共 50 条
- [1] Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV[J]. BIOINFORMATICS, 2011, 27 (19) : 2648 - 2654Sathirapongsasuti, Jarupon Fah论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA Dana Farber Canc Inst, Dept Biostat & Computat Biol, Boston, MA 02115 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USALee, Hane论文数: 0 引用数: 0 h-index: 0机构: 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 Pathol & Lab Med, Los Angeles, CA 90095 USA Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USAHorst, Basil A. J.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 Columbia Univ, Med Ctr, Dept Dermatol, New York, NY 10032 USA Columbia Univ, Med Ctr, Dept Pathol & Cell Biol, New York, NY 10032 USA Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USABrunner, Georg论文数: 0 引用数: 0 h-index: 0机构: Skin Canc Ctr Hornheide, Dept Canc Res, Munster, Germany Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USACochran, Alistair J.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 Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USABinder, Scott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 Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USAQuackenbush, John论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA Dana Farber Canc Inst, Dept Biostat & Computat Biol, Boston, MA 02115 USA Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USANelson, Stanley F.论文数: 0 引用数: 0 h-index: 0机构: 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 Pathol & Lab Med, Los Angeles, CA 90095 USA Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA
- [2] A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data[J]. CANCERS, 2021, 13 (24)Gabrielaite, Migle论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark论文数: 引用数: h-index:机构:Rasmussen, Malthe Sebro论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, DenmarkAndreu-Sanchez, Sergio论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark论文数: 引用数: h-index:机构:Pedersen, Christina Bligaard论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Tech Univ Denmark, Sect Bioinformat, Dept Hlth Technol, Orsteds Pl 345C, DK-2800 Lyngby, Denmark Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, DenmarkKinalis, Savvas论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, DenmarkMadsen, Majbritt Busk论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, DenmarkKodama, Miyako论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, DenmarkDemircan, Guel Sude论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, DenmarkSimonyan, Arman论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, DenmarkYde, Christina Westmose论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, DenmarkOlsen, Lars Ronn论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Tech Univ Denmark, Sect Bioinformat, Dept Hlth Technol, Orsteds Pl 345C, DK-2800 Lyngby, Denmark Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, DenmarkMarvig, Rasmus L.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmarkostrup, Olga论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, DenmarkRossing, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Univ Copenhagen, Dept Clin Med, DK-2200 Copenhagen, Denmark Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, DenmarkNielsen, Finn Cilius论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, DenmarkWinther, Ole论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Univ Copenhagen, Bioinformat Ctr, Dept Biol, Ole Maaloes Vej 5, DK-2200 Copenhagen, Denmark Tech Univ Denmark, Sect Cognit Syst, Dept Appl Math & Comp Sci, Matematiktorvet 303B, DK-2800 Lyngby, Denmark Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, DenmarkBagger, Frederik Otzen论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark UKBB Univ Kinderspital Basel, Dept Biomed, CH-4031 Basel, Switzerland Swiss Inst Bioinformat, Hebelstr 20, CH-4031 Basel, Switzerland Univ Copenhagen, Ctr Genom Med, Rigshosp, Blegdamsvej 9, DK-2100 Copenhagen, Denmark
- [3] Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease[J]. GENETICS IN MEDICINE, 2019, 21 (05) : 1121 - 1130Gross, Andrew M.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USAAjay, Subramanian S.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USARajan, Vani论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USABrown, Carolyn论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USABluske, Krista论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USABurns, Nicole J.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USAChawla, Aditi论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USACoffey, Alison J.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USAMalhotra, Alka论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USAScocchia, Alicia论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USAThorpe, Erin论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USADzidic, Natasa论文数: 0 引用数: 0 h-index: 0机构: CombiMatrix Diagnost, Irvine, CA USA Illumina Inc, San Diego, CA 92121 USAHovanes, Karine论文数: 0 引用数: 0 h-index: 0机构: CombiMatrix Diagnost, Irvine, CA USA Illumina Inc, San Diego, CA 92121 USASahoo, Trilochan论文数: 0 引用数: 0 h-index: 0机构: CombiMatrix Diagnost, Irvine, CA USA Illumina Inc, San Diego, CA 92121 USADolzhenko, Egor论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USALajoie, Bryan论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USAKhouzam, Amirah论文数: 0 引用数: 0 h-index: 0机构: Invitae Corp, San Francisco, CA USA Illumina Inc, San Diego, CA 92121 USAChowdhury, Shimul论文数: 0 引用数: 0 h-index: 0机构: Rady Childrens Inst Genom Med, Encinitas, CA USA Rady Childrens Hosp, Encinitas, CA USA Illumina Inc, San Diego, CA 92121 USABelmont, John论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USARoller, Eric论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USAIvakhno, Sergii论文数: 0 引用数: 0 h-index: 0机构: Illumina Cambridge Ltd, Saffron Walden, England Illumina Inc, San Diego, CA 92121 USATanner, Stephen论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USAMcEachern, Julia论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USAHambuch, Tina论文数: 0 引用数: 0 h-index: 0机构: Invitae Corp, San Francisco, CA USA Illumina Inc, San Diego, CA 92121 USAEberle, Michael论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USAHagelstrom, R. Tanner论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USABentley, David R.论文数: 0 引用数: 0 h-index: 0机构: Illumina Cambridge Ltd, Saffron Walden, England Illumina Inc, San Diego, CA 92121 USAPerry, Denise L.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USATaft, Ryan J.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA 92121 USA Illumina Inc, San Diego, CA 92121 USA
- [4] Comparative study of whole exome sequencing-based copy number variation detection tools[J]. BMC Bioinformatics, 21Lanling Zhao论文数: 0 引用数: 0 h-index: 0机构: Xi’an Jiaotong University,Department of Biomedical Engineering, School of Life Science and TechnologyHan Liu论文数: 0 引用数: 0 h-index: 0机构: Xi’an Jiaotong University,Department of Biomedical Engineering, School of Life Science and TechnologyXiguo Yuan论文数: 0 引用数: 0 h-index: 0机构: Xi’an Jiaotong University,Department of Biomedical Engineering, School of Life Science and TechnologyKun Gao论文数: 0 引用数: 0 h-index: 0机构: Xi’an Jiaotong University,Department of Biomedical Engineering, School of Life Science and TechnologyJunbo Duan论文数: 0 引用数: 0 h-index: 0机构: Xi’an Jiaotong University,Department of Biomedical Engineering, School of Life Science and Technology
- [5] Comparative study of whole exome sequencing-based copy number variation detection tools[J]. BMC BIOINFORMATICS, 2020, 21 (01)Zhao, Lanling论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Sch Life Sci & Technol, Dept Biomed Engn, Xian, Peoples R China Xi An Jiao Tong Univ, Sch Life Sci & Technol, Dept Biomed Engn, Xian, Peoples R ChinaLiu, Han论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Sch Life Sci & Technol, Dept Biomed Engn, Xian, Peoples R China Xi An Jiao Tong Univ, Sch Life Sci & Technol, Dept Biomed Engn, Xian, Peoples R ChinaYuan, Xiguo论文数: 0 引用数: 0 h-index: 0机构: Xidian Univ, Sch Comp Sci & Technol, Xian, Peoples R China Xi An Jiao Tong Univ, Sch Life Sci & Technol, Dept Biomed Engn, Xian, Peoples R ChinaGao, Kun论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Sch Life Sci & Technol, Dept Biomed Engn, Xian, Peoples R China Xi An Jiao Tong Univ, Sch Life Sci & Technol, Dept Biomed Engn, Xian, Peoples R ChinaDuan, Junbo论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Sch Life Sci & Technol, Dept Biomed Engn, Xian, Peoples R China Xi An Jiao Tong Univ, Sch Life Sci & Technol, Dept Biomed Engn, Xian, Peoples R China
- [6] Exome sequencing and whole genome sequencing for the detection of copy number variation[J]. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 2015, 15 (08) : 1023 - 1032Hehir-Kwa, Jayne Y.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsPfundt, Rolph论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Inst Mol Life Sci, Nijmegen, Netherlands Donders Ctr Neurosci, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsVeltman, Joris A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Inst Mol Life Sci, Nijmegen, Netherlands Donders Ctr Neurosci, Nijmegen, Netherlands Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands
- [7] Whole genome sequencing-based copy number variations reveal novel pathways and targets in Alzheimer's disease[J]. ALZHEIMERS & DEMENTIA, 2022, 18 (10) : 1846 - 1867Ming, Chen论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Mt Sinai Ctr Transformat Dis Modeling, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Icahn Inst Genom & Multiscale Biol, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USAWang, Minghui论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Mt Sinai Ctr Transformat Dis Modeling, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Icahn Inst Genom & Multiscale Biol, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USAWang, Qian论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Mt Sinai Ctr Transformat Dis Modeling, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Icahn Inst Genom & Multiscale Biol, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USANeff, Ryan论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Mt Sinai Ctr Transformat Dis Modeling, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Icahn Inst Genom & Multiscale Biol, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USAWang, Erming论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Mt Sinai Ctr Transformat Dis Modeling, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Icahn Inst Genom & Multiscale Biol, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USAShen, Qi论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Mt Sinai Ctr Transformat Dis Modeling, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Icahn Inst Genom & Multiscale Biol, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USAReddy, Joseph S.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin Florida, Dept Quantitat Hlth Sci, Jacksonville, FL USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USAWang, Xue论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin Florida, Dept Quantitat Hlth Sci, Jacksonville, FL USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USAAllen, Mariet论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin Florida, Dept Neurosci, Jacksonville, FL USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USAErtekin-Taner, Nilufer论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin Florida, Dept Neurosci, Jacksonville, FL USA Mayo Clin Florida, Dept Neurol, Jacksonville, FL USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USADe Jager, Philip L.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Neurol, Ctr Translat & Computat Neuroimmunol, Med Ctr, New York, NY USA Columbia Univ, Taub Inst, Med Ctr, New York, NY USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USABennett, David A.论文数: 0 引用数: 0 h-index: 0机构: Rush Univ, Med Ctr, Rush Alzheimers Dis Ctr, Chicago, IL 60612 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USAHaroutunian, Vahram论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Nash Family Dept Neurosci, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Alzheimers Dis Res Ctr, New York, NY 10029 USA JJ Peters VA Med Ctr, Psychiat, New York, NY USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USASchadt, Eric论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Mt Sinai Ctr Transformat Dis Modeling, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USAZhang, Bin论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Mt Sinai Ctr Transformat Dis Modeling, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Icahn Inst Genom & Multiscale Biol, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA
- [8] Whole exome sequencing-based copy number variant detection in inherited retinal disease[J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)Coppieters, Frauke论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumVan de Sompele, Stijn论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumVan Schil, Kristof论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumVan Laethem, Thalia论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumSix, Rani论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet Ghent, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumDe Jaegere, Sarah论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumMeire, Francoise论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Enfants Reine Fabiola, Dept Ophthalmol, Brussels, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumDe Vries, Meindert论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Enfants Reine Fabiola, Dept Ophthalmol, Brussels, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumBalikova, Irina论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Ophthalmol, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumDe Zaeytijd, Julie论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Ophthalmol, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumLeroy, Bart P.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, Belgium Ghent Univ Hosp, Dept Ophthalmol, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, BelgiumRosseel, Toon论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet Ghent, Ghent, Belgium论文数: 引用数: h-index:机构:
- [9] Whole genome sequencing for copy number variation and structural variant analyses[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 619 - 620Chatron, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Serv Genet Hcl, Bron, France Serv Genet Hcl, Bron, FranceBernard, Virginie论文数: 0 引用数: 0 h-index: 0机构: Auragen, Grenoble, France Serv Genet Hcl, Bron, FranceRichard, Celine论文数: 0 引用数: 0 h-index: 0机构: Chu Clermont Fd Estaing, Clermont Ferrand, France Serv Genet Hcl, Bron, FranceSalaun, Gaelle论文数: 0 引用数: 0 h-index: 0机构: Chu Clermont Fd Estaing, Clermont Ferrand, France Serv Genet Hcl, Bron, FranceGouas, Laetitia论文数: 0 引用数: 0 h-index: 0机构: Chu Clermont Fd Estaing, Clermont Ferrand, France Serv Genet Hcl, Bron, FranceMichel-Calemard, Laurence论文数: 0 引用数: 0 h-index: 0机构: Serv Genet Hcl, Bron, France Serv Genet Hcl, Bron, FranceCharret, Quentin论文数: 0 引用数: 0 h-index: 0机构: Auragen, Grenoble, France Serv Genet Hcl, Bron, FranceKlein, Valentin论文数: 0 引用数: 0 h-index: 0机构: Auragen, Grenoble, France Serv Genet Hcl, Bron, FranceFancello, Laura论文数: 0 引用数: 0 h-index: 0机构: Auragen, Grenoble, France Serv Genet Hcl, Bron, FranceNicolas, Laury论文数: 0 引用数: 0 h-index: 0机构: Auragen, Grenoble, France Serv Genet Hcl, Bron, FranceViari, Alain论文数: 0 引用数: 0 h-index: 0机构: Leon Berard Ctr, Lyon, France Auragen, Lyon, France Serv Genet Hcl, Bron, FranceFerrari, Anthony论文数: 0 引用数: 0 h-index: 0机构: Leon Berard Ctr, Lyon, France Auragen, Lyon, France Serv Genet Hcl, Bron, FranceBlay, Jean Yves论文数: 0 引用数: 0 h-index: 0机构: Auragen, Lyon, France Serv Genet Hcl, Bron, FranceTill, Marianne论文数: 0 引用数: 0 h-index: 0机构: Serv Genet Hcl, Bron, France Serv Genet Hcl, Bron, FranceTouraine, Renaud论文数: 0 引用数: 0 h-index: 0机构: Chu Nord St Etienne, St Priest En Jarez, France Serv Genet Hcl, Bron, FranceRamond, Francis论文数: 0 引用数: 0 h-index: 0机构: Chu Nord St Etienne, St Priest En Jarez, France Serv Genet Hcl, Bron, FranceHarzallah, Ines论文数: 0 引用数: 0 h-index: 0机构: Chu Nord St Etienne, St Priest En Jarez, France Serv Genet Hcl, Bron, FranceHarbuz, Radu论文数: 0 引用数: 0 h-index: 0机构: Chu Grenoble Alpes, Serv Genet, La Tronche, France Serv Genet Hcl, Bron, FranceSatre, Veronique论文数: 0 引用数: 0 h-index: 0机构: Chu Grenoble Alpes, Serv Genet, La Tronche, France Serv Genet Hcl, Bron, FranceSchluth-Bolard, Caroline论文数: 0 引用数: 0 h-index: 0机构: Serv Genet Hcl, Bron, France CHU Strasbourg, Strasbourg, France Serv Genet Hcl, Bron, FranceVago, Philippe论文数: 0 引用数: 0 h-index: 0机构: Chu Clermont Fd Estaing, Clermont Ferrand, France Serv Genet Hcl, Bron, FranceCoutton, Charles论文数: 0 引用数: 0 h-index: 0机构: Chu Grenoble Alpes, Serv Genet, La Tronche, France Serv Genet Hcl, Bron, FranceVinciguerra, Christine论文数: 0 引用数: 0 h-index: 0机构: Auragen, Lyon, France ISPB Fac Pharm Lyon, Lyon, France Serv Genet Hcl, Bron, FranceSanlaville, Damien论文数: 0 引用数: 0 h-index: 0机构: Serv Genet Hcl, Bron, France Auragen, Lyon, France Serv Genet Hcl, Bron, FranceThevenon, Julien论文数: 0 引用数: 0 h-index: 0机构: Auragen, Grenoble, France Chu Grenoble Alpes, Serv Genet, La Tronche, France Serv Genet Hcl, Bron, France
- [10] Copy number variants in clinical whole genome sequencing: deployment and interpretation for rare and undiagnosed disease[J]. CANCER GENETICS, 2018, 224 : 71 - 71Gross, Andrew M.论文数: 0 引用数: 0 h-index: 0机构: Illumina, San Diego, CA USA Illumina, San Diego, CA USA