共 7 条
[1]
Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio
[J].
Bodian, Dale L.
;
Solomon, Benjamin D.
;
Khromykh, Alina
;
Thach, Dzung C.
;
Iyer, Ramaswamy K.
;
Link, Kathleen
;
Baker, Robin L.
;
Baveja, Rajiv
;
Vockley, Joseph G.
;
Niederhuber, John E.
.
MOLECULAR GENETICS & GENOMIC MEDICINE,
2014, 2 (06)
:530-538

Bodian, Dale L.
论文数: 0 引用数: 0
h-index: 0
机构:
Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA

Solomon, Benjamin D.
论文数: 0 引用数: 0
h-index: 0
机构:
Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA

Khromykh, Alina
论文数: 0 引用数: 0
h-index: 0
机构:
Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA

Thach, Dzung C.
论文数: 0 引用数: 0
h-index: 0
机构:
Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA

Iyer, Ramaswamy K.
论文数: 0 引用数: 0
h-index: 0
机构:
Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA

Link, Kathleen
论文数: 0 引用数: 0
h-index: 0
机构:
Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA
Inova Childrens Hosp, Dept Pediat Endocrinol, Falls Church, VA USA Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA

Baker, Robin L.
论文数: 0 引用数: 0
h-index: 0
机构:
Inova Childrens Hosp, Fairfax Neonatal Associates PC, Falls Church, VA USA Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA

Baveja, Rajiv
论文数: 0 引用数: 0
h-index: 0
机构:
Inova Childrens Hosp, Fairfax Neonatal Associates PC, Falls Church, VA USA Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA

Vockley, Joseph G.
论文数: 0 引用数: 0
h-index: 0
机构:
Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA

Niederhuber, John E.
论文数: 0 引用数: 0
h-index: 0
机构:
Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA Inova Hlth Syst, Inova Translat Med Inst, Falls Church, VA 22042 USA
[2]
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
[3]
Fountain MD, GENET MED
[4]
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
[J].
Rauch, Anita
;
Wieczorek, Dagmar
;
Graf, Elisabeth
;
Wieland, Thomas
;
Endele, Sabine
;
Schwarzmayr, Thomas
;
Albrecht, Beate
;
Bartholdi, Deborah
;
Beygo, Jasmin
;
Di Donato, Nataliya
;
Dufke, Andreas
;
Cremer, Kirsten
;
Hempel, Maja
;
Horn, Denise
;
Hoyer, Juliane
;
Joset, Pascal
;
Ropke, Albrecht
;
Moog, Ute
;
Riess, Angelika
;
Thiel, Christian T.
;
Tzschach, Andreas
;
Wiesener, Antje
;
Wohlleber, Eva
;
Zweier, Christiane
;
Ekici, Arif B.
;
Zink, Alexander M.
;
Rump, Andreas
;
Meisinger, Christa
;
Grallert, Harald
;
Sticht, Heinrich
;
Schenck, Annette
;
Engels, Hartmut
;
Rappold, Gudrun
;
Schrock, Evelin
;
Wieacker, Peter
;
Riess, Olaf
;
Meitinger, Thomas
;
Reis, Andre
;
Strom, Tim M.
.
LANCET,
2012, 380 (9854)
:1674-1682

论文数: 引用数:
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机构:

Wieczorek, Dagmar
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Klinikum Essen, Inst Human Genet, Essen, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Graf, Elisabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Wieland, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Endele, Sabine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Schwarzmayr, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Albrecht, Beate
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Klinikum Essen, Inst Human Genet, Essen, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Bartholdi, Deborah
论文数: 0 引用数: 0
h-index: 0
机构: Univ Zurich, Inst Med Genet, Zurich, Switzerland

Beygo, Jasmin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Klinikum Essen, Inst Human Genet, Essen, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

论文数: 引用数:
h-index:
机构:

Dufke, Andreas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Inst Human Genet, Tubingen, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Cremer, Kirsten
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Klinikum Essen, Inst Human Genet, Essen, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Hempel, Maja
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Inst Human Genet, Munich, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Horn, Denise
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Berlin, Charite, Inst Med Genet, Berlin, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Hoyer, Juliane
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Joset, Pascal
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zurich, Inst Med Genet, Zurich, Switzerland Univ Zurich, Inst Med Genet, Zurich, Switzerland

Ropke, Albrecht
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munster, Inst Human Genet, D-4400 Munster, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Moog, Ute
论文数: 0 引用数: 0
h-index: 0
机构:
Heidelberg Univ, Inst Human Genet, Heidelberg, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Riess, Angelika
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Inst Human Genet, Tubingen, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Thiel, Christian T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Tzschach, Andreas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Inst Human Genet, Tubingen, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Wiesener, Antje
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Wohlleber, Eva
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, Bonn, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Zweier, Christiane
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Ekici, Arif B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Zink, Alexander M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, Bonn, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

论文数: 引用数:
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机构:

Meisinger, Christa
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Zentrum Munchen, Inst Epidemiol 2, D-85764 Neuherberg, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Grallert, Harald
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Zentrum Munchen, Res Unit Mol Epidemiol, D-85764 Neuherberg, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Sticht, Heinrich
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Erlangen Nurnberg, Inst Biochem, D-91054 Erlangen, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Schenck, Annette
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,Donders Inst Brain Cogn, NL-6525 ED Nijmegen, Netherlands Univ Zurich, Inst Med Genet, Zurich, Switzerland

Engels, Hartmut
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Human Genet, Bonn, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Rappold, Gudrun
论文数: 0 引用数: 0
h-index: 0
机构:
Heidelberg Univ, Inst Human Genet, Heidelberg, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Schrock, Evelin
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Dresden, Inst Clin Genet, D-01062 Dresden, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Wieacker, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munster, Inst Human Genet, D-4400 Munster, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Riess, Olaf
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany
Univ Tubingen, Inst Human Genet, Tubingen, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Meitinger, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany
Tech Univ Munich, Inst Human Genet, Munich, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland

Reis, Andre
论文数: 0 引用数: 0
h-index: 0
机构: Univ Zurich, Inst Med Genet, Zurich, Switzerland

Strom, Tim M.
论文数: 0 引用数: 0
h-index: 0
机构:
Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany
Tech Univ Munich, Inst Human Genet, Munich, Germany Univ Zurich, Inst Med Genet, Zurich, Switzerland
[5]
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
[J].
Schaaf, Christian P.
;
Gonzalez-Garay, Manuel L.
;
Xia, Fan
;
Potocki, Lorraine
;
Gripp, Karen W.
;
Zhang, Baili
;
Peters, Brock A.
;
McElwain, Mark A.
;
Drmanac, Radoje
;
Beaudet, Arthur L.
;
Caskey, C. Thomas
;
Yang, Yaping
.
NATURE GENETICS,
2013, 45 (11)
:1405-+

Schaaf, Christian P.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Gonzalez-Garay, Manuel L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas Hlth Sci Ctr Houston, Brown Fdn Inst Mol Med Prevent Human Dis, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Xia, Fan
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Potocki, Lorraine
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Gripp, Karen W.
论文数: 0 引用数: 0
h-index: 0
机构:
Alfred I duPont Hosp Children, Div Med Genet, Wilmington, DC USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Zhang, Baili
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Peters, Brock A.
论文数: 0 引用数: 0
h-index: 0
机构:
Complete Genom Inc, Mountain View, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

McElwain, Mark A.
论文数: 0 引用数: 0
h-index: 0
机构:
Complete Genom Inc, Mountain View, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Drmanac, Radoje
论文数: 0 引用数: 0
h-index: 0
机构:
Complete Genom Inc, Mountain View, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Beaudet, Arthur L.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Caskey, C. Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Yang, Yaping
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[6]
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
[J].
Wright, Caroline F.
;
Fitzgerald, Tomas W.
;
Jones, Wendy D.
;
Clayton, Stephen
;
McRae, Jeremy F.
;
van Kogelenberg, Margriet
;
King, Daniel A.
;
Ambridge, Kirsty
;
Barrett, Daniel M.
;
Bayzetinova, Tanya
;
Bevan, A. Paul
;
Bragin, Eugene
;
Chatzimichali, Eleni A.
;
Gribble, Susan
;
Jones, Philip
;
Krishnappa, Netravathi
;
Mason, Laura E.
;
Miller, Ray
;
Morley, Katherine I.
;
Parthiban, Vijaya
;
Prigmore, Elena
;
Rajan, Diana
;
Sifrim, Alejandro
;
Swaminathan, G. Jawahar
;
Tivey, Adrian R.
;
Middleton, Anna
;
Parker, Michael
;
Carter, Nigel P.
;
Barrett, Jeffrey C.
;
Hurles, Matthew E.
;
FitzPatrick, David R.
;
Firth, Helen V.
.
LANCET,
2015, 385 (9975)
:1305-1314

Wright, Caroline F.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Fitzgerald, Tomas W.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Jones, Wendy D.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Clayton, Stephen
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

McRae, Jeremy F.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

van Kogelenberg, Margriet
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

King, Daniel A.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Ambridge, Kirsty
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Barrett, Daniel M.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Bayzetinova, Tanya
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Bevan, A. Paul
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Bragin, Eugene
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Chatzimichali, Eleni A.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Gribble, Susan
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Jones, Philip
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Krishnappa, Netravathi
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Mason, Laura E.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Miller, Ray
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Morley, Katherine I.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England
Kings Coll London, Inst Psychiat, London, England
Univ Melbourne, Melbourne Sch Populat & Global Hlth, Melbourne, Vic, Australia Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Parthiban, Vijaya
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Prigmore, Elena
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Rajan, Diana
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Sifrim, Alejandro
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Swaminathan, G. Jawahar
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Tivey, Adrian R.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Middleton, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Parker, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Nuffield Dept Populat Hlth, Ethox Ctr, Oxford, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Carter, Nigel P.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Barrett, Jeffrey C.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Hurles, Matthew E.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

FitzPatrick, David R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Edinburgh, MRC, Human Genet Unit, MRC IGMM,WGH, Edinburgh, Midlothian, Scotland Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

Firth, Helen V.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England
Cambridge Univ Hosp Fdn Trust, Addenbrookes Hosp, Cambridge, England Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England
[7]
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
[J].
Yang, Yaping
;
Muzny, Donna M.
;
Reid, Jeffrey G.
;
Bainbridge, Matthew N.
;
Willis, Alecia
;
Ward, Patricia A.
;
Braxton, Alicia
;
Beuten, Joke
;
Xia, Fan
;
Niu, Zhiyv
;
Hardison, Matthew
;
Person, Richard
;
Bekheirnia, Mir Reza
;
Leduc, Magalie S.
;
Kirby, Amelia
;
Peter Pham
;
Scull, Jennifer
;
Wang, Min
;
Ding, Yan
;
Plon, Sharon E.
;
Lupski, James R.
;
Beaudet, Arthur L.
;
Gibbs, Richard A.
;
Eng, Christine M.
.
NEW ENGLAND JOURNAL OF MEDICINE,
2013, 369 (16)
:1502-1511

Yang, Yaping
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Muzny, Donna M.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Reid, Jeffrey G.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Bainbridge, Matthew N.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Willis, Alecia
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Ward, Patricia A.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Braxton, Alicia
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Beuten, Joke
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Xia, Fan
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Niu, Zhiyv
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Hardison, Matthew
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Person, Richard
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Bekheirnia, Mir Reza
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Leduc, Magalie S.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Kirby, Amelia
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Peter Pham
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Scull, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Wang, Min
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Ding, Yan
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Plon, Sharon E.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Lupski, James R.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Beaudet, Arthur L.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Gibbs, Richard A.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Eng, Christine M.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA