A
Annapurna Poduri
Researcher at Boston Children's Hospital
Publications - 219
Citations - 12080
Annapurna Poduri is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Epilepsy & Medicine. The author has an hindex of 46, co-authored 192 publications receiving 9353 citations. Previous affiliations of Annapurna Poduri include Great Ormond Street Hospital & University College London.
Papers
More filters
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
Somatic Mutation, Genomic Variation, and Neurological Disease
Annapurna Poduri,Gilad D. Evrony,Gilad D. Evrony,Xuyu Cai,Xuyu Cai,Christopher A. Walsh,Christopher A. Walsh +6 more
TL;DR: Findings suggest that somatic, perhaps brain-only, mosaic mutations may be important for other neurodevelopmental diseases, however, finding the mutations and the affected cells may require special study designs and technology.
Journal ArticleDOI
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain.
Gilad D. Evrony,Xuyu Cai,Xuyu Cai,Xuyu Cai,Eunjung Lee,Eunjung Lee,L. Benjamin Hills,L. Benjamin Hills,Princess C. Elhosary,Hillel S. Lehmann,Hillel S. Lehmann,J.J. Parker,J.J. Parker,Kutay Deniz Atabay,Kutay Deniz Atabay,Edward C. Gilmore,Annapurna Poduri,Annapurna Poduri,Peter J. Park,Peter J. Park,Peter J. Park,Christopher A. Walsh +21 more
TL;DR: A method to amplify genomes of single neurons from human brains allows systematic assessment of genomic diversity in the human brain and describes the mosaicism of a somatic AKT3 mutation identified in a child with hemimegalencephaly.
Journal ArticleDOI
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
Jinkuk Kim,Chunguang Hu,Christelle Moufawad El Achkar,Lauren E. Black,Julie Douville,Austin Larson,Mary K. Pendergast,Sara F. Goldkind,Eunjung Lee,Eunjung Lee,Ashley Kuniholm,Aubrie Soucy,Jai Vaze,Nandkishore R. Belur,Kristina Fredriksen,Iva Stojkovska,Alla V. Tsytsykova,Myriam Armant,Renata L. DiDonato,Jaejoon Choi,Laura Cornelissen,Luis M. Pereira,Erika F. Augustine,Casie A. Genetti,Kira A. Dies,Brenda Barton,Brenda Barton,Lucinda Williams,Lucinda Williams,Benjamin D. Goodlett,Bobbie L. Riley,Amy Pasternak,Emily Berry,Kelly A. Pflock,Stephen Chu,Chantal Reed,Kimberly Tyndall,Pankaj B. Agrawal,Alan H. Beggs,P. Ellen Grant,David K. Urion,Richard O. Snyder,Susan E. Waisbren,Annapurna Poduri,Peter J. Park,Al Patterson,Alessandra Biffi,Joseph R. Mazzulli,Olaf Bodamer,Olaf Bodamer,Charles B. Berde,Timothy W. Yu,Timothy W. Yu +52 more
TL;DR: This study describes how molecular diagnosis of a rare, fatal neurodegenerative condition led to the rational design, testing, and manufacture of milasen, a splice-modulating antisense oligonucleotide drug tailored to a particular patient.
Journal ArticleDOI
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
Timothy W. Yu,Maria H. Chahrour,Michael E. Coulter,Sarn Jiralerspong,Kazuko Okamura-Ikeda,Bulent Ataman,Klaus Schmitz-Abe,David A. Harmin,Mazhar Adli,Athar N. Malik,Alissa M. D'Gama,Elaine T. Lim,Stephen Sanders,Ganesh H. Mochida,Jennifer N. Partlow,Christine M. Sunu,Jillian M. Felie,Jacqueline Rodriguez,Ramzi Nasir,Janice Ware,Robert M. Joseph,R. Sean Hill,Benjamin Y. Kwan,Muna Al-Saffar,Muna Al-Saffar,Nahit Motavalli Mukaddes,Asif Hashmi,Soher Balkhy,Generoso G. Gascon,Generoso G. Gascon,Generoso G. Gascon,Fuki M. Hisama,Elaine LeClair,Annapurna Poduri,Ozgur Oner,Samira Al-Saad,S. A. Al-Awadi,Laila Bastaki,Tawfeg Ben-Omran,Tawfeg Ben-Omran,Ahmad S. Teebi,Ahmad S. Teebi,Lihadh Al-Gazali,Valsamma Eapen,Christine Stevens,Leonard Rappaport,Stacey Gabriel,Kyriacos Markianos,Matthew W. State,Michael E. Greenberg,Hisaaki Taniguchi,Nancy Braverman,Eric M. Morrow,Christopher A. Walsh +53 more
TL;DR: The utility of whole-exome sequencing for identifying specific genetic conditions not clinically suspected and the importance of partial loss of gene function in ASDs are shown.