Literature DB >> 26035799

The challenge of defining pathogenicity: the example of AHI1.

Raoul Heller1, Hanno J Bolz2.   

Abstract

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Year:  2015        PMID： 26035799     DOI： 10.1038/gim.2015.46

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  3 in total

1.  Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

Authors:  Solaf M Elsayed; Jennifer B Phillips; Raoul Heller; Michaela Thoenes; Ezzat Elsobky; Gudrun Nürnberg; Peter Nürnberg; Saskia Seland; Inga Ebermann; Janine Altmüller; Holger Thiele; Mohammad Toliat; Friederike Körber; Xue-Jia Hu; Yun-Dong Wu; Maha S Zaki; Ghada Abdel-Salam; Joseph Gleeson; Eugen Boltshauser; Monte Westerfield; Hanno J Bolz
Journal:  Hum Mol Genet       Date:  2015-01-23       Impact factor: 6.150

2.  DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

Authors:  Hester Y Kroes; Patrick H A van Zon; Dietje Fransen van de Putte; Marcel R Nelen; Rutger-Jan Nievelstein; Dienke Wittebol-Post; Onno van Nieuwenhuizen; Grazia M S Mancini; Marjo S van der Knaap; Mei Lan Kwee; Saskia M Maas; Jan Maarten Cobben; Jacques E E De Nef; Dick Lindhout; Richard J Sinke
Journal:  Eur J Med Genet       Date:  2007-10-06       Impact factor: 2.708

3.  Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

Authors:  Xiu-Feng Huang; Fang Huang; Kun-Chao Wu; Juan Wu; Jie Chen; Chi-Pui Pang; Fan Lu; Jia Qu; Zi-Bing Jin
Journal:  Genet Med       Date:  2014-11-06       Impact factor: 8.822
  3 in total
  2 in total

1.  Response to Heller and Bolz.

Authors:  Zi-Bing Jin; Xiu-Feng Huang
Journal:  Genet Med       Date:  2015-06       Impact factor: 8.822

2.  Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

Authors:  Thanh-Minh T Nguyen; Sarah Hull; Ronald Roepman; L Ingeborgh van den Born; Machteld M Oud; Erik de Vrieze; Lisette Hetterschijt; Stef J F Letteboer; Sylvia E C van Beersum; Ellen A Blokland; Helger G Yntema; Frans P M Cremers; Paul A van der Zwaag; Gavin Arno; Erwin van Wijk; Andrew R Webster; Lonneke Haer-Wigman
Journal:  J Med Genet       Date:  2017-04-25       Impact factor: 6.318
  2 in total

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