共 42 条
[1]
FDA Approves Eteplirsen for Duchenne Muscular Dystrophy: The Next Chapter in the Eteplirsen Saga
[J].
Aartsma-Rus, Annemieke
;
Krieg, Arthur M.
.
NUCLEIC ACID THERAPEUTICS,
2017, 27 (01)
:1-+

Aartsma-Rus, Annemieke
论文数: 0 引用数: 0
h-index: 0
机构:
Leiden Univ, Med Ctr, Postzone S4-P,Albinusdreef 2, NL-2333 ZA Leiden, Netherlands Leiden Univ, Med Ctr, Postzone S4-P,Albinusdreef 2, NL-2333 ZA Leiden, Netherlands

Krieg, Arthur M.
论文数: 0 引用数: 0
h-index: 0
机构:
Checkmate Pharmaceut, Cambridge, MA USA Leiden Univ, Med Ctr, Postzone S4-P,Albinusdreef 2, NL-2333 ZA Leiden, Netherlands
[2]
De novo mutations in epileptic encephalopathies
[J].
Allen, Andrew S.
;
Berkovic, Samuel F.
;
Cossette, Patrick
;
Delanty, Norman
;
Dlugos, Dennis
;
Eichler, Evan E.
;
Epstein, Michael P.
;
Glauser, Tracy
;
Goldstein, David B.
;
Han, Yujun
;
Heinzen, Erin L.
;
Hitomi, Yuki
;
Howell, Katherine B.
;
Johnson, Michael R.
;
Kuzniecky, Ruben
;
Lowenstein, Daniel H.
;
Lu, Yi-Fan
;
Madou, Maura R. Z.
;
Marson, Anthony G.
;
Mefford, Heather C.
;
Nieh, Sahar Esmaeeli
;
O'Brien, Terence J.
;
Ottman, Ruth
;
Petrovski, Slave
;
Poduri, Annapurna
;
Ruzzo, Elizabeth K.
;
Scheffer, Ingrid E.
;
Sherr, Elliott H.
;
Yuskaitis, Christopher J.
;
Abou-Khalil, Bassel
;
Alldredge, Brian K.
;
Bautista, Jocelyn F.
;
Berkovic, Samuel F.
;
Boro, Alex
;
Cascino, Gregory D.
;
Consalvo, Damian
;
Crumrine, Patricia
;
Devinsky, Orrin
;
Dlugos, Dennis
;
Epstein, Michael P.
;
Fiol, Miguel
;
Fountain, Nathan B.
;
French, Jacqueline
;
Friedman, Daniel
;
Geller, Eric B.
;
Glauser, Tracy
;
Glynn, Simon
;
Haut, Sheryl R.
;
Hayward, Jean
;
Helmers, Sandra L.
.
NATURE,
2013, 501 (7466)
:217-+

Allen, Andrew S.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA
Duke Univ, Med Ctr, Ctr Human Genome Variat, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Berkovic, Samuel F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne Austin Hlth, Dept Med, Epilepsy Res Ctr, Heidelberg, Vic 3084, Australia Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Cossette, Patrick
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, CHUM Hop Notre Dame Montre, Montreal, PQ H2L 4M1, Canada
CHUM Res Ctr, Montreal, PQ H2L 4M1, Canada Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Delanty, Norman
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Coll Surg, Dublin 9, Ireland
Beaumont Hosp, Dept Neurol, Dublin 9, Ireland Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Dlugos, Dennis
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Dept Neurol & Pediat, Philadelphia, PA 19104 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Eichler, Evan E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Sch Med, Dept Gen Sci, Seattle, WA 98195 USA
Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Epstein, Michael P.
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Glauser, Tracy
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Neurol, Cincinnati, OH 45229 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Goldstein, David B.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Han, Yujun
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Heinzen, Erin L.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Hitomi, Yuki
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Howell, Katherine B.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Childrens Hosp Melbourne, Dept Neurol, Parkville, Vic 3052, Australia Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Johnson, Michael R.
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Clin Translat Div Brain Sci, London SW7 2AZ, England Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Kuzniecky, Ruben
论文数: 0 引用数: 0
h-index: 0
机构:
NYU, Sch Med, Dept Neurol, Comprehens Epilepsy Ctr, New York, NY 10016 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Lowenstein, Daniel H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Lu, Yi-Fan
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Madou, Maura R. Z.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Marson, Anthony G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Liverpool, Ctr Clin Sci, Dept Mol & Clin Pharmacol, Liverpool L9 7LJ, Merseyside, England Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Mefford, Heather C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98115 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Nieh, Sahar Esmaeeli
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, San Francisco, CA 94143 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

O'Brien, Terence J.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Melbourne Hosp, Dept Med, Parkville, Vic 3146, Australia
Royal Melbourne Hosp, Dept Neurol, Parkville, Vic 3146, Australia Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Ottman, Ruth
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Epidemiol, New York, NY 10027 USA
Columbia Univ, Dept Neurol, New York, NY 10027 USA
Columbia Univ, GH Sergievsky Ctr, New York, NY 10027 USA
New York State Psychiat Inst & Hosp, Div Epidemiol, New York, NY 10032 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Petrovski, Slave
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne Austin Hlth, Dept Med, Epilepsy Res Ctr, Heidelberg, Vic 3084, Australia
Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA
Royal Melbourne Hosp, Dept Med, Parkville, Vic 3146, Australia
Royal Melbourne Hosp, Dept Neurol, Parkville, Vic 3146, Australia Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Poduri, Annapurna
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Dept Neurol, Div Epilepsy & Clin Neurophysiol, Boston, MA 02115 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Ruzzo, Elizabeth K.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Scheffer, Ingrid E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne Austin Hlth, Dept Med, Epilepsy Res Ctr, Heidelberg, Vic 3084, Australia
Univ Melbourne, Florey Inst, Parkville, Vic 3052, Australia
Univ Melbourne, Dept Pediat, Royal Childrens Hosp, Parkville, Vic 3052, Australia Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Sherr, Elliott H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Pediat & Inst Human Genet, Dept Neurol, San Francisco, CA 94158 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Yuskaitis, Christopher J.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Abou-Khalil, Bassel
论文数: 0 引用数: 0
h-index: 0
机构:
Vanderbilt Univ, Med Ctr, Dept Neurol, Nashville, TN 37232 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Alldredge, Brian K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Sch Med, UCSF Sch Pharm, Dept Clin Pharm,Dept Neurol, San Francisco, CA 94143 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Bautista, Jocelyn F.
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin Neurol Inst, Cleveland Clin Lerner Coll Med & Epilepsy Ctr, Dept Neurol, Cleveland, OH 44195 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Berkovic, Samuel F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne Austin Hlth, Dept Med, Epilepsy Res Ctr, Heidelberg, Vic 3084, Australia Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Boro, Alex
论文数: 0 引用数: 0
h-index: 0
机构:
Albert Einstein Coll Med, Montefiore Med Ctr, Dept Neurol, Bronx, NY 10467 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Cascino, Gregory D.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Div Epilepsy, Rochester, MN 55905 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Consalvo, Damian
论文数: 0 引用数: 0
h-index: 0
机构:
Ramos Meji Hosp, Div Neurol, Epilepsy Ctr, RA-1221 Buenos Aires, DF, Argentina Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Crumrine, Patricia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Pittsburgh, UPMC, Med Epilepsy Program & EEG & Child Neurol, Childrens Hosp Pittsburgh,Sch Med, Pittsburgh, PA 15224 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Devinsky, Orrin
论文数: 0 引用数: 0
h-index: 0
机构:
NYU, Sch Med, St Barnabas Epilepsy Ctr, New York, NY 10016 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Dlugos, Dennis
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Penn, Perelman Sch Med, Childrens Hosp Philadelphia, Dept Neurol & Pediat, Philadelphia, PA 19104 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Epstein, Michael P.
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Fiol, Miguel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Minnesota, Sch Med, Epilepsy Care Ctr, Dept Neurol, Minneapolis, MN 55414 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Fountain, Nathan B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Virginia, FE Dreifuss Comprehens Epilepsy Program, Charlottesville, VA 22908 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

French, Jacqueline
论文数: 0 引用数: 0
h-index: 0
机构:
NYU, Sch Med, Dept Neurol, Comprehens Epilepsy Ctr, New York, NY 10016 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Friedman, Daniel
论文数: 0 引用数: 0
h-index: 0
机构:
NYU, Sch Med, Dept Neurol, Comprehens Epilepsy Ctr, New York, NY 10016 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Geller, Eric B.
论文数: 0 引用数: 0
h-index: 0
机构:
St Barnabas Hosp, Div Neurol, Livingston, NJ 07039 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Glauser, Tracy
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Neurol, Cincinnati, OH 45229 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Glynn, Simon
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan Hlth Syst, Dept Neurol, Comprehens Epilepsy Program, Ann Arbor, MI 48109 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Haut, Sheryl R.
论文数: 0 引用数: 0
h-index: 0
机构:
Montefiore Med Ctr, Comprehens Epilepsy Ctr, Bronx, NY 10467 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Hayward, Jean
论文数: 0 引用数: 0
h-index: 0
机构:
Kaiser Permanente Grp, Oakland, CA 94618 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA

Helmers, Sandra L.
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Atlanta, GA 30322 USA Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Duke Clin Res Inst, Durham, NC 27710 USA
[3]
Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures
[J].
Ben-Shalom, Roy
;
Keeshen, Caroline M.
;
Berrios, Kiara N.
;
An, Joon Y.
;
Sanders, Stephan J.
;
Bender, Kevin J.
.
BIOLOGICAL PSYCHIATRY,
2017, 82 (03)
:224-232

Ben-Shalom, Roy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Ctr Integrat Neurosci, Kavli Inst Fundamental Neurosci, Dept Neurol, San Francisco, CA 94158 USA
Lawrence Berkeley Natl Lab, Computat Res Div, Berkeley, CA USA Univ Calif San Francisco, Ctr Integrat Neurosci, Kavli Inst Fundamental Neurosci, Dept Neurol, San Francisco, CA 94158 USA

Keeshen, Caroline M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Ctr Integrat Neurosci, Kavli Inst Fundamental Neurosci, Dept Neurol, San Francisco, CA 94158 USA Univ Calif San Francisco, Ctr Integrat Neurosci, Kavli Inst Fundamental Neurosci, Dept Neurol, San Francisco, CA 94158 USA

Berrios, Kiara N.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Puerto Rico, Dept Chem, Rio Piedras Campus, San Juan, PR 00936 USA Univ Calif San Francisco, Ctr Integrat Neurosci, Kavli Inst Fundamental Neurosci, Dept Neurol, San Francisco, CA 94158 USA

An, Joon Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Dept Psychiat, San Francisco, CA 94158 USA
Univ Calif San Francisco, UCSF Weill Inst Neurosci, San Francisco, CA 94158 USA Univ Calif San Francisco, Ctr Integrat Neurosci, Kavli Inst Fundamental Neurosci, Dept Neurol, San Francisco, CA 94158 USA

Sanders, Stephan J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Dept Psychiat, San Francisco, CA 94158 USA
Univ Calif San Francisco, UCSF Weill Inst Neurosci, San Francisco, CA 94158 USA Univ Calif San Francisco, Ctr Integrat Neurosci, Kavli Inst Fundamental Neurosci, Dept Neurol, San Francisco, CA 94158 USA

Bender, Kevin J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Ctr Integrat Neurosci, Kavli Inst Fundamental Neurosci, Dept Neurol, San Francisco, CA 94158 USA
Univ Calif San Francisco, UCSF Weill Inst Neurosci, San Francisco, CA 94158 USA Univ Calif San Francisco, Ctr Integrat Neurosci, Kavli Inst Fundamental Neurosci, Dept Neurol, San Francisco, CA 94158 USA
[4]
Therapeutic Antisense Oligonucleotides Are Coming of Age
[J].
Bennett, C. Frank
.
ANNUAL REVIEW OF MEDICINE, VOL 70,
2019, 70
:307-321

Bennett, C. Frank
论文数: 0 引用数: 0
h-index: 0
机构:
Ionis Pharmaceut, Carlsbad, CA 92010 USA Ionis Pharmaceut, Carlsbad, CA 92010 USA
[5]
RNA Targeting Therapeutics: Molecular Mechanisms of Antisense Oligonucleotides as a Therapeutic Platform
[J].
Bennett, C. Frank
;
Swayze, Eric E.
.
ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY,
2010, 50
:259-293

Bennett, C. Frank
论文数: 0 引用数: 0
h-index: 0
机构:
Isis Pharmaceut Inc, Carlsbad, CA 92008 USA Isis Pharmaceut Inc, Carlsbad, CA 92008 USA

Swayze, Eric E.
论文数: 0 引用数: 0
h-index: 0
机构:
Isis Pharmaceut Inc, Carlsbad, CA 92008 USA Isis Pharmaceut Inc, Carlsbad, CA 92008 USA
[6]
Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy
[J].
Berecki, Geza
;
Howell, Katherine B.
;
Deerasooriya, Yadeesha H.
;
Cilio, Maria Roberta
;
Oliva, Megan K.
;
Kaplan, David
;
Scheffer, Ingrid E.
;
Berkovic, Samuel F.
;
Petrou, Steven
.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
2018, 115 (24)
:E5516-E5525

Berecki, Geza
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic 3052, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic 3052, Australia

Howell, Katherine B.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Childrens Hosp, Dept Neurol, Parkville, Vic 3052, Australia
Univ Melbourne, Dept Pediat, Parkville, Vic 3052, Australia
Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic 3052, Australia

Deerasooriya, Yadeesha H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Dept Mech Engn, Parkville, Vic 3052, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic 3052, Australia

Cilio, Maria Roberta
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, San Francisco Benioff Childrens Hosp, Dept Neurol, San Francisco, CA 94158 USA
Univ Calif San Francisco, San Francisco Benioff Childrens Hosp, Dept Pediat, San Francisco, CA 94158 USA Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic 3052, Australia

Oliva, Megan K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic 3052, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic 3052, Australia

Kaplan, David
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic 3052, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic 3052, Australia

Scheffer, Ingrid E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic 3052, Australia
Royal Childrens Hosp, Dept Neurol, Parkville, Vic 3052, Australia
Univ Melbourne, Dept Pediat, Parkville, Vic 3052, Australia
Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Heidelberg, Vic 3084, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic 3052, Australia

Berkovic, Samuel F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Dept Med, Heidelberg, Vic 3084, Australia Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic 3052, Australia

论文数: 引用数:
h-index:
机构:
[7]
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
[J].
Carvill, Gemma L.
;
Heavin, Sinead B.
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Yendle, Simone C.
;
McMahon, Jacinta M.
;
O'Roak, Brian J.
;
Cook, Joseph
;
Khan, Adiba
;
Dorschner, Michael O.
;
Weaver, Molly
;
Calvert, Sophie
;
Malone, Stephen
;
Wallace, Geoffrey
;
Stanley, Thorsten
;
Bye, Ann M. E.
;
Bleasel, Andrew
;
Howell, Katherine B.
;
Kivity, Sara
;
Mackay, Mark T.
;
Rodriguez-Casero, Victoria
;
Webster, Richard
;
Korczyn, Amos
;
Afawi, Zaid
;
Zelnick, Nathanel
;
Lerman-Sagie, Tally
;
Lev, Dorit
;
Moller, Rikke S.
;
Gill, Deepak
;
Andrade, Danielle M.
;
Freeman, Jeremy L.
;
Sadleir, Lynette G.
;
Shendure, Jay
;
Berkovic, Samuel F.
;
Scheffer, Ingrid E.
;
Mefford, Heather C.
.
NATURE GENETICS,
2013, 45 (07)
:825-U158

Carvill, Gemma L.
论文数: 0 引用数: 0
h-index: 0
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Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Heavin, Sinead B.
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Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Yendle, Simone C.
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Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

McMahon, Jacinta M.
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Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

O'Roak, Brian J.
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Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Cook, Joseph
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Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Khan, Adiba
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Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Dorschner, Michael O.
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Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA
Vet Affairs Puget Sound Hlth Care Syst, Seattle, WA USA Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Weaver, Molly
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Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA
Vet Affairs Puget Sound Hlth Care Syst, Seattle, WA USA Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Calvert, Sophie
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Royal Childrens Hosp, Neurosci Childrens Hlth Queensland, Brisbane, Qld, Australia
Univ Queensland, Mater Childrens Hosp, Neurosci Childrens Hlth Queensland, Brisbane, Qld 4101, Australia Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Malone, Stephen
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Royal Childrens Hosp, Neurosci Childrens Hlth Queensland, Brisbane, Qld, Australia
Univ Queensland, Mater Childrens Hosp, Neurosci Childrens Hlth Queensland, Brisbane, Qld 4101, Australia Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Wallace, Geoffrey
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Royal Childrens Hosp, Neurosci Childrens Hlth Queensland, Brisbane, Qld, Australia
Univ Queensland, Mater Childrens Hosp, Neurosci Childrens Hlth Queensland, Brisbane, Qld 4101, Australia Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Stanley, Thorsten
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Univ Otago, Sch Med & Hlth Sci, Dept Paediat, Wellington, New Zealand Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Bye, Ann M. E.
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Univ New S Wales, Dept Paediat Neurol, Sydney Childrens Hosp, Sydney, NSW, Australia Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Bleasel, Andrew
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Univ Sydney, Westmead Hosp, Dept Neurol, Sydney, NSW 2006, Australia Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Howell, Katherine B.
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Royal Childrens Hosp, Dept Neurol, Melbourne, Vic, Australia Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Kivity, Sara
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Schneider Childrens Med Ctr Israel, Epilepsy Unit, Petah Tiqwa, Israel Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Mackay, Mark T.
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Royal Childrens Hosp, Dept Neurol, Melbourne, Vic, Australia
Murdoch Childrens Res Inst, Melbourne, Vic, Australia
Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Rodriguez-Casero, Victoria
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Monash Med Ctr, Melbourne, Vic, Australia Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Webster, Richard
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Childrens Hosp Westmead, TY Nelson Dept Neurol, Sydney, NSW, Australia Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Korczyn, Amos
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Tel Aviv Univ, Dept Neurol, IL-69978 Tel Aviv, Israel Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Afawi, Zaid
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Tel Aviv Univ, Sch Med, IL-69978 Tel Aviv, Israel Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Zelnick, Nathanel
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Technion Israel Inst Technol, Fac Med, Carmel Med Ctr, Dept Pediat, Haifa, Israel Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Lerman-Sagie, Tally
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Wolfson Med Ctr, Metab Neurogenet Serv, Holon, Israel
Danish Epilepsy Ctr, Dianalund, Denmark Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Lev, Dorit
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Wolfson Med Ctr, Metab Neurogenet Serv, Holon, Israel Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Moller, Rikke S.
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Danish Epilepsy Ctr, Dianalund, Denmark Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Gill, Deepak
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Childrens Hosp Westmead, TY Nelson Dept Neurol, Sydney, NSW, Australia Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Andrade, Danielle M.
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Univ Toronto, Toronto Western Hosp, Dept Med, Div Neurol,Krembil Neurosci Program, Toronto, ON M5T 2S8, Canada Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Freeman, Jeremy L.
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Royal Childrens Hosp, Dept Neurol, Melbourne, Vic, Australia
Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Sadleir, Lynette G.
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Univ Otago, Sch Med & Hlth Sci, Dept Paediat, Wellington, New Zealand Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Shendure, Jay
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Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Berkovic, Samuel F.
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Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Scheffer, Ingrid E.
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Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Melbourne, Vic, Australia
Royal Childrens Hosp, Dept Neurol, Melbourne, Vic, Australia
Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia
Florey Inst, Melbourne, Vic, Australia Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

Mefford, Heather C.
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Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA
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