1) Najmabadi H, Hu H*, Garshasbi M*(equally contributed), Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011 Sep 21; 478(7367): 57-63.
2) Hu H, Eggers K, Chen W, Garshasbi M, Motazacker MM, Wrogemann K, Kahrizi K, Tzschach A, Hosseini M, Bahman I, Hucho T, Mühlenhoff M, Gerardy-Schahn R, Najmabadi H, Ropers HH, Kuss AW. ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet. 2011 Sep 9; 89(3): 407-14.
3) Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y,Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2011 Jul 15; 89(1): 176-82.
4) Pak CH, Garshasbi M (*shared first author), Kahrizi K, Apponi LH, Gross Ch, Leung SW, Kelly SM, Huang B, Tzschach A, Behjati F, Falah M, Ghasemi Firouzabadi S, Noto SJ, Stahley SN, Williams KR, Feng Y, Sanyal S, Bassell GJ, Ropers HH, Najmabadi H, Corbett AH, Moberg KH, Kuss AW. Mutations in the conserved RNA-binding protein ZC3H14/Nab2 lead to neuronal impairment in Drosophila and humans. Proc Natl Acad Sci U S A (PNAS). 2011 Jul 26; 108(30):12390-5.
5) Garshasbi M, Kahrizi K, Hosseini M, Nouri Vahid L, Falah M, Hemmati S, Hu H, Tzschach A, Ropers HH, Najmabadi H, Kuss AW. A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. Am J Med Genet A. 2011 Aug; 155A(8):1976-80
6) Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet. 2008 May; 82(5):1158-64.
7) Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Ruschendorf F, Nurnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly, Hum Genet2006 Feb; 118(6): 708-15.
8) Garshasbi M, Oberkanins C, Law HY, Neishabury M, Kariminejad R, Najmabadi H. alpha-globin gene deletion and point mutation analysis among Iranian patients with microcytic hypochromic anemia: Haematologica/journal of hematology Vol 88(10): October 2003.
9) Ropers F, Derivery E, Hu H, Garshasbi M, Karbasiyan M, Herold M, Nürnberg G, Ullmann R, Gautreau A, Sperling K, Varon R, Rajab A. Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Hum Mol Genet. 2011 Jul 1; 20(13): 2585-90.
10) Kahrizi K, Hu CH, Garshasbi M, Abedini SS, Ghadami S, Kariminejad R, Ullmann R, Chen W, Ropers HH, Kuss AW, Najmabadi H, Tzschach A. Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Eur J Hum Genet. 2010 Aug 11.
11) Kuss AW, Garshasbi M (shared first author), Kahrizi K, Tzschach A, Abbasi Moheb L, Puettmann L, Ropers HH, Najmabadi H, Autosomal recessive mental retardation: homozygosity mapping identifies 30 novel single linkage intervals and several mutation hotspots, Hum Genet. 2011 Feb; 129(2): 141-8.
12) Dadgar S, Hagens O, Dadgar SR, Haghighi EN, Schimpf S, Wissinger B, Garshasbi M* (*corresponding author), Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy. Exp Eye Res. 2006 Sep; 83(3): 702-6.
13) Najmabadi H, Motazacker MM*, Garshasbi M* (*equally contributed), Kahrizi K, Tzschach A, Chen W, Behjati F, Hadavi V, Nieh SE, Abedini SS, Vazifehmand R, Firouzabadi SG, Jamali P, Falah M, Seifati SM, Gruters A, Lenzner S, Jensen LR, Ruschendorf F, Kuss AW, Ropers HH.Homozygosity mapping in consanguineous families reveals extreme heterogeneity of nonsyndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genet. 2006 Nov 21.
14) Türkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah AJ, Mischung C, Kuss A, Humphrey N, Mundlos S, Robinson PN. CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet. 2009 May; 5(5):e1000487.
15) Moheb LA, Tzschach A, Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH, Kuss AW. Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. Eur J Hum Genet. 2008 Feb; 16(2):270-3.
16) Khodayari N, Garshasbi M, Fadai F, Rahimi A, Hafizi L, Ebrahimi A, Najmabadi H, Ohadi M.Association of the dopamine transporter gene (DAT1) core promoter polymorphism -67T variant with schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2004 Aug 15; 129(1): 10-2.
17) Motazacker MM, Rost BR, Hucho T, Garshasbi M, Kahrizi K, Ullmann R, Abedini SS, Nieh SE, Amini SH, Goswami C, Tzschach A, Jensen LR, Schmitz D, Ropers HH, Najmabadi H, Kuss AW. A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet. 2007 Oct; 81(4):792-8.
18) Tzschach A, Bozorgmehr B, Hadavi V, Kahrizi K, Garshasbi M, Motazacker MM, Ropers HH, Kuss AW, Najmabadi H. Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients. Br J Dermatol. 2008 Jun 28.
19) Seifert W, Holder-Espinasse M, Kühnisch J, Kahrizi K, Tzschach A, Garshasbi M, Najmabadi H, Kuss AW, Kress W, Laureys G, Loeys B, Brilstra E, Mancini G, Dollfus H, Dahan K, Apse K, Hennies HC, Horn D. Expanded Mutational Spectrum in Cohen Syndrome, Tissue Expression, and Transcript Variants of COH1. Hum Mutat. 2009 Feb; 30(2).
20) Kahrizi K, Najmabadi N, Kariminejad R, Jamali P, Malekpour M, Garshasbi M, Ropers HH, Kuss AW, Tzschach A. An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4. Eur J Hum Genet. 2009 Jan; 17(1):125-8.
21) Trimborn M, Ghani Kakhki M, Walther D, Dopatka M, Dutrannoy V, Nowak J, Zabel C, Klose J, Esquitino V, Garshasbi M, Kuss A, Ropers H.H, Mueller S, Gavvovidis I, Schindler D, Sperling K, Neitzel H. Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function. PLoS One. 2010 Feb 16;5(2):e9242.
22) Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales Ph, Ropers HH, Latos-Bielenska A, Kuss AW. Cranioectodermal dysplasia (Sensenbrenner Syndrome) is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet. 2010 Jun 11;86(6):949-56.
23) Darvish H, Esmaeeli-Nieh S, Monajemi GB, Mohseni M, Ghasemi-Firouzabadi S, Abedini SS, Bahman I, Jamali P, Azimi S, Mojahedi F, Dehghan A, Shafeghati Y, Jankhah A, Falah M, Soltani Banavandi MJ, Ghani-Kakhi M, Garshasbi M, Rakhshani F, Naghavi A, Tzschach A, Neitzel H, Ropers HH, Kuss AW, Behjati F, Kahrizi K, Najmabadi H. A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. J Med Genet. 2010 Dec; 47(12): 823-8.
24) Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB,Tzschach A, Garshasbi M, Franke K, Meitinger T, Strom TM, Hempel M, Cohen syndrome diagnosis using whole genome arrays. J Med Genet. 2011 Feb;48(2):136-40. Epub 2010 Oct 4.
25) Timmermann B, Kerick M, Röhr Ch, Fischer A, Barmeyer Ch, Seemann P, König J, Lappe M, Kuss AW, Garshasbi M, Bertram L, Trappe K, Werber M, Herrmann BG, Zatloukal K, Lehrach H, Schweiger MR, Specific genetic profiles of MSI and MSS colorectal cancers identified by whole exome 454 deep sequencing and bioinformatics analysis. PLoS One. 2010 Dec 22;5(12).
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