Lessons learned from additional research analyses of unsolved clinical exome cases

被引：0

作者：

Mohammad K. Eldomery

Zeynep Coban-Akdemir

Tamar Harel

Jill A. Rosenfeld

Tomasz Gambin

Asbjørg Stray-Pedersen

Sébastien Küry

Sandra Mercier

Davor Lessel

Jonas Denecke

Wojciech Wiszniewski

Samantha Penney

Pengfei Liu

Weimin Bi

Seema R. Lalani

Christian P. Schaaf

Michael F. Wangler

Carlos A. Bacino

Richard Alan Lewis

Lorraine Potocki

Brett H. Graham

John W. Belmont

Fernando Scaglia

Jordan S. Orange

Shalini N. Jhangiani

Theodore Chiang

Harsha Doddapaneni

Jianhong Hu

Donna M. Muzny

Fan Xia

Arthur L. Beaudet

Eric Boerwinkle

Christine M. Eng

Sharon E. Plon

V. Reid Sutton

Richard A. Gibbs

Jennifer E. Posey

Yaping Yang

James R. Lupski

机构：

[1] Baylor College of Medicine,Department of Molecular and Human Genetics

[2] Institute of Computer Science,Department of Pediatrics

[3] Warsaw University of Technology,Department of Pediatrics

[4] Norwegian National Unit for Newborn Screening,Department of Molecular and Human Genetics

[5] Women and Children’s Division,Present Address: Department of Pathology and Laboratory Medicine

[6] Oslo University Hospital,undefined

[7] CHU Nantes,undefined

[8] Service de Génétique Médicale,undefined

[9] Atlantic Gene Therapies,undefined

[10] UMR1089,undefined

[11] Institute of Human Genetics,undefined

[12] University Medical Center Hamburg-Eppendorf,undefined

[13] University Medical Center Hamburg-Eppendorf,undefined

[14] Texas Children’s Hospital,undefined

[15] Baylor Genetics,undefined

[16] Baylor College of Medicine,undefined

[17] Jan and Dan Duncan Neurological Research Institute,undefined

[18] Texas Children’s Hospital,undefined

[19] Baylor College of Medicine,undefined

[20] Texas Children’s Hospital Center for Human Immuno-Biology,undefined

[21] Human Genome Sequencing Center,undefined

[22] Baylor College of Medicine,undefined

[23] Human Genetics Center,undefined

[24] University of Texas Health Science Center at Houston,undefined

[25] Texas Children’s Cancer Center,undefined

[26] Texas Children’s Hospital,undefined

[27] Baylor-Hopkins Center for Mendelian Genomics,undefined

[28] Baylor College of Medicine,undefined

[29] Indiana University School of Medicine,undefined

来源：

Genome Medicine | / 9卷

关键词：

Copy Number Variant; Molecular Diagnosis; Pathogenic Variant; Single Nucleotide Variant; Whole Exome Sequencing;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

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[1] Lessons learned from additional research analyses of unsolved clinical exome cases
Eldomery, Mohammad K.
Coban-Akdemir, Zeynep
Harel, Tamar
Rosenfeld, Jill A.
Gambin, Tomasz
Stray-Pedersen, Asbjorg
Kury, Sebastien
Mercier, Sandra
Lessel, Davor
Denecke, Jonas
Wiszniewski, Wojciech
Penney, Samantha
Liu, Pengfei
Bi, Weimin
Lalani, Seema R.
Schaaf, Christian P.
Wangler, Michael F.
Bacino, Carlos A.
Lewis, Richard Alan
Potocki, Lorraine
Graham, Brett H.
Belmont, Johnw.
Scaglia, Fernando
Orange, Jordan S.
Jhangiani, Shalini N.
Chiang, Theodore
Doddapaneni, Harsha
Hu, Jianhong
Muzny, Donna M.
Xia, Fan
Beaudet, Arthur L.
Boerwinkle, Eric
Eng, Christine M.
Plon, Sharon E.
Sutton, V. Reid
Gibbs, Richard A.
Posey, Jennifer E.
Yang, Yaping
Lupski, James R.
[J]. GENOME MEDICINE, 2017, 9
[2] A flexible computational pipeline for research analyses of unsolved clinical exome cases
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[J]. NPJ GENOMIC MEDICINE, 2020, 5 (01)
[3] A flexible computational pipeline for research analyses of unsolved clinical exome cases
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[4] Lessons from the clinical exome: description of three cases
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[J]. JOURNAL OF DERMATOLOGIC SURGERY AND ONCOLOGY, 1984, 10 (10): : 791 - 791
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[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 577 - 577
[9] Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals
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van Koolwijk, Martine P. A.
van Agt, Frans
Arens, Yvonne H. J. M.
Brunner, Han G.
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[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (02) : 170 - 177
[10] Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals
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Frans van Agt
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[J]. European Journal of Human Genetics, 2022, 30 : 170 - 177

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