Literature DB >> 25102095

A commentary on exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.

Liangdan Sun1.   

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Year:  2014        PMID: 25102095     DOI: 10.1038/jhg.2014.68

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


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  6 in total

1.  A de novo paradigm for mental retardation.

Authors:  Lisenka E L M Vissers; Joep de Ligt; Christian Gilissen; Irene Janssen; Marloes Steehouwer; Petra de Vries; Bart van Lier; Peer Arts; Nienke Wieskamp; Marisol del Rosario; Bregje W M van Bon; Alexander Hoischen; Bert B A de Vries; Han G Brunner; Joris A Veltman
Journal:  Nat Genet       Date:  2010-11-14       Impact factor: 38.330

2.  Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

Authors:  Matthew A Deardorff; Maninder Kaur; Dinah Yaeger; Abhinav Rampuria; Sergey Korolev; Juan Pie; Concepcion Gil-Rodríguez; María Arnedo; Bart Loeys; Antonie D Kline; Meredith Wilson; Kaj Lillquist; Victoria Siu; Feliciano J Ramos; Antonio Musio; Laird S Jackson; Dale Dorsett; Ian D Krantz
Journal:  Am J Hum Genet       Date:  2007-01-17       Impact factor: 11.025

Review 3.  Exome sequencing greatly expedites the progressive research of Mendelian diseases.

Authors:  Xuejun Zhang
Journal:  Front Med       Date:  2014-01-03       Impact factor: 4.592

4.  Analysis of genetic inheritance in a family quartet by whole-genome sequencing.

Authors:  Jared C Roach; Gustavo Glusman; Arian F A Smit; Chad D Huff; Robert Hubley; Paul T Shannon; Lee Rowen; Krishna P Pant; Nathan Goodman; Michael Bamshad; Jay Shendure; Radoje Drmanac; Lynn B Jorde; Leroy Hood; David J Galas
Journal:  Science       Date:  2010-03-10       Impact factor: 47.728

5.  Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.

Authors:  Lei Feng; Daizhan Zhou; Zhou Zhang; Yun Liu; Yabo Yang
Journal:  J Hum Genet       Date:  2014-08-07       Impact factor: 3.172

6.  Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Authors:  Frank J Kaiser; Morad Ansari; Diana Braunholz; María Concepción Gil-Rodríguez; Christophe Decroos; Jonathan J Wilde; Christopher T Fincher; Maninder Kaur; Masashige Bando; David J Amor; Paldeep S Atwal; Melanie Bahlo; Christine M Bowman; Jacquelyn J Bradley; Han G Brunner; Dinah Clark; Miguel Del Campo; Nataliya Di Donato; Peter Diakumis; Holly Dubbs; David A Dyment; Juliane Eckhold; Sarah Ernst; Jose C Ferreira; Lauren J Francey; Ulrike Gehlken; Encarna Guillén-Navarro; Yolanda Gyftodimou; Bryan D Hall; Raoul Hennekam; Louanne Hudgins; Melanie Hullings; Jennifer M Hunter; Helger Yntema; A Micheil Innes; Antonie D Kline; Zita Krumina; Hane Lee; Kathleen Leppig; Sally Ann Lynch; Mark B Mallozzi; Linda Mannini; Shane McKee; Sarju G Mehta; Ieva Micule; Shehla Mohammed; Ellen Moran; Geert R Mortier; Joe-Ann S Moser; Sarah E Noon; Naohito Nozaki; Luis Nunes; John G Pappas; Lynette S Penney; Antonio Pérez-Aytés; Michael B Petersen; Beatriz Puisac; Nicole Revencu; Elizabeth Roeder; Sulagna Saitta; Angela E Scheuerle; Karen L Schindeler; Victoria M Siu; Zornitza Stark; Samuel P Strom; Heidi Thiese; Inga Vater; Patrick Willems; Kathleen Williamson; Louise C Wilson; Hakon Hakonarson; Fabiola Quintero-Rivera; Jolanta Wierzba; Antonio Musio; Gabriele Gillessen-Kaesbach; Feliciano J Ramos; Laird G Jackson; Katsuhiko Shirahige; Juan Pié; David W Christianson; Ian D Krantz; David R Fitzpatrick; Matthew A Deardorff
Journal:  Hum Mol Genet       Date:  2014-01-08       Impact factor: 5.121

  6 in total
  1 in total

1.  A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.

Authors:  Cristina Lucia-Campos; Irene Valenzuela; Ana Latorre-Pellicer; David Ros-Pardo; Marta Gil-Salvador; María Arnedo; Beatriz Puisac; Neus Castells; Alberto Plaja; Anna Tenes; Ivon Cuscó; Laura Trujillano; Feliciano J Ramos; Eduardo F Tizzano; Paulino Gómez-Puertas; Juan Pié
Journal:  Genes (Basel)       Date:  2022-08-08       Impact factor: 4.141

  1 in total

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