Literature DB >> 24500682

A commentary on the promise of whole-exome sequencing in medical genetics.

Tadashi Kaname1, Kumiko Yanagi1, Kenji Naritomi1.   

Abstract

Mesh：

Year:  2014        PMID： 24500682     DOI： 10.1038/jhg.2014.7

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  10 in total

1.  Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing.

Authors:  Jamie K Teer; Lori L Bonnycastle; Peter S Chines; Nancy F Hansen; Natsuyo Aoyama; Amy J Swift; Hatice Ozel Abaan; Thomas J Albert; Elliott H Margulies; Eric D Green; Francis S Collins; James C Mullikin; Leslie G Biesecker
Journal:  Genome Res       Date:  2010-09-01       Impact factor: 9.043

Review 2.  The promise of whole-exome sequencing in medical genetics.

Authors:  Bahareh Rabbani; Mustafa Tekin; Nejat Mahdieh
Journal:  J Hum Genet       Date:  2013-11-07       Impact factor: 3.172

Review 3.  What can exome sequencing do for you?

Authors:  Jacek Majewski; Jeremy Schwartzentruber; Emilie Lalonde; Alexandre Montpetit; Nada Jabado
Journal:  J Med Genet       Date:  2011-07-05       Impact factor: 6.318

4.  A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

Authors:  Tadashi Kaname; Kumiko Yanagi; Kenji Naritomi
Journal:  J Hum Genet       Date:  2012-11-29       Impact factor: 3.172

5.  The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

Authors:  Yoshinori Tsurusaki; Yasuko Kobayashi; Masataka Hisano; Shuichi Ito; Hiroshi Doi; Mitsuko Nakashima; Hirotomo Saitsu; Naomichi Matsumoto; Noriko Miyake
Journal:  J Hum Genet       Date:  2012-10-04       Impact factor: 3.172

6.  Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Authors:  Yaping Yang; Donna M Muzny; Jeffrey G Reid; Matthew N Bainbridge; Alecia Willis; Patricia A Ward; Alicia Braxton; Joke Beuten; Fan Xia; Zhiyv Niu; Matthew Hardison; Richard Person; Mir Reza Bekheirnia; Magalie S Leduc; Amelia Kirby; Peter Pham; Jennifer Scull; Min Wang; Yan Ding; Sharon E Plon; James R Lupski; Arthur L Beaudet; Richard A Gibbs; Christine M Eng
Journal:  N Engl J Med       Date:  2013-10-02       Impact factor: 91.245

7.  A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective.

Authors:  Whitney L Wooderchak-Donahue; Brendan O'Fallon; Larissa V Furtado; Jacob D Durtschi; Parker Plant; Perry G Ridge; Alan F Rope; Angela T Yetman; Pinar Bayrak-Toydemir
Journal:  BMC Med Genomics       Date:  2012-11-14       Impact factor: 3.063

8.  Performance comparison of exome DNA sequencing technologies.

Authors:  Michael J Clark; Rui Chen; Hugo Y K Lam; Konrad J Karczewski; Rong Chen; Ghia Euskirchen; Atul J Butte; Michael Snyder
Journal:  Nat Biotechnol       Date:  2011-09-25       Impact factor: 68.164

9.  Exome sequencing identifies the cause of a mendelian disorder.

Authors:  Sarah B Ng; Kati J Buckingham; Choli Lee; Abigail W Bigham; Holly K Tabor; Karin M Dent; Chad D Huff; Paul T Shannon; Ethylin Wang Jabs; Deborah A Nickerson; Jay Shendure; Michael J Bamshad
Journal:  Nat Genet       Date:  2009-11-13       Impact factor: 38.330

10.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Authors:  Robert C Green; Jonathan S Berg; Wayne W Grody; Sarah S Kalia; Bruce R Korf; Christa L Martin; Amy L McGuire; Robert L Nussbaum; Julianne M O'Daniel; Kelly E Ormond; Heidi L Rehm; Michael S Watson; Marc S Williams; Leslie G Biesecker
Journal:  Genet Med       Date:  2013-06-20       Impact factor: 8.822
  10 in total
  7 in total

1.  Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants.

Authors:  Qingmei Han; Ying Yang; Shengyang Wu; Yingchun Liao; Shuang Zhang; Hongbin Liang; David S Cram; Yu Zhang
Journal:  BMC Genomics       Date:  2021-06-03       Impact factor: 3.969

2.  Deleterious genetic variants in ciliopathy genes increase risk of ritodrine-induced cardiac and pulmonary side effects.

Authors:  Heewon Seo; Eun Jin Kwon; Young-Ah You; Yoomi Park; Byung Joo Min; Kyunghun Yoo; Han-Sung Hwang; Ju Han Kim; Young Ju Kim
Journal:  BMC Med Genomics       Date:  2018-01-24       Impact factor: 3.063

3.  New tools and approaches to newborn screening: ready to open Pandora's box?

Authors:  Can Ficicioglu
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-05

4.  Identifying genetic variants associated with ritodrine-induced pulmonary edema.

Authors:  Seung Mi Lee; Yoomi Park; Young Ju Kim; Han-Sung Hwang; Heewon Seo; Byung-Joo Min; Kye Hwa Lee; So Yeon Kim; Young Mi Jung; Suehyun Lee; Chan-Wook Park; Ju Han Kim; Joong Shin Park
Journal:  PLoS One       Date:  2020-11-09       Impact factor: 3.240

5.  Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseases.

Authors:  Chong Sun; Shengyang Wu; Ruiguo Chen; Junwu Liu; Jiasen Wang; Yanyun Ma; Zhulin Yuan; Yuezhen Li
Journal:  Mol Genet Genomic Med       Date:  2022-04-07       Impact factor: 2.473

Review 6.  Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.

Authors:  Gabrielle Bertier; Martin Hétu; Yann Joly
Journal:  BMC Med Genomics       Date:  2016-08-11       Impact factor: 3.063

7.  Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome.

Authors:  Mina Zamani; Tahereh Seifi; Jawaher Zeighami; Neda Mazaheri; Emad Jahangirnezhad; Minoo Gholamzadeh; Alireza Sedaghat; Gholamreza Shariati; Hamid Galehdari
Journal:  Basic Clin Neurosci       Date:  2020-07-01
  7 in total

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