Literature DB >> 21536725

Genomic contributions to Mendelian disease.

Aravinda Chakravarti1.   

Abstract

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Year:  2011        PMID： 21536725      PMCID： PMC3083080          DOI： 10.1101/gr.123554.111

Source DB:  PubMed          Journal:  Genome Res        ISSN： 1088-9051            Impact factor:   9.043


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  4 in total

1.  Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.

Authors:  Yaniv Erlich; Simon Edvardson; Emily Hodges; Shamir Zenvirt; Pramod Thekkat; Avraham Shaag; Talya Dor; Gregory J Hannon; Orly Elpeleg
Journal:  Genome Res       Date:  2011-04-12       Impact factor: 9.043

2.  A map of human genome variation from population-scale sequencing.

Authors:  Gonçalo R Abecasis; David Altshuler; Adam Auton; Lisa D Brooks; Richard M Durbin; Richard A Gibbs; Matt E Hurles; Gil A McVean
Journal:  Nature       Date:  2010-10-28       Impact factor: 49.962

3.  Targeted capture and massively parallel sequencing of 12 human exomes.

Authors:  Sarah B Ng; Emily H Turner; Peggy D Robertson; Steven D Flygare; Abigail W Bigham; Choli Lee; Tristan Shaffer; Michelle Wong; Arindam Bhattacharjee; Evan E Eichler; Michael Bamshad; Deborah A Nickerson; Jay Shendure
Journal:  Nature       Date:  2009-08-16       Impact factor: 49.962

4.  The Human Gene Mutation Database: 2008 update.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Katy Howells; Andrew D Phillips; Nick St Thomas; David N Cooper
Journal:  Genome Med       Date:  2009-01-22       Impact factor: 11.117
  4 in total
  9 in total

1.  Finding disease variants in Mendelian disorders by using sequence data: methods and applications.

Authors:  Iuliana Ionita-Laza; Vlad Makarov; Seungtai Yoon; Benjamin Raby; Joseph Buxbaum; Dan L Nicolae; Xihong Lin
Journal:  Am J Hum Genet       Date:  2011-12-01       Impact factor: 11.025

2.  Development of the variant calling algorithm, ADIScan, and its use to estimate discordant sequences between monozygotic twins.

Authors:  Yangrae Cho; Sunho Lee; Jong Hui Hong; Byong Joon Kim; Woon-Young Hong; Jongcheol Jung; Hyang Burm Lee; Joohon Sung; Han-Na Kim; Hyung-Lae Kim; Jongsun Jung
Journal:  Nucleic Acids Res       Date:  2018-09-06       Impact factor: 16.971

3.  Phen-Gen: combining phenotype and genotype to analyze rare disorders.

Authors:  Asif Javed; Saloni Agrawal; Pauline C Ng
Journal:  Nat Methods       Date:  2014-08-03       Impact factor: 28.547

4.  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

5.  Definition and refinement of the 7q36.3 duplication region associated with schizophrenia.

Authors:  Branko Aleksic; Itaru Kushima; Tamae Ohye; Masashi Ikeda; Shohko Kunimoto; Yukako Nakamura; Akira Yoshimi; Takayoshi Koide; Shuji Iritani; Hiroki Kurahashi; Nakao Iwata; Norio Ozaki
Journal:  Sci Rep       Date:  2013       Impact factor: 4.379

6.  A Novel Zebrafish ret Heterozygous Model of Hirschsprung Disease Identifies a Functional Role for mapk10 as a Modifier of Enteric Nervous System Phenotype Severity.

Authors:  Tiffany A Heanue; Werend Boesmans; Donald M Bell; Koichi Kawakami; Pieter Vanden Berghe; Vassilis Pachnis
Journal:  PLoS Genet       Date:  2016-11-30       Impact factor: 5.917

7.  Case study of sequence capture enrichment technology: identification of variation underpinning developmental syndromes in an amniote model.

Authors:  Elizabeth A Robb; Mary E Delany
Journal:  Genes (Basel)       Date:  2012-03-26       Impact factor: 4.096

8.  Spurious transcription factor binding: non-functional or genetically redundant?

Authors:  Mikhail Spivakov
Journal:  Bioessays       Date:  2014-05-30       Impact factor: 4.345

9.  Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.

Authors:  Yangrae Cho; Chul-Ho Lee; Eun-Goo Jeong; Min-Ho Kim; Jong Hui Hong; Younhee Ko; Bomnun Lee; Gilly Yun; Byong Joon Kim; Jongcheol Jung; Jongsun Jung; Jin-Sung Lee
Journal:  Sci Rep       Date:  2017-08-29       Impact factor: 4.379
  9 in total

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