Literature DB >> 17392796

Analysis of published PKD1 gene sequence variants.

Alexander M Gout, David Ravine, Peter C Harris, Sandro Rossetti, Dorien Peters, Martijn Breuning, Elizabeth Petri Henske, Akio Koizumi, Sumiko Inoue, Yoshiko Shimizu, Wanna Thongnoppakhun, Pa-thai Yenchitsomanus, Constantinos Deltas, Richard Sandford, Roser Torra, Alberto E Turco, Steve Jeffery, Michel Fontes, Stefan Somlo, Laszlo M Furu, Yvo M Smulders, Bernard Mercier, Claude Ferec, Stéphane Burtey, York Pei, Luba Kalaydjieva, Nadja Bogdanova, Marie McCluskey, Lee Jung Geon, C H Wouters, Jana Reiterova, Jitka Stekrová, Jose L San Millan, Gianluca Aguiari, Laura Del Senno.   

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Year:  2007        PMID： 17392796     DOI： 10.1038/ng0407-427

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  10 in total

Review 1.  Human genotype-phenotype databases: aims, challenges and opportunities.

Authors:  Anthony J Brookes; Peter N Robinson
Journal:  Nat Rev Genet       Date:  2015-11-10       Impact factor: 53.242

2.  Recommendations for locus-specific databases and their curation.

Authors:  R G H Cotton; A D Auerbach; J S Beckmann; O O Blumenfeld; A J Brookes; A F Brown; P Carrera; D W Cox; B Gottlieb; M S Greenblatt; P Hilbert; H Lehvaslaiho; P Liang; S Marsh; D W Nebert; S Povey; S Rossetti; C R Scriver; M Summar; D R Tolan; I C Verma; M Vihinen; J T den Dunnen
Journal:  Hum Mutat       Date:  2008-01       Impact factor: 4.878

3.  Towards a European consensus for reporting incidental findings during clinical NGS testing.

Authors:  Jayne Y Hehir-Kwa; Mireille Claustres; Ros J Hastings; Conny van Ravenswaaij-Arts; Gabrielle Christenhusz; Maurizio Genuardi; Béla Melegh; Anne Cambon-Thomsen; Philippos Patsalis; Joris Vermeesch; Martina C Cornel; Beverly Searle; Aarno Palotie; Ettore Capoluongo; Borut Peterlin; Xavier Estivill; Peter N Robinson
Journal:  Eur J Hum Genet       Date:  2015-06-03       Impact factor: 4.246

Review 4.  The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

Authors:  Judy Savige; Raymond Dalgleish; Richard Gh Cotton; Johan T den Dunnen; Finlay Macrae; Sue Povey
Journal:  Pediatr Nephrol       Date:  2014-11-11       Impact factor: 3.714

5.  Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.

Authors:  Marc S Greenblatt; Lawrence C Brody; William D Foulkes; Maurizio Genuardi; Robert M W Hofstra; Magali Olivier; Sharon E Plon; Rolf H Sijmons; Olga Sinilnikova; Amanda B Spurdle
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

6.  Interpreting secondary cardiac disease variants in an exome cohort.

Authors:  David Ng; Jennifer J Johnston; Jamie K Teer; Larry N Singh; Lindsey C Peller; Jamila S Wynter; Katie L Lewis; David N Cooper; Peter D Stenson; James C Mullikin; Leslie G Biesecker
Journal:  Circ Cardiovasc Genet       Date:  2013-07-16

7.  Pretransplant genetic testing of live kidney donors at risk for autosomal dominant polycystic kidney disease.

Authors:  Jon D Blumenfeld
Journal:  Transplantation       Date:  2009-01-15       Impact factor: 4.939

Review 8.  DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.

Authors:  Judy Savige; Elisabet Ars; Richard G H Cotton; David Crockett; Hayat Dagher; Constantinos Deltas; Jie Ding; Frances Flinter; Genevieve Pont-Kingdon; Nizar Smaoui; Roser Torra; Helen Storey
Journal:  Pediatr Nephrol       Date:  2013-05-30       Impact factor: 3.714

9.  High Resolution Melt analysis for mutation screening in PKD1 and PKD2.

Authors:  Stanislas Bataille; Yvon Berland; Michel Fontes; Stéphane Burtey
Journal:  BMC Nephrol       Date:  2011-10-18       Impact factor: 2.388

10.  Characterization of Primary Cilia in Osteoblasts Isolated From Patients With ADPKD and CKD.

Authors:  Renata C Pereira; Berenice Y Gitomer; Michel Chonchol; Peter C Harris; Kathleen J Noche; Isidro B Salusky; Lauren V Albrecht
Journal:  JBMR Plus       Date:  2021-02-23
  10 in total

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