Literature DB >> 27867339

When Recessive Genes Mutate to Dominant Gene Action.

Martin Poot.   

Abstract

Year:  2016        PMID: 27867339      PMCID: PMC5109988          DOI: 10.1159/000449116

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


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  12 in total

Review 1.  A generalized model of gene dosage and dominant negative effects in macromolecular complexes.

Authors:  Reiner A Veitia
Journal:  FASEB J       Date:  2009-12-09       Impact factor: 5.191

2.  Increased paternal age and the influence on burden of genomic copy number variation in the general population.

Authors:  Jacobine E Buizer-Voskamp; Hylke M Blauw; Marco P M Boks; Kristel R van Eijk; Jan H Veldink; Eric A M Hennekam; Jacob A S Vorstman; Flip Mulder; Henning Tiemeier; André G Uitterlinden; Lambertus A Kiemeney; Leonard H van den Berg; René S Kahn; Chiara Sabatti; Roel A Ophoff
Journal:  Hum Genet       Date:  2013-01-13       Impact factor: 4.132

3.  De novo rates and selection of large copy number variation.

Authors:  Andy Itsara; Hao Wu; Joshua D Smith; Deborah A Nickerson; Isabelle Romieu; Stephanie J London; Evan E Eichler
Journal:  Genome Res       Date:  2010-09-14       Impact factor: 9.043

4.  Discovery of variants unmasked by hemizygous deletions.

Authors:  Ron Hochstenbach; Martin Poot; Isaac J Nijman; Ivo Renkens; Karen J Duran; Ruben Van't Slot; Ellen van Binsbergen; Bert van der Zwaag; Maartje J Vogel; Paulien A Terhal; Hans Kristian Ploos van Amstel; Wigard P Kloosterman; Edwin Cuppen
Journal:  Eur J Hum Genet       Date:  2012-01-18       Impact factor: 4.246

Review 5.  Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

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

6.  A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.

Authors:  John Vissing; Rita Barresi; Nanna Witting; Marijke Van Ghelue; Lise Gammelgaard; Laurence A Bindoff; Volker Straub; Hanns Lochmüller; Judith Hudson; Christoph M Wahl; Snjolaug Arnardottir; Kathe Dahlbom; Christoffer Jonsrud; Morten Duno
Journal:  Brain       Date:  2016-06-03       Impact factor: 13.501

7.  Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.

Authors:  Klara Flipsen-ten Berg; Peter M van Hasselt; Marc J Eleveld; Suzanne E van der Wijst; Frans A Hol; Monique A M de Vroede; Frits A Beemer; P F Ron Hochstenbach; Martin Poot
Journal:  Eur J Hum Genet       Date:  2007-07-18       Impact factor: 4.246

8.  Genome-wide patterns and properties of de novo mutations in humans.

Authors:  Laurent C Francioli; Paz P Polak; Amnon Koren; Androniki Menelaou; Sung Chun; Ivo Renkens; Cornelia M van Duijn; Morris Swertz; Cisca Wijmenga; Gertjan van Ommen; P Eline Slagboom; Dorret I Boomsma; Kai Ye; Victor Guryev; Peter F Arndt; Wigard P Kloosterman; Paul I W de Bakker; Shamil R Sunyaev
Journal:  Nat Genet       Date:  2015-05-18       Impact factor: 38.330

9.  Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Authors:  Johannes R Lemke; Kirsten Geider; Katherine L Helbig; Henrike O Heyne; Hannah Schütz; Julia Hentschel; Carolina Courage; Christel Depienne; Caroline Nava; Delphine Heron; Rikke S Møller; Helle Hjalgrim; Dennis Lal; Bernd A Neubauer; Peter Nürnberg; Holger Thiele; Gerhard Kurlemann; Georgianne L Arnold; Vikas Bhambhani; Deborah Bartholdi; Christeen Ramane J Pedurupillay; Doriana Misceo; Eirik Frengen; Petter Strømme; Dennis J Dlugos; Emily S Doherty; Emilia K Bijlsma; Claudia A Ruivenkamp; Mariette J V Hoffer; Amy Goldstein; Deepa S Rajan; Vinodh Narayanan; Keri Ramsey; Newell Belnap; Isabelle Schrauwen; Ryan Richholt; Bobby P C Koeleman; Joaquim Sá; Carla Mendonça; Carolien G F de Kovel; Sarah Weckhuysen; Katia Hardies; Peter De Jonghe; Linda De Meirleir; Mathieu Milh; Catherine Badens; Marine Lebrun; Tiffany Busa; Christine Francannet; Amélie Piton; Erik Riesch; Saskia Biskup; Heinrich Vogt; Thomas Dorn; Ingo Helbig; Jacques L Michaud; Bodo Laube; Steffen Syrbe
Journal:  Neurology       Date:  2016-05-06       Impact factor: 9.910

Review 10.  Properties and rates of germline mutations in humans.

Authors:  Catarina D Campbell; Evan E Eichler
Journal:  Trends Genet       Date:  2013-05-16       Impact factor: 11.639

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