Literature DB >> 20038494

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics.

Peter D Stenson, Edward V Ball, Katy Howells, Andrew D Phillips, Matthew Mort, David N Cooper.   

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Year:  2009        PMID: 20038494      PMCID: PMC3525207          DOI: 10.1186/1479-7364-4-2-69

Source DB:  PubMed          Journal:  Hum Genomics        ISSN: 1473-9542            Impact factor:   4.639


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  8 in total

1.  A survey of locus-specific database curation. Human Genome Variation Society.

Authors:  Richard G H Cotton; Kate Phillips; Ourania Horaitis
Journal:  J Med Genet       Date:  2007-04       Impact factor: 6.318

2.  PharmGKB: understanding the effects of individual genetic variants.

Authors:  Katrin Sangkuhl; Dorit S Berlin; Russ B Altman; Teri E Klein
Journal:  Drug Metab Rev       Date:  2008       Impact factor: 4.518

3.  The Catalogue of Somatic Mutations in Cancer (COSMIC).

Authors:  S A Forbes; G Bhamra; S Bamford; E Dawson; C Kok; J Clements; A Menzies; J W Teague; P A Futreal; M R Stratton
Journal:  Curr Protoc Hum Genet       Date:  2008-04

4.  Planning the human variome project: the Spain report.

Authors:  Jim Kaput; Richard G H Cotton; Lauren Hardman; Michael Watson; Aida I Al Aqeel; Jumana Y Al-Aama; Fahd Al-Mulla; Santos Alonso; Stefan Aretz; Arleen D Auerbach; Bharati Bapat; Inge T Bernstein; Jong Bhak; Stacey L Bleoo; Helmut Blöcker; Steven E Brenner; John Burn; Mariona Bustamante; Rita Calzone; Anne Cambon-Thomsen; Michele Cargill; Paola Carrera; Lawrence Cavedon; Yoon Shin Cho; Yeun-Jun Chung; Mireille Claustres; Garry Cutting; Raymond Dalgleish; Johan T den Dunnen; Carlos Díaz; Steven Dobrowolski; M Rosário N dos Santos; Rosemary Ekong; Simon B Flanagan; Paul Flicek; Yoichi Furukawa; Maurizio Genuardi; Ho Ghang; Maria V Golubenko; Marc S Greenblatt; Ada Hamosh; John M Hancock; Ross Hardison; Terence M Harrison; Robert Hoffmann; Rania Horaitis; Heather J Howard; Carol Isaacson Barash; Neskuts Izagirre; Jongsun Jung; Toshio Kojima; Sandrine Laradi; Yeon-Su Lee; Jong-Young Lee; Vera L Gil-da-Silva-Lopes; Finlay A Macrae; Donna Maglott; Makia J Marafie; Steven G E Marsh; Yoichi Matsubara; Ludwine M Messiaen; Gabriela Möslein; Mihai G Netea; Melissa L Norton; Peter J Oefner; William S Oetting; James C O'Leary; Ana Maria Oller de Ramirez; Mark H Paalman; Jillian Parboosingh; George P Patrinos; Giuditta Perozzi; Ian R Phillips; Sue Povey; Suyash Prasad; Ming Qi; David J Quin; Rajkumar S Ramesar; C Sue Richards; Judith Savige; Dagmar G Scheible; Rodney J Scott; Daniela Seminara; Elizabeth A Shephard; Rolf H Sijmons; Timothy D Smith; María-Jesús Sobrido; Toshihiro Tanaka; Sean V Tavtigian; Graham R Taylor; Jon Teague; Thoralf Töpel; Mollie Ullman-Cullere; Joji Utsunomiya; Henk J van Kranen; Mauno Vihinen; Elizabeth Webb; Thomas K Weber; Meredith Yeager; Young I Yeom; Seon-Hee Yim; Hyang-Sook Yoo
Journal:  Hum Mutat       Date:  2009-04       Impact factor: 4.878

5.  TRANSFAC and its module TRANSCompel: transcriptional gene regulation in eukaryotes.

Authors:  V Matys; O V Kel-Margoulis; E Fricke; I Liebich; S Land; A Barre-Dirrie; I Reuter; D Chekmenev; M Krull; K Hornischer; N Voss; P Stegmaier; B Lewicki-Potapov; H Saxel; A E Kel; E Wingender
Journal:  Nucleic Acids Res       Date:  2006-01-01       Impact factor: 16.971

6.  McKusick's Online Mendelian Inheritance in Man (OMIM).

Authors:  Joanna Amberger; Carol A Bocchini; Alan F Scott; Ada Hamosh
Journal:  Nucleic Acids Res       Date:  2008-10-08       Impact factor: 16.971

7.  Collection of variation causing disease--the Human Variome Project.

Authors:  Richard G H Cotton
Journal:  Hum Genomics       Date:  2009-07       Impact factor: 4.639

8.  The Human Gene Mutation Database: 2008 update.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Katy Howells; Andrew D Phillips; Nick St Thomas; David N Cooper
Journal:  Genome Med       Date:  2009-01-22       Impact factor: 11.117

  8 in total
  76 in total

1.  Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility.

Authors:  Christopher A Cassa; Sarah K Savage; Patrick L Taylor; Robert C Green; Amy L McGuire; Kenneth D Mandl
Journal:  Genome Res       Date:  2012-01-06       Impact factor: 9.043

2.  Noninvasive whole-genome sequencing of a human fetus.

Authors:  Jacob O Kitzman; Matthew W Snyder; Mario Ventura; Alexandra P Lewis; Ruolan Qiu; Lavone E Simmons; Hilary S Gammill; Craig E Rubens; Donna A Santillan; Jeffrey C Murray; Holly K Tabor; Michael J Bamshad; Evan E Eichler; Jay Shendure
Journal:  Sci Transl Med       Date:  2012-06-06       Impact factor: 17.956

3.  Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

Authors:  Sarah E Calvo; Alison G Compton; Steven G Hershman; Sze Chern Lim; Daniel S Lieber; Elena J Tucker; Adrienne Laskowski; Caterina Garone; Shangtao Liu; David B Jaffe; John Christodoulou; Janice M Fletcher; Damien L Bruno; Jack Goldblatt; Salvatore Dimauro; David R Thorburn; Vamsi K Mootha
Journal:  Sci Transl Med       Date:  2012-01-25       Impact factor: 17.956

Review 4.  Genome analyses substantiate male mutation bias in many species.

Authors:  Melissa A Wilson Sayres; Kateryna D Makova
Journal:  Bioessays       Date:  2011-10-18       Impact factor: 4.345

5.  An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.

Authors:  Cristina Dias; Murat Sincan; Praveen F Cherukuri; Rosemarie Rupps; Yan Huang; Hannah Briemberg; Kathryn Selby; James C Mullikin; Thomas C Markello; David R Adams; William A Gahl; Cornelius F Boerkoel
Journal:  Hum Mutat       Date:  2012-02-28       Impact factor: 4.878

6.  Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.

Authors:  Darrell L Dinwiddie; Julia M Bracken; Julie A Bass; Kathy Christenson; Sarah E Soden; Carol J Saunders; Neil A Miller; Vivekanand Singh; David L Zwick; Charles C Roberts; Jignesh Dalal; Stephen F Kingsmore
Journal:  Genomics       Date:  2013-08-31       Impact factor: 5.736

7.  The case for locus-specific databases.

Authors:  Mark E Samuels; Guy A Rouleau
Journal:  Nat Rev Genet       Date:  2011-05-04       Impact factor: 53.242

Review 8.  Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data.

Authors:  Gregory M Cooper; Jay Shendure
Journal:  Nat Rev Genet       Date:  2011-08-18       Impact factor: 53.242

9.  Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene.

Authors:  Vykuntaraju K Gowda; Varunvenkat M Srinivasan; Maya Bhat; Asha Benakappa
Journal:  Indian J Pediatr       Date:  2018-07-14       Impact factor: 1.967

10.  Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

Authors:  Carol Jean Saunders; Neil Andrew Miller; Sarah Elizabeth Soden; Darrell Lee Dinwiddie; Aaron Noll; Noor Abu Alnadi; Nevene Andraws; Melanie LeAnn Patterson; Lisa Ann Krivohlavek; Joel Fellis; Sean Humphray; Peter Saffrey; Zoya Kingsbury; Jacqueline Claire Weir; Jason Betley; Russell James Grocock; Elliott Harrison Margulies; Emily Gwendolyn Farrow; Michael Artman; Nicole Pauline Safina; Joshua Erin Petrikin; Kevin Peter Hall; Stephen Francis Kingsmore
Journal:  Sci Transl Med       Date:  2012-10-03       Impact factor: 17.956

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