共 31 条
[1]
Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
[J].
Berg, Anne T.
;
Berkovic, Samuel F.
;
Brodie, Martin J.
;
Buchhalter, Jeffrey
;
Cross, J. Helen
;
Boas, Walter van Emde
;
Engel, Jerome
;
French, Jacqueline
;
Glauser, Tracy A.
;
Mathern, Gary W.
;
Moshe, Solomon L.
;
Nordli, Douglas
;
Plouin, Perrine
;
Scheffer, Ingrid E.
.
EPILEPSIA,
2010, 51 (04)
:676-685

Berg, Anne T.
论文数: 0 引用数: 0
h-index: 0
机构:
No Illinois Univ, Dept Biol, De Kalb, IL 60115 USA
NW Childrens Mem Hosp, Epilepsy Ctr, Dept Neurol, Chicago, IL USA No Illinois Univ, Dept Biol, De Kalb, IL 60115 USA

Berkovic, Samuel F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic, Australia No Illinois Univ, Dept Biol, De Kalb, IL 60115 USA

Brodie, Martin J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Glasgow, Western Infirm, Epilepsy Unit, Glasgow G11 6NT, Lanark, Scotland No Illinois Univ, Dept Biol, De Kalb, IL 60115 USA

Buchhalter, Jeffrey
论文数: 0 引用数: 0
h-index: 0
机构:
Phoenix Childrens Hosp, Dept Neurol, Phoenix, AZ USA No Illinois Univ, Dept Biol, De Kalb, IL 60115 USA

Cross, J. Helen
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, UCL Inst Child Hlth, Neurosci Unit, London WC1N 3JH, England
Natl Ctr Young People Epilepsy, Lingfield, England No Illinois Univ, Dept Biol, De Kalb, IL 60115 USA

Boas, Walter van Emde
论文数: 0 引用数: 0
h-index: 0
机构:
Epilepsy Clin Meer & Bosch, Dept EEG EMU, Heemstede, Netherlands
Stichting Epilepsie Instellingen Nederland, Hoofddorp, Netherlands No Illinois Univ, Dept Biol, De Kalb, IL 60115 USA

Engel, Jerome
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA 90024 USA No Illinois Univ, Dept Biol, De Kalb, IL 60115 USA

French, Jacqueline
论文数: 0 引用数: 0
h-index: 0
机构:
NYU, Dept Neurol, New York, NY 10016 USA No Illinois Univ, Dept Biol, De Kalb, IL 60115 USA

Glauser, Tracy A.
论文数: 0 引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp, Dept Neurol, Cincinnati, OH USA No Illinois Univ, Dept Biol, De Kalb, IL 60115 USA

Mathern, Gary W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Dept Neurosurg, Los Angeles, CA 90024 USA No Illinois Univ, Dept Biol, De Kalb, IL 60115 USA

Moshe, Solomon L.
论文数: 0 引用数: 0
h-index: 0
机构:
Albert Einstein Coll Med, Dept Neurol, Bronx, NY 10467 USA No Illinois Univ, Dept Biol, De Kalb, IL 60115 USA

Nordli, Douglas
论文数: 0 引用数: 0
h-index: 0
机构:
NW Childrens Mem Hosp, Epilepsy Ctr, Dept Neurol, Chicago, IL USA No Illinois Univ, Dept Biol, De Kalb, IL 60115 USA

Plouin, Perrine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Dept Neurol, Paris, France No Illinois Univ, Dept Biol, De Kalb, IL 60115 USA

Scheffer, Ingrid E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic, Australia No Illinois Univ, Dept Biol, De Kalb, IL 60115 USA
[2]
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
[J].
Claes, L
;
Del-Favero, J
;
Ceulemans, B
;
Lagae, L
;
Van Broeckhoven, C
;
De Jonghe, P
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2001, 68 (06)
:1327-1332

Claes, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Antwerp VIB, Dept Mol Genet, B-2020 Antwerp, Belgium

Del-Favero, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Antwerp VIB, Dept Mol Genet, B-2020 Antwerp, Belgium

论文数: 引用数:
h-index:
机构:

Lagae, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Antwerp VIB, Dept Mol Genet, B-2020 Antwerp, Belgium

Van Broeckhoven, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Antwerp VIB, Dept Mol Genet, B-2020 Antwerp, Belgium

De Jonghe, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Antwerp VIB, Dept Mol Genet, B-2020 Antwerp, Belgium
[3]
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
[J].
de Ligt, Joep
;
Willemsen, Marjolein H.
;
van Bon, Bregje W. M.
;
Kleefstra, Tjitske
;
Yntema, Helger G.
;
Kroes, Thessa
;
Vulto-van Silfhout, Anneke T.
;
Koolen, David A.
;
de Vries, Petra
;
Gilissen, Christian
;
del Rosario, Marisol
;
Hoischen, Alexander
;
Scheffer, Hans
;
de Vries, Bert B. A.
;
Brunner, Han G.
;
Veltman, Joris A.
;
Vissers, Lisenka E. L. M.
.
NEW ENGLAND JOURNAL OF MEDICINE,
2012, 367 (20)
:1921-1929

de Ligt, Joep
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands

Willemsen, Marjolein H.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands

van Bon, Bregje W. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands

Kleefstra, Tjitske
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands

Yntema, Helger G.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands

Kroes, Thessa
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands

Vulto-van Silfhout, Anneke T.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands

Koolen, David A.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands

de Vries, Petra
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands

Gilissen, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands

del Rosario, Marisol
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands

Hoischen, Alexander
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands

Scheffer, Hans
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands

de Vries, Bert B. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands

Brunner, Han G.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands

Veltman, Joris A.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands

Vissers, Lisenka E. L. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands
[4]
DeLorey TM, 1998, J NEUROSCI, V18, P8505
[5]
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia
[J].
Fox, JW
;
Lamperti, ED
;
Eksioglu, YZ
;
Hong, SE
;
Feng, YY
;
Graham, DA
;
Scheffer, IE
;
Dobyns, WB
;
Hirsch, BA
;
Radtke, RA
;
Berkovic, SF
;
Huttenlocher, PR
;
Walsh, CA
.
NEURON,
1998, 21 (06)
:1315-1325

Fox, JW
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Inst Med, Beth Israel Deaconess Med Ctr, Dept Neurol, Div Neurogenet, Boston, MA 02115 USA

Lamperti, ED
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Inst Med, Beth Israel Deaconess Med Ctr, Dept Neurol, Div Neurogenet, Boston, MA 02115 USA

Eksioglu, YZ
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Inst Med, Beth Israel Deaconess Med Ctr, Dept Neurol, Div Neurogenet, Boston, MA 02115 USA

Hong, SE
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Inst Med, Beth Israel Deaconess Med Ctr, Dept Neurol, Div Neurogenet, Boston, MA 02115 USA

Feng, YY
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Inst Med, Beth Israel Deaconess Med Ctr, Dept Neurol, Div Neurogenet, Boston, MA 02115 USA

Graham, DA
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Inst Med, Beth Israel Deaconess Med Ctr, Dept Neurol, Div Neurogenet, Boston, MA 02115 USA

Scheffer, IE
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Inst Med, Beth Israel Deaconess Med Ctr, Dept Neurol, Div Neurogenet, Boston, MA 02115 USA

Dobyns, WB
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Inst Med, Beth Israel Deaconess Med Ctr, Dept Neurol, Div Neurogenet, Boston, MA 02115 USA

Hirsch, BA
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Inst Med, Beth Israel Deaconess Med Ctr, Dept Neurol, Div Neurogenet, Boston, MA 02115 USA

Radtke, RA
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Inst Med, Beth Israel Deaconess Med Ctr, Dept Neurol, Div Neurogenet, Boston, MA 02115 USA

Berkovic, SF
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Inst Med, Beth Israel Deaconess Med Ctr, Dept Neurol, Div Neurogenet, Boston, MA 02115 USA

Huttenlocher, PR
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Inst Med, Beth Israel Deaconess Med Ctr, Dept Neurol, Div Neurogenet, Boston, MA 02115 USA

Walsh, CA
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Inst Med, Beth Israel Deaconess Med Ctr, Dept Neurol, Div Neurogenet, Boston, MA 02115 USA Harvard Inst Med, Beth Israel Deaconess Med Ctr, Dept Neurol, Div Neurogenet, Boston, MA 02115 USA
[6]
doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
[J].
Gleeson, JG
;
Allen, KM
;
Fox, JW
;
Lamperti, ED
;
Berkovic, S
;
Scheffer, I
;
Cooper, EC
;
Dobyns, WB
;
Minnerath, SR
;
Ross, ME
;
Walsh, CA
.
CELL,
1998, 92 (01)
:63-72

Gleeson, JG
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Beth Israel Deaconess Med Ctr, Dept Neurol,Div Neurogenet, Boston, MA 02115 USA

Allen, KM
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Beth Israel Deaconess Med Ctr, Dept Neurol,Div Neurogenet, Boston, MA 02115 USA

Fox, JW
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Beth Israel Deaconess Med Ctr, Dept Neurol,Div Neurogenet, Boston, MA 02115 USA

Lamperti, ED
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Beth Israel Deaconess Med Ctr, Dept Neurol,Div Neurogenet, Boston, MA 02115 USA

Berkovic, S
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Beth Israel Deaconess Med Ctr, Dept Neurol,Div Neurogenet, Boston, MA 02115 USA

Scheffer, I
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Beth Israel Deaconess Med Ctr, Dept Neurol,Div Neurogenet, Boston, MA 02115 USA

Cooper, EC
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Beth Israel Deaconess Med Ctr, Dept Neurol,Div Neurogenet, Boston, MA 02115 USA

Dobyns, WB
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Beth Israel Deaconess Med Ctr, Dept Neurol,Div Neurogenet, Boston, MA 02115 USA

Minnerath, SR
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Beth Israel Deaconess Med Ctr, Dept Neurol,Div Neurogenet, Boston, MA 02115 USA

Ross, ME
论文数: 0 引用数: 0
h-index: 0
机构: Harvard Univ, Sch Med, Beth Israel Deaconess Med Ctr, Dept Neurol,Div Neurogenet, Boston, MA 02115 USA

Walsh, CA
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Beth Israel Deaconess Med Ctr, Dept Neurol,Div Neurogenet, Boston, MA 02115 USA Harvard Univ, Sch Med, Beth Israel Deaconess Med Ctr, Dept Neurol,Div Neurogenet, Boston, MA 02115 USA
[7]
Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy
[J].
Heinzen, Erin L.
;
Depondt, Chantal
;
Cavalleri, Gianpiero L.
;
Ruzzo, Elizabeth K.
;
Walley, Nicole M.
;
Need, Anna C.
;
Ge, Dongliang
;
He, Min
;
Cirulli, Elizabeth T.
;
Zhao, Qian
;
Cronin, Kenneth D.
;
Gumbs, Curtis E.
;
Campbell, C. Ryan
;
Hong, Linda K.
;
Maia, Jessica M.
;
Shianna, Kevin V.
;
McCormack, Mark
;
Radtke, Rodney A.
;
O'Conner, Gerard D.
;
Mikati, Mohamad A.
;
Gallentine, William B.
;
Husain, Aatif M.
;
Sinha, Saurabh R.
;
Chinthapalli, Krishna
;
Puranam, Ram S.
;
McNamara, James O.
;
Ottman, Ruth
;
Sisodiya, Sanjay M.
;
Delanty, Norman
;
Goldstein, David B.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2012, 91 (02)
:293-302

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, Sch Med, Dept Med, Med Genet Sect, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Depondt, Chantal
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles, Hop Erasme, Dept Neurol, B-1070 Brussels, Belgium Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Cavalleri, Gianpiero L.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Coll Surgeons Ireland, Dublin 2, Ireland Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 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, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Walley, Nicole M.
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, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Need, Anna C.
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, Sch Med, Dept Med, Med Genet Sect, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Ge, Dongliang
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, Sch Med, Dept Med, Med Genet Sect, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

He, Min
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, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Cirulli, Elizabeth T.
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, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Zhao, Qian
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, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Cronin, Kenneth D.
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, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Gumbs, Curtis E.
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, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Campbell, C. Ryan
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, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Hong, Linda 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, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Maia, Jessica M.
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, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Shianna, Kevin V.
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, Sch Med, Dept Med, Med Genet Sect, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

McCormack, Mark
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Coll Surgeons Ireland, Dublin 2, Ireland Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Radtke, Rodney A.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Div Neurol, Dept Med, Durham, NC 27710 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

O'Conner, Gerard D.
论文数: 0 引用数: 0
h-index: 0
机构:
Beaumont Hosp, Div Neurol, Dublin 9, Ireland Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Mikati, Mohamad A.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Dept Pediat, Div Pediat Neurol, Durham, NC 27710 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Gallentine, William B.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Dept Pediat, Div Pediat Neurol, Durham, NC 27710 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Husain, Aatif M.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Div Neurol, Dept Med, Durham, NC 27710 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Sinha, Saurabh R.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Sch Med, Div Neurol, Dept Med, Durham, NC 27710 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Chinthapalli, Krishna
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, Dept Clin & Expt Epilepsy, London WC1N 3BG, England Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Puranam, Ram S.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Dept Neurobiol, Durham, NC 27710 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

McNamara, James O.
论文数: 0 引用数: 0
h-index: 0
机构:
Duke Univ, Dept Neurobiol, Durham, NC 27710 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Ottman, Ruth
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Sergievsky Ctr, New York, NY 10032 USA
Columbia Univ, Dept Neurol, New York, NY 10032 USA
Columbia Univ, Dept Epidemiol, New York, NY 10032 USA
New York State Psychiat Inst & Hosp, Div Epidemiol, New York, NY 10032 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Sisodiya, Sanjay M.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Inst Neurol, Dept Clin & Expt Epilepsy, London WC1N 3BG, England Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA

Delanty, Norman
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Coll Surgeons Ireland, Dublin 2, Ireland
Beaumont Hosp, Div Neurol, Dublin 9, Ireland Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 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, Dept Mol Genet & Microbiol, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA
[8]
Hitomi Y., 2013, ANN NEUROL
[9]
De Novo Gene Disruptions in Children on the Autistic Spectrum
[J].
Iossifov, Ivan
;
Ronemus, Michael
;
Levy, Dan
;
Wang, Zihua
;
Hakker, Inessa
;
Rosenbaum, Julie
;
Yamrom, Boris
;
Lee, Yoon-ha
;
Narzisi, Giuseppe
;
Leotta, Anthony
;
Kendall, Jude
;
Grabowska, Ewa
;
Ma, Beicong
;
Marks, Steven
;
Rodgers, Linda
;
Stepansky, Asya
;
Troge, Jennifer
;
Andrews, Peter
;
Bekritsky, Mitchell
;
Pradhan, Kith
;
Ghiban, Elena
;
Kramer, Melissa
;
Parla, Jennifer
;
Demeter, Ryan
;
Fulton, Lucinda L.
;
Fulton, Robert S.
;
Magrini, Vincent J.
;
Ye, Kenny
;
Darnell, Jennifer C.
;
Darnell, Robert B.
;
Mardis, Elaine R.
;
Wilson, Richard K.
;
Schatz, Michael C.
;
McCombie, W. Richard
;
Wigler, Michael
.
NEURON,
2012, 74 (02)
:285-299

Iossifov, Ivan
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Ronemus, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Levy, Dan
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Wang, Zihua
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Hakker, Inessa
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Rosenbaum, Julie
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Yamrom, Boris
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Lee, Yoon-ha
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Narzisi, Giuseppe
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Leotta, Anthony
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Kendall, Jude
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Grabowska, Ewa
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Ma, Beicong
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Marks, Steven
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Rodgers, Linda
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Stepansky, Asya
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Troge, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Andrews, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Bekritsky, Mitchell
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Pradhan, Kith
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Ghiban, Elena
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Kramer, Melissa
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Parla, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Demeter, Ryan
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Genome Inst, St Louis, MO 63108 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Fulton, Lucinda L.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Genome Inst, St Louis, MO 63108 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Fulton, Robert S.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Genome Inst, St Louis, MO 63108 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Magrini, Vincent J.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Genome Inst, St Louis, MO 63108 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Ye, Kenny
论文数: 0 引用数: 0
h-index: 0
机构:
Albert Einstein Coll Med, Dept Epidemiol & Populat Hlth, Bronx, NY 10461 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Darnell, Jennifer C.
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10065 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Darnell, Robert B.
论文数: 0 引用数: 0
h-index: 0
机构:
Rockefeller Univ, Mol Neurooncol Lab, New York, NY 10065 USA
Rockefeller Univ, Howard Hughes Med Inst, New York, NY 10065 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Mardis, Elaine R.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Genome Inst, St Louis, MO 63108 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Wilson, Richard K.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Genome Inst, St Louis, MO 63108 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Schatz, Michael C.
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

McCombie, W. Richard
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

Wigler, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA
[10]
Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
[J].
Kalscheuer, VM
;
Tao, J
;
Donnelly, A
;
Hollway, G
;
Schwinger, E
;
Kübart, S
;
Menzel, C
;
Hoeltzenbein, M
;
Tommerup, N
;
Eyre, H
;
Harbord, M
;
Haan, E
;
Sutherland, GR
;
Ropers, HH
;
Gécz, J
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2003, 72 (06)
:1401-1411

Kalscheuer, VM
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Tao, J
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Donnelly, A
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Hollway, G
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Schwinger, E
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Kübart, S
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Menzel, C
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Hoeltzenbein, M
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

论文数: 引用数:
h-index:
机构:

Eyre, H
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Harbord, M
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Haan, E
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Sutherland, GR
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机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Ropers, HH
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany

Gécz, J
论文数: 0 引用数: 0
h-index: 0
机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany