S
Seyedeh Sedigheh Abedini
Publications - 39
Citations - 2052
Seyedeh Sedigheh Abedini is an academic researcher. The author has contributed to research in topics: Disease gene identification & Gene. The author has an hindex of 14, co-authored 37 publications receiving 1789 citations.
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Deep sequencing reveals 50 novel genes for recessive cognitive disorders
Hossein Najmabadi,Hao Hu,Masoud Garshasbi,Tomasz Zemojtel,Seyedeh Sedigheh Abedini,Wei Chen,Masoumeh Hosseini,Farkhondeh Behjati,Stefan A. Haas,Payman Jamali,Agnes Zecha,Marzieh Mohseni,Lucia Püttmann,Leyla Nouri Vahid,C Jensen,Lia Abbasi Moheb,M Bienek,Farzaneh Larti,Ines Mueller,Robert Weissmann,Hossein Darvish,Klaus Wrogemann,Klaus Wrogemann,Valeh Hadavi,Bettina Lipkowitz,Sahar Esmaeeli-Nieh,Dagmar Wieczorek,Roxana Kariminejad,Saghar Ghasemi Firouzabadi,Monika Cohen,Zohreh Fattahi,Imma Rost,Faezeh Mojahedi,Christoph Hertzberg,Atefeh Dehghan,Anna Rajab,Mohammad Javad Soltani Banavandi,Julia Hoffer,Masoumeh Falah,Luciana Musante,Vera M. Kalscheuer,Reinhard Ullmann,Andreas W. Kuss,Andreas Tzschach,Kimia Kahrizi,Hans-Hilger Ropers +45 more
TL;DR: This study, the largest published so far, has revealed additional mutations in 23 genes previously implicated in intellectual disability or related neurological disorders, as well as single, probably disease-causing variants in 50 novel candidate genes.
Journal ArticleDOI
Mutations in NSUN2 cause autosomal-recessive intellectual disability
Lia Abbasi-Moheb,Sara Mertel,Melanie Gonsior,Leyla Nouri-Vahid,Kimia Kahrizi,Sebahattin Cirak,Dagmar Wieczorek,M. Mahdi Motazacker,Sahar Esmaeeli-Nieh,Kirsten Cremer,Robert Weißmann,Andreas Tzschach,Masoud Garshasbi,Seyedeh Sedigheh Abedini,Hossein Najmabadi,Hans-Hilger Ropers,Stephan J. Sigrist,Stephan J. Sigrist,Andreas W. Kuss +18 more
TL;DR: The observations from the Drosophila model point toward an evolutionarily conserved role of RNA methylation in normal cognitive development, suggesting that mutations in this gene might even induce a syndromic form of ID.
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A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
M. Mahdi Motazacker,Benjamin R. Rost,Tim 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 +15 more
TL;DR: This finding provides the first proof that GLU(K6) is indispensable for higher brain functions in humans, and future studies of this and other ionotropic kainate receptors will shed more light on the pathophysiology of mental retardation.
Journal ArticleDOI
Genetics of intellectual disability in consanguineous families
Hao Hu,Hao Hu,Kimia Kahrizi,Luciana Musante,Zohreh Fattahi,Ralf Herwig,Masoumeh Hosseini,Cornelia Oppitz,Seyedeh Sedigheh Abedini,Vanessa Suckow,Farzaneh Larti,Maryam Beheshtian,Bettina Lipkowitz,Tara Akhtarkhavari,Sepideh Mehvari,Sabine Otto,Marzieh Mohseni,Sanaz Arzhangi,Payman Jamali,Faezeh Mojahedi,Maryam Taghdiri,Elaheh Papari,Mohammad Javad Soltani Banavandi,Saeide Akbari,Seyed Hassan Tonekaboni,Hossein Dehghani,Mohammad Reza Ebrahimpour,Ingrid Bader,Behzad Davarnia,Monika Cohen,Hossein Khodaei,Beate Albrecht,Sarah Azimi,Birgit Zirn,Milad Bastami,Dagmar Wieczorek,Gholamreza Bahrami,Krystyna Keleman,Krystyna Keleman,Leila Nouri Vahid,Andreas Tzschach,Andreas Tzschach,Jutta Gärtner,Gabriele Gillessen-Kaesbach,Jamileh Rezazadeh Varaghchi,Bernd Timmermann,Fatemeh Pourfatemi,Aria Jankhah,Wei Chen,Pooneh Nikuei,Vera M. Kalscheuer,Morteza Oladnabi,Thomas F. Wienker,Hans-Hilger Ropers,Hossein Najmabadi +54 more
TL;DR: This study, the largest of its kind published to date, illustrates that high-throughput DNA sequencing in consanguineous families is a superior strategy for elucidating the thousands of hitherto unknown gene defects underlying AR-ID, and it sheds light on their prevalence.
Journal ArticleDOI
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Hossein Najmabadi,M. 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,Masoumeh Falah,Seyed Morteza Seifati,Annette Grüters,Steffen Lenzner,Lars Riff Jensen,Franz Rüschendorf,Andreas W. Kuss,Hans-Hilger Ropers +20 more
TL;DR: Homozygosity mapping in 78 consanguineous Iranian families with nonsyndromic autosomal recessive mental retardation has enabled us to determine the chromosomal localization of at least 8 novel gene loci for this condition.