共 8 条
[1]
Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia
[J].
Fogel, Brent L.
;
Lee, Hane
;
Deignan, Joshua L.
;
Strom, Samuel P.
;
Kantarci, Sibel
;
Wang, Xizhe
;
Quintero-Rivera, Fabiola
;
Vilain, Eric
;
Grody, Wayne W.
;
Perlman, Susan
;
Geschwind, Daniel H.
;
Nelson, Stanley F.
.
JAMA NEUROLOGY,
2014, 71 (10)
:1237-1246

Fogel, Brent L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Lee, Hane
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Lab Med, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, UCLA Clin Genom Ctr, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Deignan, Joshua L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Lab Med, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, UCLA Clin Genom Ctr, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Strom, Samuel P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Lab Med, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, UCLA Clin Genom Ctr, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Kantarci, Sibel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Lab Med, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, UCLA Clin Genom Ctr, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Wang, Xizhe
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Quintero-Rivera, Fabiola
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Lab Med, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, UCLA Clin Genom Ctr, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Vilain, Eric
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, UCLA Clin Genom Ctr, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Grody, Wayne W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Lab Med, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, UCLA Clin Genom Ctr, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Perlman, Susan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Geschwind, Daniel H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA

Nelson, Stanley F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Lab Med, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, UCLA Clin Genom Ctr, Los Angeles, CA 90095 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA
[2]
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
[J].
Green, Robert C.
;
Berg, Jonathan S.
;
Grody, Wayne W.
;
Kalia, Sarah S.
;
Korf, Bruce R.
;
Martin, Christa L.
;
McGuire, Amy L.
;
Nussbaum, Robert L.
;
O'Daniel, Julianne M.
;
Ormond, Kelly E.
;
Rehm, Heidi L.
;
Watson, Michael S.
;
Williams, Marc S.
;
Biesecker, Leslie G.
.
GENETICS IN MEDICINE,
2013, 15 (07)
:565-574

Green, Robert C.
论文数: 0 引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USA
Partners Healthcare Ctr Personalized Genet Med, Boston, MA USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Berg, Jonathan S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ N Carolina, Sch Med, Dept Genet, Chapel Hill, NC USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Grody, Wayne W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Sch Med, Div Med Genet, Dept Human Genet, Los Angeles, CA USA
Univ Calif Los Angeles, Sch Med, Dept Pathol & Lab Med, Div Mol Pathol, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Sch Med, Dept Pediat, Div Pediat Genet, Los Angeles, CA 90024 USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Kalia, Sarah S.
论文数: 0 引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Korf, Bruce R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Martin, Christa L.
论文数: 0 引用数: 0
h-index: 0
机构:
Geisinger Hlth Syst, Autism & Dev Med Inst, Danville, PA USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

McGuire, Amy L.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Ctr Med Eth & Hlth Policy, Houston, TX 77030 USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Nussbaum, Robert L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Dept Med, Div Genom Med, San Francisco, CA USA
Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

O'Daniel, Julianne M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ N Carolina, Sch Med, Dept Genet, Chapel Hill, NC USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Ormond, Kelly E.
论文数: 0 引用数: 0
h-index: 0
机构:
Stanford Univ, Dept Genet, Stanford, CA 94305 USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Rehm, Heidi L.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Boston, MA USA
Partners Healthcare Ctr Personalized Genet Med, Boston, MA USA
Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Watson, Michael S.
论文数: 0 引用数: 0
h-index: 0
机构:
Amer Coll Med Genet & Genom, Bethesda, MD USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Williams, Marc S.
论文数: 0 引用数: 0
h-index: 0
机构:
Geisinger Hlth Syst, Genom Med Inst, Danville, PA USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA

Biesecker, Leslie G.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD 20892 USA Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA
[3]
The usefulness of whole-exome sequencing in routine clinical practice
[J].
Iglesias, Alejandro
;
Anyane-Yeboa, Kwame
;
Wynn, Julia
;
Wilson, Ashley
;
Cho, Megan Truitt
;
Guzman, Edwin
;
Sisson, Rebecca
;
Egan, Claire
;
Chung, Wendy K.
.
GENETICS IN MEDICINE,
2014, 16 (12)
:922-931

Iglesias, Alejandro
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Pediat, Med Ctr, Div Clin Genet, New York, NY 10027 USA Columbia Univ, Dept Pediat, Med Ctr, Div Clin Genet, New York, NY 10027 USA

Anyane-Yeboa, Kwame
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Pediat, Med Ctr, Div Clin Genet, New York, NY 10027 USA Columbia Univ, Dept Pediat, Med Ctr, Div Clin Genet, New York, NY 10027 USA

Wynn, Julia
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Pediat, Med Ctr, Div Mol Genet, New York, NY 10027 USA Columbia Univ, Dept Pediat, Med Ctr, Div Clin Genet, New York, NY 10027 USA

Wilson, Ashley
论文数: 0 引用数: 0
h-index: 0
机构:
New York Presbyterian Hosp, Dept Pediat, Div Clin Genet, New York, NY USA Columbia Univ, Dept Pediat, Med Ctr, Div Clin Genet, New York, NY 10027 USA

Cho, Megan Truitt
论文数: 0 引用数: 0
h-index: 0
机构:
New York Presbyterian Hosp, Dept Pediat, Div Clin Genet, New York, NY USA Columbia Univ, Dept Pediat, Med Ctr, Div Clin Genet, New York, NY 10027 USA

Guzman, Edwin
论文数: 0 引用数: 0
h-index: 0
机构:
New York Presbyterian Hosp, Dept Pediat, Div Clin Genet, New York, NY USA Columbia Univ, Dept Pediat, Med Ctr, Div Clin Genet, New York, NY 10027 USA

Sisson, Rebecca
论文数: 0 引用数: 0
h-index: 0
机构:
New York Presbyterian Hosp, Dept Pediat, Div Clin Genet, New York, NY USA Columbia Univ, Dept Pediat, Med Ctr, Div Clin Genet, New York, NY 10027 USA

Egan, Claire
论文数: 0 引用数: 0
h-index: 0
机构:
New York Presbyterian Hosp, Dept Pediat, Div Clin Genet, New York, NY USA Columbia Univ, Dept Pediat, Med Ctr, Div Clin Genet, New York, NY 10027 USA

Chung, Wendy K.
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Dept Pediat, Med Ctr, Div Mol Genet, New York, NY 10027 USA
Columbia Univ, Dept Med, Med Ctr, New York, NY 10027 USA Columbia Univ, Dept Pediat, Med Ctr, Div Clin Genet, New York, NY 10027 USA
[4]
ClinVar: public archive of relationships among sequence variation and human phenotype
[J].
Landrum, Melissa J.
;
Lee, Jennifer M.
;
Riley, George R.
;
Jang, Wonhee
;
Rubinstein, Wendy S.
;
Church, Deanna M.
;
Maglott, Donna R.
.
NUCLEIC ACIDS RESEARCH,
2014, 42 (D1)
:D980-D985

Landrum, Melissa J.
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Lee, Jennifer M.
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Riley, George R.
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Jang, Wonhee
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Rubinstein, Wendy S.
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Church, Deanna M.
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA

Maglott, Donna R.
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA
[5]
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood
[J].
Ohba, Chihiro
;
Osaka, Hitoshi
;
Iai, Mizue
;
Yamashita, Sumimasa
;
Suzuki, Yume
;
Aida, Noriko
;
Shimozawa, Nobuyuki
;
Takamura, Ayumi
;
Doi, Hiroshi
;
Tomita-Katsumoto, Atsuko
;
Nishiyama, Kiyomi
;
Tsurusaki, Yoshinori
;
Nakashima, Mitsuko
;
Miyake, Noriko
;
Eto, Yoshikatsu
;
Tanaka, Fumiaki
;
Matsumoto, Naomichi
;
Saitsu, Hirotomo
.
NEUROGENETICS,
2013, 14 (3-4)
:225-232

Ohba, Chihiro
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan
Yokohama City Univ, Dept Clin Neurol & Stroke Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan

Osaka, Hitoshi
论文数: 0 引用数: 0
h-index: 0
机构:
Kanagawa Childrens Med Ctr, Div Neurol, Clin Res Inst, Yokohama, Kanagawa 2320066, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan

Iai, Mizue
论文数: 0 引用数: 0
h-index: 0
机构:
Kanagawa Childrens Med Ctr, Div Neurol, Clin Res Inst, Yokohama, Kanagawa 2320066, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan

Yamashita, Sumimasa
论文数: 0 引用数: 0
h-index: 0
机构:
Kanagawa Childrens Med Ctr, Div Neurol, Clin Res Inst, Yokohama, Kanagawa 2320066, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan

Suzuki, Yume
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Dept Clin Neurol & Stroke Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan

Aida, Noriko
论文数: 0 引用数: 0
h-index: 0
机构:
Kanagawa Childrens Med Ctr, Div Radiol, Clin Res Inst, Yokohama, Kanagawa 2320066, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan

Shimozawa, Nobuyuki
论文数: 0 引用数: 0
h-index: 0
机构:
Gifu Univ, Div Genom Res, Life Sci Res Ctr, Gifu 5011193, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan

Takamura, Ayumi
论文数: 0 引用数: 0
h-index: 0
机构:
Tokyo Jikei Univ, Dept Genet & Genome Sci, Sch Med, Tokyo 1058461, Japan
Inst Neurol Disorders, Adv Clin Res Ctr, Kawasaki, Kanagawa 2150026, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan

Doi, Hiroshi
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Dept Clin Neurol & Stroke Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan

Tomita-Katsumoto, Atsuko
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Dept Clin Neurol & Stroke Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan

Nishiyama, Kiyomi
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan

Tsurusaki, Yoshinori
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan

Nakashima, Mitsuko
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan

Miyake, Noriko
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan

Eto, Yoshikatsu
论文数: 0 引用数: 0
h-index: 0
机构:
Tokyo Jikei Univ, Dept Genet & Genome Sci, Sch Med, Tokyo 1058461, Japan
Inst Neurol Disorders, Adv Clin Res Ctr, Kawasaki, Kanagawa 2150026, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan

Tanaka, Fumiaki
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Dept Clin Neurol & Stroke Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan

Matsumoto, Naomichi
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan

论文数: 引用数:
h-index:
机构:
[6]
ACMG clinical laboratory standards for next-generation sequencing
[J].
Rehm, Heidi L.
;
Bale, Sherri J.
;
Bayrak-Toydemir, Pinar
;
Berg, Jonathan S.
;
Brown, Kerry K.
;
Deignan, Joshua L.
;
Friez, Michael J.
;
Funke, Birgit H.
;
Hegde, Madhuri R.
;
Lyon, Elaine
.
GENETICS IN MEDICINE,
2013, 15 (09)
:733-747

Rehm, Heidi L.
论文数: 0 引用数: 0
h-index: 0
机构:
Partners Healthcare Ctr Personalized Genet Med, Lab Mol Med, Boston, MA USA
Massachusetts Gen Hosp, Brigham & Womens Hosp, Dept Pathol, Boston, MA 02114 USA
Harvard Univ, Sch Med, Boston, MA USA Partners Healthcare Ctr Personalized Genet Med, Lab Mol Med, Boston, MA USA

Bale, Sherri J.
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD USA Partners Healthcare Ctr Personalized Genet Med, Lab Mol Med, Boston, MA USA

Bayrak-Toydemir, Pinar
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Partners Healthcare Ctr Personalized Genet Med, Lab Mol Med, Boston, MA USA

Berg, Jonathan S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ N Carolina, Dept Genet, Chapel Hill, NC USA Partners Healthcare Ctr Personalized Genet Med, Lab Mol Med, Boston, MA USA

Brown, Kerry K.
论文数: 0 引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Dept Med, Boston, MA 02115 USA Partners Healthcare Ctr Personalized Genet Med, Lab Mol Med, Boston, MA USA

Deignan, Joshua L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA Partners Healthcare Ctr Personalized Genet Med, Lab Mol Med, Boston, MA USA

Friez, Michael J.
论文数: 0 引用数: 0
h-index: 0
机构:
Greenwood Genet Ctr, Mol Diagnost Lab, Greenwood, SC 29646 USA Partners Healthcare Ctr Personalized Genet Med, Lab Mol Med, Boston, MA USA

Funke, Birgit H.
论文数: 0 引用数: 0
h-index: 0
机构:
Partners Healthcare Ctr Personalized Genet Med, Lab Mol Med, Boston, MA USA
Massachusetts Gen Hosp, Brigham & Womens Hosp, Dept Pathol, Boston, MA 02114 USA
Harvard Univ, Sch Med, Boston, MA USA Partners Healthcare Ctr Personalized Genet Med, Lab Mol Med, Boston, MA USA

Hegde, Madhuri R.
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Dept Human Genet, Emory Genet Lab, Atlanta, GA 30322 USA Partners Healthcare Ctr Personalized Genet Med, Lab Mol Med, Boston, MA USA

Lyon, Elaine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Partners Healthcare Ctr Personalized Genet Med, Lab Mol Med, Boston, MA USA
[7]
Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia
[J].
Sawyer, Sarah L.
;
Schwartzentruber, Jeremy
;
Beaulieu, Chandree L.
;
Dyment, David
;
Smith, Amanda
;
Chardon, Jodi Warman
;
Yoon, Grace
;
Rouleau, Guy A.
;
Suchowersky, Oksana
;
Siu, Victoria
;
Murphy, Lisa
;
Hegele, Robert A.
;
Marshall, Christian R.
;
Bulman, Dennis E.
;
Majewski, Jacek
;
Tarnopolsky, Mark
;
Boycott, Kym M.
.
HUMAN MUTATION,
2014, 35 (01)
:45-49

Sawyer, Sarah L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

论文数: 引用数:
h-index:
机构:

Beaulieu, Chandree L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

Dyment, David
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

Smith, Amanda
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

Chardon, Jodi Warman
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

Yoon, Grace
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Hosp Sick Children, Div Neurol, Toronto, ON M5G 1X8, Canada
Univ Toronto, Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

Rouleau, Guy A.
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

Suchowersky, Oksana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alberta, Dept Med Neurol, Edmonton, AB, Canada
Univ Alberta, Dept Med Genet, Edmonton, AB, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

Siu, Victoria
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Ontario, Dept Pediat, Div Med Genet, London, ON N6A 3K7, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

Murphy, Lisa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Ontario, Dept Pediat, Div Med Genet, London, ON N6A 3K7, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

Hegele, Robert A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Ontario, Robarts Res Inst, London, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

Marshall, Christian R.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON M5G 1X8, Canada
Univ Toronto, McLaughlin Ctr, Toronto, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

Bulman, Dennis E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

Majewski, Jacek
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Dept Human Genet, Montreal, PQ, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

Tarnopolsky, Mark
论文数: 0 引用数: 0
h-index: 0
机构:
McMaster Childrens Hosp, Dept Pediat, Hamilton, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

Boycott, Kym M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada
[8]
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