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Masoud Garshasbi

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Iran

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Publications

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E Papari; Hans-Hilger Ropers; Seyedeh Sedigheh Abedini; I Bahman; M Bastami; Farkhondeh Behjati; A Farhadi; Masoud Garshasbi; M Hosseini; Kimia Kahrizi; L Abbasi Moheb; M Mohseni; Hossein Najmabadi
Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations.
Lia Abbasi-Moheb; Seyedeh Sedigheh Abedini; Sebahattin Cirak; Kirsten Cremer; Sahar Esmaeeli-Nieh; Masoud Garshasbi; Melanie Gonsior; Kimia Kahrizi; Sara Mertel; Mohammad Mahdi Motazacker; Hossein Najmabadi; Leyla Nouri-Vahid; H Hilger Ropers; Stephan J Sigrist; Andreas Tzschach; Robert Weißmann; Dagmar Wieczorek; Andreas W Kuss
Mutations in NSUN2 cause autosomal-recessive intellectual disability.
Seth Kelly; Andreas W Kuss; Anita H Corbett; Masoud Garshasbi; Changhui Pak; Kenneth H Moberg
New kid on the ID block: neural functions of the Nab2/ZC3H14 class of Cys₃His tandem zinc-finger polyadenosine RNA binding proteins.

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All Publications

2013: E Papari; Hans-Hilger Ropers; Seyedeh Sedigheh Abedini; I Bahman; M Bastami; Farkhondeh Behjati; A Farhadi; Masoud Garshasbi; M Hosseini; Kimia Kahrizi; L Abbasi Moheb; M Mohseni; Hossein Najmabadi
Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations.
Clinical genetics 2013;83(5):488-90.
2012: Lia Abbasi-Moheb; Seyedeh Sedigheh Abedini; Sebahattin Cirak; Kirsten Cremer; Sahar Esmaeeli-Nieh; Masoud Garshasbi; Melanie Gonsior; Kimia Kahrizi; Sara Mertel; Mohammad Mahdi Motazacker; Hossein Najmabadi; Leyla Nouri-Vahid; H Hilger Ropers; Stephan J Sigrist; Andreas Tzschach; Robert Weißmann; Dagmar Wieczorek; Andreas W Kuss
Mutations in NSUN2 cause autosomal-recessive intellectual disability.
American journal of human genetics 2012;90(5):847-55.
2012: Seth Kelly; Andreas W Kuss; Anita H Corbett; Masoud Garshasbi; Changhui Pak; Kenneth H Moberg
New kid on the ID block: neural functions of the Nab2/ZC3H14 class of Cys₃His tandem zinc-finger polyadenosine RNA binding proteins.
RNA biology 2012;9(5):555-62.
2011: Hao Hu; Tim B Hucho; Kimia Kahrizi; Ideh Bahman; Wei Chen; Katinka Eggers; Masoud Garshasbi; Rita Gerardy-Schahn; Masoumeh Hosseini; Mohammad Mahdi Motazacker; Martina Mühlenhoff; Hossein Najmabadi; H Hilger Ropers; Andreas Tzschach; Klaus Wrogemann; Andreas W Kuss
ST3GAL3 mutations impair the development of higher cognitive functions.
American journal of human genetics 2011;89(3):407-14.
2011: Masoud Garshasbi; Sahel Hemmati; Masoumeh Hosseini; Hao Hu; Kimia Kahrizi; Hossein Najmabadi; Leila Nouri Vahid; Hans-Hilger Ropers; Andreas Tzschach; Masoumeh Falah; Andreas W Kuss
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.
American journal of medical genetics. Part A 2011;155A(8):1976-80.
2011: Changhui Pak; Hans-Hilger Ropers; Subhabrata Sanyal; Sara N Stahley; Andreas Tzschach; Kathryn R Williams; Sara W Leung; Guanglu Liu; Kenneth H Moberg; Marzieh Mohseni; Hossein Najmabadi; John J Noto; Seyedeh Sedigheh Abedini; Luciano H Apponi; Gary J. Bassell; Farkhondeh Behjati; Sharon Burdick; Anita H Corbett; Yue Feng; Masoud Garshasbi; Christina Gross; Hao Hu; Brenda Huang; Lars R Jensen; Kimia Kahrizi; Seth M Kelly; Andreas W Kuss
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(30):12390-5.
2011: Muhammad Arshad Rafiq; Annapoorani Ramiah; Hans-Hilger Ropers; Andreas Tzschach; Reinhard Ullmann; John B Vincent; Rosanna Weksberg; Yong Xiang; Ghazanfar Ali; Muhammad Ansar; Muhammad Ayub; Masoud Garshasbi; Hao Hu; Gisele E Ishak; Kimia Kahrizi; Nadir Ali Kerio; Muzammil Ahmad Khan; Andreas W Kuss; Khalid Mahmood; Kelley W Moremen; Farooq Naeem; Abdul Noor; Lucia Püttmann; Hossein Najmabadi
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
American journal of human genetics 2011;89(1):176-82.
2011: Fabienne Ropers; Karl Sperling; Reinhard Ullmann; Raymonda Varon; Emmanuel Derivery; Masoud Garshasbi; Alexis Gautreau; Martin Herold; Hao Hu; Mohsen Karbasiyan; Gudrun Nürnberg; Anna Rajab
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
Human molecular genetics 2011;20(13):2585-90.
2011: Andreas W Kuss; Masoud Garshasbi; Kimia Kahrizi; Andreas Tzschach; Farkhondeh Behjati; Hossein Darvish; Lia Abbasi-Moheb; Lucia Püttmann; Agnes Zecha; Robert Weissmann; Hao Hu; Marzieh Mohseni; Seyedeh Sedigheh Abedini; Anna Rajab; Christoph Hertzberg; Dagmar Wieczorek; Reinhard Ullmann; Saghar Ghasemi-Firouzabadi; Susan Banihashemi; Sanaz Arzhangi; Valeh Hadavi; Gholamreza Bahrami-Monajemi; Mahboubeh Kasiri; masoom falah; Pooneh Nikuei; Atefeh Dehghan; Masoumeh Sobhani; Payman Jamali; Hans-Hilger Ropers; Hossein Najmabadi
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
Human genetics 2011;129(2):141-8.
2011: Nuria Rivera-Brugués; Beate Albrecht; Dagmar Wieczorek; Heinrich Schmidt; Thomas Keller; Ina Göhring; Arif B Ekici; Andreas Tzschach; Masoud Garshasbi; Kathlen Franke; Norman Klopp; H-Erich Wichmann; Thomas Meitinger; Tim M Strom; Maja Hempel
Cohen syndrome diagnosis using whole genome arrays.
Journal of medical genetics 2011;48(2):136-40.
2011: Kimia Kahrizi; Cougar Hao Hu; Masoud Garshasbi; Seyedeh Sedigheh Abedini; Shirin Ghadami; Roxana Kariminejad; Reinhard Ullmann; Wei Chen; H-Hilger Ropers; Andreas W Kuss; Hossein Najmabadi; Andreas Tzschach
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
European journal of human genetics : EJHG 2011;19(1):115-7.
2010: H Darvish; S Esmaeeli-Nieh; G B Monajemi; M Mohseni; S Ghasemi-Firouzabadi; Seyedeh Sedigheh Abedini; I Bahman; P Jamali; S Azimi; F Mojahedi; A Dehghan; Y Shafeghati; A Jankhah; masoom falah; M J Soltani Banavandi; M Ghani-Kakhi; Masoud Garshasbi; F Rakhshani; A Naghavi; Andreas Tzschach; H Neitzel; Hans-Hilger Ropers; Andreas W Kuss; Farkhondeh Behjati; Kimia Kahrizi; Hossein Najmabadi
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.
Journal of medical genetics 2010;47(12):823-8.
2010: Joanna Walczak-Sztulpa; Jonathan Eggenschwiler; Daniel Osborn; Desmond A Brown; francesco emma; Claus Klingenberg; Raoul C Hennekam; Giuliano Torre; Masoud Garshasbi; Andreas Tzschach; Malgorzata Szczepanska; Marian Krawczynski; Jacek Zachwieja; Danuta Zwolinska; Philip L Beales; Hans-Hilger Ropers; Anna Latos-Bielenska; Andreas W Kuss
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
American journal of human genetics 2010;86(6):949-56.
2010: Bernd Timmermann; Martin Kerick; Christina Roehr; Axel Fischer; Melanie Isau; Stefan T Boerno; Andrea Wunderlich; Christian Barmeyer; Petra Seemann; Jana Koenig; Michael Lappe; Andreas W Kuss; Masoud Garshasbi; Lars Bertram; Kathrin Trappe; Martin Werber; Bernhard G Herrmann; Kurt Zatloukal; Hans Lehrach; Michal R Schweiger
Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis.
PloS one 2010;5(12):e15661.
2010: Marc Trimborn; Mahdi Ghani; Diego J Walther; Monika Dopatka; Véronique Dutrannoy; Andreas Busche; Franziska Meyer; Stefanie Nowak; Jean Nowak; Zabel Claus; Joachim Klose; Veronica Esquitino; Masoud Garshasbi; Andreas W Kuss; Hans-Hilger Ropers; Susanne Mueller; Charlotte Poehlmann; Ioannis Gavvovidis; Detlev Schindler; Karl Sperling; Heidemarie Neitzel
Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function.
PloS one 2010;5(2):e9242.
2009: Seval Türkmen; Gao Guo; Masoud Garshasbi; Katrin Hoffmann; Amjad J Alshalah; Claudia Mischung; Andreas Kuss; Nicholas Humphrey; Stefan Mundlos; Peter Robinson
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.
PLoS genetics 2009;5(5):e1000487.
2009: Wenke Seifert; Muriel Holder-Espinasse; Jirko Kühnisch; Kimia Kahrizi; Andreas Tzschach; Masoud Garshasbi; Hossein Najmabadi; Andreas Walter Kuss; Wolfram Kress; Geneviève Laureys; Bart Loeys; Eva Brilstra; Grazia M S Mancini; Hélène Dollfus; Karin Dahan; Kira Apse; Hans Christian Hennies; Denise Horn
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
Human mutation 2009;30(2):E404-20.
2008: Masoud Garshasbi; Valeh Hadavi; Haleh Habibi; Kimia Kahrizi; Roxana Kariminejad; Farkhondeh Behjati; Andreas Tzschach; Hossein Najmabadi; Hans-Hilger Ropers; Andreas W Kuss
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.
American journal of human genetics 2008;82(5):1158-64.
2008: Lia Abbasi Moheb; Andreas Tzschach; Masoud Garshasbi; Kimia Kahrizi; Hossein Darvish; Yaser Heshmati; Ali Reza Pouya; Hossein Najmabadi; Hans-Hilger Ropers; Andreas W Kuss
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.
European journal of human genetics : EJHG 2008;16(2):270-3.
2007: Mohammad Mahdi Motazacker; Benjamin Rainer Rost; Tim B Hucho; Masoud Garshasbi; Kimia Kahrizi; Reinhard Ullmann; Seyedeh Sedigheh Abedini; Sahar Esmaeeli Nieh; Saeid Hosseini Amini; Chandan Goswami; Andreas Tzschach; Lars Riff Jensen; Dietmar Schmitz; Hans-Hilger Ropers; Hossein Najmabadi; Andreas W Kuss
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
American journal of human genetics 2007;81(4):792-8.
2007: Hossein Najmabadi; Mohammad Mahdi Motazacker; Masoud Garshasbi; Kimia Kahrizi; Andreas Tzschach; Wei Chen; Farkhondeh Behjati; Valeh Hadavi; Sahar Esmaeeli Nieh; Seyedeh Sedigheh Abedini; Reza Vazifehmand; Saghar Ghasemi Firouzabadi; Payman Jamali; masoom falah; Seyed Morteza Seifati; Annette Grüters; Steffen Lenzner; Lars Riff Jensen; Franz Rüschendorf; Andreas W Kuss; Hans-Hilger Ropers
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Human genetics 2007;121(1):43-8.
2006: Sharareh Dadgar; Olivier Hagens; Seyed Razi Dadgar; Ehsan Nobakht Haghighi; Simone Schimpf; Bernd Wissinger; Masoud Garshasbi
Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy.
Experimental eye research 2006;83(3):702-6.
2006: Masoud Garshasbi; Mohammad Mahdi Motazacker; Kimia Kahrizi; Farkhondeh Behjati; Seyedeh Sedigheh Abedini; Sahar Esmaeeli Nieh; Saghar Ghasemi Firouzabadi; Christian Becker; Franz Rüschendorf; Peter Nürnberg; Andreas Tzschach; Reza Vazifehmand; Fikret Erdogan; Reinhard Ullmann; Steffen Lenzner; Andreas W Kuss; Hans-Hilger Ropers; Hossein Najmabadi
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
Human genetics 2006;118(6):708-15.
2004: N Khodayari; Masoud Garshasbi; Farbod Fadai; A Rahimi; L Hafizi; Ahmad Ebrahimi; Hossein Najmabadi; Mina Ohadi
Association of the dopamine transporter gene (DAT1) core promoter polymorphism -67T variant with schizophrenia.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;129B(1):10-2.
2003: Masoud Garshasbi; Christian Oberkanins; Hai-Yang Law; Maryam Neishabury; Roxana Kariminejad; Hossein Najmabadi
alpha-globin gene deletion and point mutation analysis among in Iranian patients with microcytic hypochromic anemia.
Haematologica 2003;88(10):1196-7.