Literature DB >> 24387996

Reponse to De Leeuw and Houge.

Anne-Karin Arndt1, Calum A Macrae1, Sabine Klaassen2.   

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Year:  2014        PMID： 24387996      PMCID： PMC3882908          DOI： 10.1016/j.ajhg.2013.11.011

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  2 in total

1.  The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.

Authors:  Leslie G Biesecker; James C Mullikin; Flavia M Facio; Clesson Turner; Praveen F Cherukuri; Robert W Blakesley; Gerard G Bouffard; Peter S Chines; Pedro Cruz; Nancy F Hansen; Jamie K Teer; Baishali Maskeri; Alice C Young; Teri A Manolio; Alexander F Wilson; Toren Finkel; Paul Hwang; Andrew Arai; Alan T Remaley; Vandana Sachdev; Robert Shamburek; Richard O Cannon; Eric D Green
Journal:  Genome Res       Date:  2009-07-14       Impact factor: 9.043

2.  Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.

Authors:  Anne-Karin Arndt; Sebastian Schafer; Jorg-Detlef Drenckhahn; M Khaled Sabeh; Eva R Plovie; Almuth Caliebe; Eva Klopocki; Gabriel Musso; Andreas A Werdich; Hermann Kalwa; Matthias Heinig; Robert F Padera; Katharina Wassilew; Julia Bluhm; Christine Harnack; Janine Martitz; Paul J Barton; Matthias Greutmann; Felix Berger; Norbert Hubner; Reiner Siebert; Hans-Heiner Kramer; Stuart A Cook; Calum A MacRae; Sabine Klaassen
Journal:  Am J Hum Genet       Date:  2013-06-13       Impact factor: 11.025
  2 in total
  2 in total

1.  Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation.

Authors:  Dalia F Hussen; Alaa K Kamel; Mona K Mekkawy; Engy A Ashaat; Mona O El Ruby
Journal:  Mol Syndromol       Date:  2020-09-23

2.  The importance of copy number variation in congenital heart disease.

Authors:  Gregory Costain; Candice K Silversides; Anne S Bassett
Journal:  NPJ Genom Med       Date:  2016-09-14       Impact factor: 8.617
  2 in total

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