S
Sahar Esmaeeli Nieh
Researcher at University of California, San Francisco
Publications - 10
Citations - 1962
Sahar Esmaeeli Nieh is an academic researcher from University of California, San Francisco. The author has contributed to research in topics: Population & Disease gene identification. The author has an hindex of 10, co-authored 10 publications receiving 1744 citations. Previous affiliations of Sahar Esmaeeli Nieh include Max Planck Society & Charité.
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Journal ArticleDOI
De novo mutations in epileptic encephalopathies
Andrew S. Allen,Samuel F. Berkovic,Patrick Cossette,Norman Delanty,Dennis J. Dlugos,Evan E. Eichler,Michael P. Epstein,Tracy A. Glauser,David Goldstein,Yujun Han,Erin L. Heinzen,Yuki Hitomi,Katherine B. Howell,Marvin Johnson,Ruben Kuzniecky,Daniel H. Lowenstein,Yi-Fan Lu,Maura Madou,Anthony G Marson,Heather C Mefford,Sahar Esmaeeli Nieh,Terence J. O'Brien,Ruth Ottman,Slavé Petrovski,Annapurna Poduri,Elizabeth K. Ruzzo,Ingrid E. Scheffer,Elliott H. Sherr,Christopher J. Yuskaitis,Bassel Abou-Khalil,Brian K. Alldredge,Jocelyn F. Bautista,Alex Boro,Gregory D. Cascino,Damian Consalvo,Patricia K. Crumrine,Orrin Devinsky,Miguel E. Fiol,Nathan B. Fountain,Jacqueline A. French,Daniel Friedman,Eric B. Geller,Simon Glynn,Sheryl R. Haut,Jean Hayward,Sandra L. Helmers,Sucheta M. Joshi,Andres M. Kanner,Heidi E. Kirsch,Robert C. Knowlton,Eric H. Kossoff,Rachel Kuperman,Shannon M. McGuire,Paul V. Motika,Edward J. Novotny,Juliann M. Paolicchi,Juliann M. Paolicchi,Jack M. Parent,Jack M. Parent,Kristen Park,Renée A. Shellhaas,Jerry J. Shih,Rani K. Singh,Joseph I Sirven,Michael C. Smith,Joseph Sullivan,Liu Lin Thio,Anu Venkat,Eileen P.G. Vining,Gretchen Von Allmen,Judith L.Z. Weisenberg,Peter Widdess-Walsh,Melodie R. Winawer +72 more
TL;DR: In this paper, a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms and Lennox-Gastaut syndrome (n = 115) was performed.
Journal ArticleDOI
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.
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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.
Journal ArticleDOI
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly
Hossein Darvish,Sahar Esmaeeli Nieh,Gholamreza Bahrami Monajemi,Marzieh Mohseni,S. Ghasemi-Firouzabadi,Seyedeh Sedigheh Abedini,Ideh Bahman,Peyman Jamali,Somayeh Azimi,Faezeh Mojahedi,Atefeh Dehghan,Yousef Shafeghati,A. Jankhah,Masoumeh Falah,M J Soltani Banavandi,M. Ghani-Kakhi,Masoud Garshasbi,Fatemeh Rakhshani,Anoosh Naghavi,Andreas Tzschach,Heidemarie Neitzel,Hans-Hilger Ropers,Andreas W. Kuss,Farkhondeh Behjati,Kimia Kahrizi,Hossein Najmabadi +25 more
TL;DR: The results show that the molecular basis of microcephaly is heterogeneous; thus, the Iranian population may provide a unique source for the identification of further genes underlying this disorder.
Journal ArticleDOI
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
Sahar Esmaeeli Nieh,Maura Madou,Minhajuddin Sirajuddin,Minhajuddin Sirajuddin,Brieana Fregeau,Dianalee McKnight,Katrina W. Lexa,Jonathan B. Strober,Christine G. Spaeth,Barbara Hallinan,Nizar Smaoui,John Pappas,Thomas A. Burrow,Thomas A. Burrow,Marie T. McDonald,Mariam Latibashvili,Mariam Latibashvili,Esther Leshinsky-Silver,Dorit Lev,Luba Blumkin,Ronald D. Vale,A. J. Barkovich,Elliott H. Sherr +22 more
TL;DR: To determine the cause and course of a novel syndrome with progressive encephalopathy and brain atrophy in children, an international team of scientists and clinicians are using a novel approach called “big data” to solve the mystery of “why children’s brains are mummified”.