.1038/nature10423. September 21, 2011. View on PubMed.
ST3GAL3 mutations impair the development of higher cognitive functions. Hu H, Eggers K, Chen W, Garshasbi M, Motazacker MM, Wrogemann K, Kahrizi K and 9 others Am J Hum Genet. 89(3):407-14. doi: 10.1016/j.ajhg.2011.08.008. September 9, 2011. View on PubMed.
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. Pak C, Garshasbi M, Kahrizi K, Gross C, Apponi LH, Noto JJ, Kelly SM and 20 others Proc Natl Acad Sci U S A. 108(30):12390-5. doi: 10.1073/pnas.1107103108. July 26, 2011. View on PubMed.
Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability. Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H and 17 others Am J Hum Genet. 89(1):176-82. doi: 10.1016/j.ajhg.2011.06.006. July 15, 2011. View on PubMed.
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. Garshasbi M, Kahrizi K, Hosseini M, Nouri Vahid L, Falah M, Hemmati S, Hu H and 4 others Am J Med Genet A. 155(8):1976-80. doi: 10.1002/ajmg.a.34077. July 7, 2011. View on PubMed.
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Ropers F, Derivery E, Hu H, Garshasbi M, Karbasiyan M, Herold M, Nürnberg G and 5 others Hum Mol Genet. 20(13):2585-90. doi: 10.1093/hmg/ddr158. July 1, 2011. View on PubMed.
Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis. Timmermann B, Kerick M, Roehr C, Fischer A, Isau M, Boerno ST, Wunderlich A and 13 others PLoS One. 5(12):e15661. doi: 10.1371/journal.pone.0015661. December 22, 2010. View on PubMed.
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L and 23 others Hum Genet. 129(2):141-8. doi: 10.1007/s00439-010-0907-3. November 10, 2010. View on PubMed.
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. Darvish H, Esmaeeli-Nieh S, Monajemi GB, Mohseni M, Ghasemi-Firouzabadi S, Abedini SS, Bahman I and 19 others J Med Genet. 47(12):823-8. doi: 10.1136/jmg.2009.076398. October 26, 2010. View on PubMed.
Cohen syndrome diagnosis using whole genome arrays. Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB and 8 others J Med Genet. 48(2):136-40. doi: 10.1136/jmg.2010.082206. October 4, 2010. View on PubMed.
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Kahrizi K, Hu CH, Garshasbi M, Abedini SS, Ghadami S, Kariminejad R, Ullmann R and 5 others Eur J Hum Genet. 19(1):115-7. doi: 10.1038/ejhg.2010.132. August 11, 2010. View on PubMed.
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC and 11 others Am J Hum Genet. 86(6):949-56. doi: 10.1016/j.ajhg.2010.04.012. June 11, 2010. View on PubMed.
Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function. Trimborn M, Ghani M, Walther DJ, Dopatka M, Dutrannoy V, Busche A, Meyer F and 14 others PLoS One. 5(2):e9242. doi: 10.1371/journal.pone.0009242. February 16, 2010. View on PubMed.
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. Türkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah AJ, Mischung C, Kuss A, Humphrey N, Mundlos S, Robinson PN PLoS Genet. 5(5):e1000487. doi: 10.1371/journal.pgen.1000487. May 22, 2009. View on PubMed.
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Seifert W, Holder-Espinasse M, Kühnisch J, Kahrizi K, Tzschach A, Garshasbi M, Najmabadi H and 11 others Hum Mutat. 30(2):E404-20. doi: 10.1002/humu.20886. February 2009. View on PubMed.
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4. Kahrizi K, Najmabadi H, Kariminejad R, Jamali P, Malekpour M, Garshasbi M, Ropers HH, Kuss AW, Tzschach A Eur J Hum Genet. 17(1):125-8. doi: 10.1038/ejhg.2008.159. September 10, 2008. View on PubMed.
Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients. Tzschach A, Bozorgmehr B, Hadavi V, Kahrizi K, Garshasbi M, Motazacker MM, Ropers HH, Kuss AW, Najmabadi H Br J Dermatol. 159(3):748-51. doi: 10.1111/j.1365-2133.2008.08719.x. July 4, 2008. View on PubMed.
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW Am J Hum Genet. 82(5):1158-64. doi: 10.1016/j.ajhg.2008.03.018. May 2008. View on PubMed.
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. Moheb LA, Tzschach A, Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH, Kuss AW Eur J Hum Genet. 16(2):270-3. doi: 10.1038/sj.ejhg.5201967. November 28, 2007. View on PubMed.
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS and 9 others Am J Hum Genet. 81(4):792-8. doi: 10.1086/521275. August 31, 2007. View on PubMed.
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Najmabadi H, Motazacker MM, Garshasbi M, Kahrizi K, Tzschach A, Chen W, Behjati F and 14 others Hum Genet. 121(1):43-8. doi: 10.1007/s00439-006-0292-0. November 21, 2006. View on PubMed.
Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy. Dadgar S, Hagens O, Dadgar SR, Haghighi EN, Schimpf S, Wissinger B, Garshasbi M Exp Eye Res. 83(3):702-6. doi: 10.1016/j.exer.2006.03.004. May 12, 2006. View on PubMed.
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG and 11 others Hum Genet. 118(6):708-15. doi: 10.1007/s00439-005-0104-y. November 26, 2005. View on PubMed.
Association of the dopamine transporter gene (DAT1) core promoter polymorphism -67T variant with schizophrenia. Khodayari N, Garshasbi M, Fadai F, Rahimi A, Hafizi L, Ebrahimi A, Najmabadi H, Ohadi M Am J Med Genet B Neuropsychiatr Genet. 129B(1):10-2. doi: 10.1002/ajmg.b.30067. August 15, 2004. View on PubMed.
alpha-globin gene deletion and point mutation analysis among in Iranian patients with microcytic hypochromic anemia. Garshasbi M, Oberkanins C, Law HY, Neishabury M, Kariminejad R, Najmabadi H Haematologica. 88(10):1196-7. October 2003. View on PubMed.
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