Literature DB >> 15286161

A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR.

C G Woods, E M Valente, J Bond, E Roberts.   

Abstract

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Year:  2004        PMID： 15286161      PMCID： PMC1735872          DOI： 10.1136/jmg.2003.016873

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  30 in total

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Journal:  Am J Hum Genet       Date:  2008-08-28       Impact factor: 11.025

2.  Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays.

Authors:  Seyedmehdi Shojaee; Farzad Sina; Setareh Sadat Banihosseini; Mohammad Hossein Kazemi; Reza Kalhor; Gholam-Ali Shahidi; Hossein Fakhrai-Rad; Mostafa Ronaghi; Elahe Elahi
Journal:  Am J Hum Genet       Date:  2008-06       Impact factor: 11.025

3.  Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

Authors:  Fiona Connell; Kamini Kalidas; Pia Ostergaard; Glen Brice; Tessa Homfray; Lesley Roberts; David J Bunyan; Sally Mitton; Sahar Mansour; Peter Mortimer; Steve Jeffery
Journal:  Hum Genet       Date:  2009-11-13       Impact factor: 4.132

4.  A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.

Authors:  Kunka Kamenarova; Sylvia Cherninkova; Margarita Romero Durán; DeQuincy Prescott; Maria Lourdes Valdés Sánchez; Vanio Mitev; Ivo Kremensky; Radka Kaneva; Shomi S Bhattacharya; Ivailo Tournev; Christina Chakarova
Journal:  Eur J Hum Genet       Date:  2012-08-29       Impact factor: 4.246

5.  Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.

Authors:  C Geoffrey Woods; James Cox; Kelly Springell; Daniel J Hampshire; Moin D Mohamed; Martin McKibbin; Rowena Stern; F Lucy Raymond; Richard Sandford; Saghira Malik Sharif; Gulshan Karbani; Mustaq Ahmed; Jacquelyn Bond; David Clayton; Chris F Inglehearn
Journal:  Am J Hum Genet       Date:  2006-03-21       Impact factor: 11.025

6.  Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

Authors:  C G Woods; S Stricker; P Seemann; R Stern; J Cox; E Sherridan; E Roberts; K Springell; S Scott; G Karbani; S M Sharif; C Toomes; J Bond; D Kumar; L Al-Gazali; S Mundlos
Journal:  Am J Hum Genet       Date:  2006-06-23       Impact factor: 11.025

7.  A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data.

Authors:  Shun-ichiro Fukuyama; Hiroyuki Morino; Hiroshi Miyazawa; Tomoaki Tanaka; Tomoko Suzuki; Masakazu Kohda; Hideshi Kawakami; Yasushi Okazaki; Kuniaki Seyama; Koichi Hagiwara
Journal:  BMC Bioinformatics       Date:  2010-10-15       Impact factor: 3.169

8.  LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.

Authors:  Julie Désir; Yves Sznajer; Fanny Depasse; Françoise Roulez; Marc Schrooyen; Françoise Meire; Marc Abramowicz
Journal:  Eur J Hum Genet       Date:  2010-02-24       Impact factor: 4.246

9.  Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

Authors:  Lekbir Baala; Sophie Audollent; Jéléna Martinovic; Catherine Ozilou; Marie-Claude Babron; Sivanthiny Sivanandamoorthy; Sophie Saunier; Rémi Salomon; Marie Gonzales; Eleanor Rattenberry; Chantal Esculpavit; Annick Toutain; Claude Moraine; Philippe Parent; Pascale Marcorelles; Marie-Christine Dauge; Joëlle Roume; Martine Le Merrer; Vardiella Meiner; Karen Meir; Françoise Menez; Anne-Marie Beaufrère; Christine Francannet; Julia Tantau; Martine Sinico; Yves Dumez; Fiona MacDonald; Arnold Munnich; Stanislas Lyonnet; Marie-Claire Gubler; Emmanuelle Génin; Colin A Johnson; Michel Vekemans; Férechté Encha-Razavi; Tania Attié-Bitach
Journal:  Am J Hum Genet       Date:  2007-06-04       Impact factor: 11.025

10.  HomozygosityMapper--an interactive approach to homozygosity mapping.

Authors:  Dominik Seelow; Markus Schuelke; Friedhelm Hildebrandt; Peter Nürnberg
Journal:  Nucleic Acids Res       Date:  2009-05-21       Impact factor: 16.971
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