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- [1] Clinical whole-exome sequencing: are we there yet?GENETICS IN MEDICINE, 2014, 16 (09) : 717 - 719Atwal, Paldeep Singh论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USA Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USABrennan, Marie-Louise论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USA Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USACox, Rachel论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USA Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USANiaki, Michael论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USA Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USAPlatt, Julia论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USA Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USAHomeyer, Margaret论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USA Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USAKwan, Andrea论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USA Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USAParkin, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USA Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USASchelley, Susan论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USA Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USASlattery, Leah论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USA Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USAWilnai, Yael论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USA Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USABernstein, Jonathan Adam论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USA Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USAEnns, Gregory M.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USA Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USAHudgins, Louanne论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USA Stanford Univ, Med Ctr, Div Med Genet, Stanford, CA 94305 USA
- [2] Clinical implementation of whole-exome sequencing for cancer in clinical practiceCANCER SCIENCE, 2022, 113论文数: 引用数: h-index:机构:
- [3] Single center experience in clinical whole-exome sequencingMOLECULAR GENETICS AND METABOLISM, 2021, 132 : S142 - S142Gazzaz, Nour论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, CanadaHyunh, Stephanie论文数: 0 引用数: 0 h-index: 0机构: BC Childrens & Womens Hosp, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, CanadaMoller-Hansen, Ashley论文数: 0 引用数: 0 h-index: 0机构: BC Childrens & Womens Hosp, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, CanadaChalazan, Brandon论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, CanadaBoerkoel, Neal论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, CanadaChin, Hui-Lin论文数: 0 引用数: 0 h-index: 0机构: BC Childrens & Womens Hosp, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, Canada
- [4] The usefulness of whole-exome sequencing in routine clinical practiceGENETICS IN MEDICINE, 2014, 16 (12) : 922 - 931Iglesias, 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 USAAnyane-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 USAWynn, 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 USAWilson, 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 USACho, 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 USAGuzman, 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 USASisson, 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 USAEgan, 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 USAChung, 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
- [5] Clinical application of whole-exome sequencing across clinical indicationsGENETICS IN MEDICINE, 2016, 18 (07) : 696 - 704Retterer, Kyle论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USAJuusola, Jane论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USACho, Megan T.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USAVitazka, Patrik论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USAMillan, Francisca论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USAGibellini, Federica论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USAVertino-Bell, Annette论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USASmaoui, Nizar论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Takeda Pharmaceut Int Inc, Deerfield, IL USA GeneDx, Gaithersburg, MD 20877 USANeidich, Julie论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Pathway Genom Corp, San Diego, CA USA GeneDx, Gaithersburg, MD 20877 USAMonaghan, Kristin G.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USAMcKnight, Dianalee论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USABai, Renkui论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USASuchy, Sharon论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USAFriedman, Bethany论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USATahiliani, Jackie论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Invitae, San Francisco, CA USA GeneDx, Gaithersburg, MD 20877 USAPineda-Alvarez, Daniel论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USARichard, Gabriele论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USABrandt, Tracy论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USAHaverfield, Eden论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Invitae, San Francisco, CA USA GeneDx, Gaithersburg, MD 20877 USAChung, Wendy K.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pediat, New York, NY 10027 USA Columbia Univ, Dept Med, New York, NY USA GeneDx, Gaithersburg, MD 20877 USABale, Sherri论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA GeneDx, Gaithersburg, MD 20877 USA
- [6] Practical considerations in the clinical application of whole-exome sequencingCLINICAL GENETICS, 2016, 89 (02) : 173 - 181Shashi, V.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USAMcConkie-Rosell, A.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USASchoch, K.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USAKasturi, V.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USARehder, C.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pathol, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USAJiang, Y. H.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USAGoldstein, D. B.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Ctr Human Genome Variat, Durham, NC USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USAMcDonald, M. T.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA
- [7] Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian DisordersNEW ENGLAND JOURNAL OF MEDICINE, 2013, 369 (16): : 1502 - 1511Yang, 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 USAMuzny, 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 USAReid, 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 USABainbridge, 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 USAWillis, 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 USAWard, 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 USABraxton, 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 USABeuten, 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 USAXia, 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 USANiu, 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 USAHardison, 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 USAPerson, 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 USABekheirnia, 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 USALeduc, 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 USAKirby, 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 USAPeter 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 USAScull, 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 USAWang, 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 USADing, 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 USAPlon, 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 USALupski, 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 USABeaudet, 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 USAGibbs, 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 USAEng, 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
- [8] Clinical Utilization of Whole-Genome, Whole-Exome and Transcriptome Sequencing Integrative Analysis for Pediatric Oncology Molecular DiagnosticsJOURNAL OF MOLECULAR DIAGNOSTICS, 2016, 18 (06): : 1007 - 1007Azzato, E. M.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USARusch, M.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USAShurtleff, S.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USANakitandwe, J.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USAZhang, Z.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USAHedges, D.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USANewman, S.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USAEdmonson, M.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USAThrasher, A.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USABecksfort, J.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USAKesserwan, C.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USARaimondi, S.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USANichols, K. E.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USAEllison, D. W.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USAZhang, J.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USADowning, J.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA
- [9] Clinical utility of whole-exome sequencing in rare diseases: GalactosialidosisEUROPEAN JOURNAL OF MEDICAL GENETICS, 2014, 57 (07) : 339 - 344Prada, Carlos E.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Cardiovasc Fdn Colombia, Ctr Genom Med & Metab, Floridablanca, Colombia Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USAGonzaga-Jauregui, Claudia论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USATannenbaum, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USAPenney, Samantha论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Ctr Mendelian Genom, Houston, TX USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USALupski, 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 Ctr Mendelian Genom, Houston, TX USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USAHopkin, Robert J.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USASutton, V. Reid论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Ctr Mendelian Genom, Houston, TX USA Texas Childrens Hosp, Houston, TX 77030 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA
- [10] Clinical application of whole-exome sequencing analysis in childhood epilepsyJOURNAL OF NEUROGENETICS, 2024, 38 (04) : 187 - 194Gavaz, Meral论文数: 0 引用数: 0 h-index: 0机构: Biruni Univ, Dept Mol & Med Genet, Istanbul, Turkiye Biruni Univ, Dept Mol & Med Genet, Istanbul, TurkiyeAslan, Elif S.论文数: 0 引用数: 0 h-index: 0机构: Biruni Univ, Dept Mol & Med Genet, Istanbul, Turkiye Biruni Univ, Dept Mol & Med Genet, Istanbul, TurkiyeTekes, Selahattin论文数: 0 引用数: 0 h-index: 0机构: Dicle Univ, Fac Med, Dept Med Genet, Diyarbakir, Turkiye Biruni Univ, Dept Mol & Med Genet, Istanbul, Turkiye