Literature DB >> 15377505

HaploPainter: a tool for drawing pedigrees with complex haplotypes.

Holger Thiele1, Peter Nürnberg.   

Abstract

UNLABELLED: HaploPainter is a user-friendly pedigree-drawing application with special features for easy visualization of complex haplotype information. It has been developed to facilitate gene mapping in Mendelian diseases in terms of fast and reliable definition of the smallest critical interval harbouring the underlying gene defect. HaploPainter is written in Perl and may be used for visualization of haplotypes calculated by any of the common linkage programs. With special features like haplotype compression or the ability of marker section cut-out it particularly addresses the requirements for viewing large haplotypes as obtained by using for genome scans high-density marker panels of many thousands of single nucleotide polymorphisms (SNPs). AVAILABILITY: http://haplopainter.sourceforge.net/ CONTACT: holger.thiele@uni-koeln.de.

Entities:  

Mesh：

Year:  2004        PMID： 15377505     DOI： 10.1093/bioinformatics/bth488

Source DB:  PubMed          Journal:  Bioinformatics        ISSN： 1367-4803            Impact factor:   6.937


  139 in total

1.  Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

Authors:  Julian Schubert; Aleksandra Siekierska; Mélanie Langlois; Patrick May; Clément Huneau; Felicitas Becker; Hiltrud Muhle; Arvid Suls; Johannes R Lemke; Carolien G F de Kovel; Holger Thiele; Kathryn Konrad; Amit Kawalia; Mohammad R Toliat; Thomas Sander; Franz Rüschendorf; Almuth Caliebe; Inga Nagel; Bernard Kohl; Angela Kecskés; Maxime Jacmin; Katia Hardies; Sarah Weckhuysen; Erik Riesch; Thomas Dorn; Eva H Brilstra; Stephanie Baulac; Rikke S Møller; Helle Hjalgrim; Bobby P C Koeleman; Karin Jurkat-Rott; Frank Lehman-Horn; Jared C Roach; Gustavo Glusman; Leroy Hood; David J Galas; Benoit Martin; Peter A M de Witte; Saskia Biskup; Peter De Jonghe; Ingo Helbig; Rudi Balling; Peter Nürnberg; Alexander D Crawford; Camila V Esguerra; Yvonne G Weber; Holger Lerche
Journal:  Nat Genet       Date:  2014-11-02       Impact factor: 38.330

2.  LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

Authors:  Yun Li; Barbara Pawlik; Nursel Elcioglu; Mona Aglan; Hülya Kayserili; Gökhan Yigit; Ferda Percin; Frances Goodman; Gudrun Nürnberg; Asim Cenani; Jill Urquhart; Boi-Dinh Chung; Samira Ismail; Khalda Amr; Ayca D Aslanger; Christian Becker; Christian Netzer; Pete Scambler; Wafaa Eyaid; Hanan Hamamy; Jill Clayton-Smith; Raoul Hennekam; Peter Nürnberg; Joachim Herz; Samia A Temtamy; Bernd Wollnik
Journal:  Am J Hum Genet       Date:  2010-04-08       Impact factor: 11.025

3.  Novel genetic findings in an extended family pedigree with sleepwalking.

Authors:  A K Licis; D M Desruisseau; K A Yamada; S P Duntley; C A Gurnett
Journal:  Neurology       Date:  2011-01-04       Impact factor: 9.910

4.  Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.

Authors:  Orly Agamy; Bruria Ben Zeev; Dorit Lev; Barak Marcus; Dina Fine; Dan Su; Ginat Narkis; Rivka Ofir; Chen Hoffmann; Esther Leshinsky-Silver; Hagit Flusser; Sara Sivan; Dieter Söll; Tally Lerman-Sagie; Ohad S Birk
Journal:  Am J Hum Genet       Date:  2010-10-08       Impact factor: 11.025

5.  Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.

Authors:  A B Ekici; D Hilfinger; M Jatzwauk; C T Thiel; D Wenzel; I Lorenz; E Boltshauser; T W Goecke; G Staatz; D J Morris-Rosendahl; H Sticht; U Hehr; A Reis; A Rauch
Journal:  Mol Syndromol       Date:  2010-09-14

6.  Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.

Authors:  Shazia Ashraf; Bethan E Hoskins; Hassan Chaib; Julia Hoefele; Andreas Pasch; Pawaree Saisawat; Friedrich Trefz; Hans W Hacker; Gudrun Nuernberg; Peter Nuernberg; Edgar A Otto; Friedhelm Hildebrandt
Journal:  Nephrol Dial Transplant       Date:  2009-12-10       Impact factor: 5.992

Review 7.  A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.

Authors:  Melinda Zombor; Tibor Kalmár; Nikoletta Nagy; Marianne Berényi; Borbála Telcs; Zoltán Maróti; Oliver Brandau; László Sztriha
Journal:  J Appl Genet       Date:  2019-02-01       Impact factor: 3.240

8.  Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.

Authors:  Ali Jalali; Kimberly A Aldinger; Ajit Chary; David G McLone; Robin M Bowman; Luan Cong Le; Phillip Jardine; Ruth Newbury-Ecob; Andrew Mallick; Nadereh Jafari; Eric J Russell; John Curran; Pam Nguyen; Karim Ouahchi; Charles Lee; William B Dobyns; Kathleen J Millen; Joao M Pina-Neto; John A Kessler; Alexander G Bassuk
Journal:  Hum Genet       Date:  2008-01-19       Impact factor: 4.132

9.  A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Authors:  Sze Chern Lim; Katherine R Smith; David A Stroud; Alison G Compton; Elena J Tucker; Ayan Dasvarma; Luke C Gandolfo; Justine E Marum; Matthew McKenzie; Heidi L Peters; David Mowat; Peter G Procopis; Bridget Wilcken; John Christodoulou; Garry K Brown; Michael T Ryan; Melanie Bahlo; David R Thorburn
Journal:  Am J Hum Genet       Date:  2014-01-23       Impact factor: 11.025

10.  Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

Authors:  Velina Guergueltcheva; Dimitar N Azmanov; Dora Angelicheva; Katherine R Smith; Teodora Chamova; Laura Florez; Michael Bynevelt; Thai Nguyen; Sylvia Cherninkova; Veneta Bojinova; Ara Kaprelyan; Lyudmila Angelova; Bharti Morar; David Chandler; Radka Kaneva; Melanie Bahlo; Ivailo Tournev; Luba Kalaydjieva
Journal:  Am J Hum Genet       Date:  2012-08-16       Impact factor: 11.025
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