Literature DB >> 28878605

Adding Insult to Injury, Complexity to Intricacy.

Martin Poot.   

Abstract

Year:  2017        PMID： 28878605      PMCID： PMC5582520          DOI： 10.1159/000477230

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


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  20 in total

Review 1.  Side effects of genome structural changes.

Authors:  Alexandre Reymond; Charlotte N Henrichsen; Louise Harewood; Giuseppe Merla
Journal:  Curr Opin Genet Dev       Date:  2007-10-24       Impact factor: 5.578

Review 2.  Copy-number variations, noncoding sequences, and human phenotypes.

Authors:  Eva Klopocki; Stefan Mundlos
Journal:  Annu Rev Genomics Hum Genet       Date:  2011       Impact factor: 8.929

3.  Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

Authors:  Almuth Caliebe; Hester Y Kroes; Jasper J van der Smagt; José I Martin-Subero; Holger Tönnies; Ruben van 't Slot; Rutger A J Nievelstein; Hiltrud Muhle; Ulrich Stephani; Karsten Alfke; Irina Stefanova; Yorck Hellenbroich; Gabriele Gillessen-Kaesbach; Ron Hochstenbach; Reiner Siebert; Martin Poot
Journal:  Eur J Med Genet       Date:  2010-04-09       Impact factor: 2.708

Review 4.  Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.

Authors:  R Hochstenbach; J E Buizer-Voskamp; J A S Vorstman; R A Ophoff
Journal:  Cytogenet Genome Res       Date:  2011-11-02       Impact factor: 1.636

5.  Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.

Authors:  Darío G Lupiáñez; Katerina Kraft; Verena Heinrich; Peter Krawitz; Francesco Brancati; Eva Klopocki; Denise Horn; Hülya Kayserili; John M Opitz; Renata Laxova; Fernando Santos-Simarro; Brigitte Gilbert-Dussardier; Lars Wittler; Marina Borschiwer; Stefan A Haas; Marco Osterwalder; Martin Franke; Bernd Timmermann; Jochen Hecht; Malte Spielmann; Axel Visel; Stefan Mundlos
Journal:  Cell       Date:  2015-05-07       Impact factor: 41.582

Review 6.  Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

Authors:  Martin Poot; Thomas Haaf
Journal:  Mol Syndromol       Date:  2015-08-15

7.  Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.

Authors:  Ron Hochstenbach; Ellen van Binsbergen; John Engelen; Aggie Nieuwint; Abeltje Polstra; Pino Poddighe; Claudia Ruivenkamp; Birgit Sikkema-Raddatz; Dominique Smeets; Martin Poot
Journal:  Eur J Med Genet       Date:  2009-04-09       Impact factor: 2.708

8.  Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

Authors:  Jennifer E Posey; Tamar Harel; Pengfei Liu; Jill A Rosenfeld; Regis A James; Zeynep H Coban Akdemir; Magdalena Walkiewicz; Weimin Bi; Rui Xiao; Yan Ding; Fan Xia; Arthur L Beaudet; Donna M Muzny; Richard A Gibbs; Eric Boerwinkle; Christine M Eng; V Reid Sutton; Chad A Shaw; Sharon E Plon; Yaping Yang; James R Lupski
Journal:  N Engl J Med       Date:  2016-12-07       Impact factor: 91.245

9.  Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

Authors:  Elena Boland; Jill Clayton-Smith; Victoria G Woo; Shane McKee; Forbes D C Manson; Livija Medne; Elaine Zackai; Eric A Swanson; David Fitzpatrick; Kathleen J Millen; Elliott H Sherr; William B Dobyns; Graeme C M Black
Journal:  Am J Hum Genet       Date:  2007-06-13       Impact factor: 11.025

Review 10.  Digenic inheritance in medical genetics.

Authors:  Alejandro A Schäffer
Journal:  J Med Genet       Date:  2013-06-19       Impact factor: 6.318
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