Literature DB >> 20395971

Mendelian disorders and multifactorial traits: the big divide or one for all?

Stylianos E Antonarakis1, Aravinda Chakravarti, Jonathan C Cohen, John Hardy.   

Abstract

For the past century, Mendelian and multifactorial traits have existed at opposite ends of the disease spectrum in humans. Furthermore, the recent emphasis on genome-wide association studies for uncovering variants that underlie common diseases has risked deepening the divide - or has it? Four experienced human geneticists express their views on the changing landscape of human disease studies and the impact of new technologies and study designs on the age-old aim of connecting a genomic variant with its phenotypic consequences.

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Year:  2010        PMID: 20395971     DOI: 10.1038/nrg2793

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  21 in total

Review 1.  The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases.

Authors:  Andrew Singleton; Amanda Myers; John Hardy
Journal:  Hum Mol Genet       Date:  2004-02-19       Impact factor: 6.150

2.  A haplotype map of the human genome.

Authors: 
Journal:  Nature       Date:  2005-10-27       Impact factor: 49.962

3.  Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

Authors:  R K Saiki; S Scharf; F Faloona; K B Mullis; G T Horn; H A Erlich; N Arnheim
Journal:  Science       Date:  1985-12-20       Impact factor: 47.728

4.  A polymorphic DNA marker genetically linked to Huntington's disease.

Authors:  J F Gusella; N S Wexler; P M Conneally; S L Naylor; M A Anderson; R E Tanzi; P C Watkins; K Ottina; M R Wallace; A Y Sakaguchi
Journal:  Nature       Date:  1983 Nov 17-23       Impact factor: 49.962

Review 5.  Genetic mapping in human disease.

Authors:  David Altshuler; Mark J Daly; Eric S Lander
Journal:  Science       Date:  2008-11-07       Impact factor: 47.728

Review 6.  The complement cascade: Yin-Yang in neuroinflammation--neuro-protection and -degeneration.

Authors:  Jessy John Alexander; Aileen Judith Anderson; Scott Robert Barnum; Beth Stevens; Andrea Joan Tenner
Journal:  J Neurochem       Date:  2008-10-24       Impact factor: 5.372

Review 7.  Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

Authors:  D Botstein; R L White; M Skolnick; R W Davis
Journal:  Am J Hum Genet       Date:  1980-05       Impact factor: 11.025

Review 8.  Application of genome-wide single nucleotide polymorphism typing: simple association and beyond.

Authors:  J Raphael Gibbs; Andrew Singleton
Journal:  PLoS Genet       Date:  2006-10-06       Impact factor: 5.917

9.  Targeted capture and massively parallel sequencing of 12 human exomes.

Authors:  Sarah B Ng; Emily H Turner; Peggy D Robertson; Steven D Flygare; Abigail W Bigham; Choli Lee; Tristan Shaffer; Michelle Wong; Arindam Bhattacharjee; Evan E Eichler; Michael Bamshad; Deborah A Nickerson; Jay Shendure
Journal:  Nature       Date:  2009-08-16       Impact factor: 49.962

10.  Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

Authors:  Joyce van de Leemput; Jayanth Chandran; Melanie A Knight; Lynne A Holtzclaw; Sonja Scholz; Mark R Cookson; Henry Houlden; Katrina Gwinn-Hardy; Hon-Chung Fung; Xian Lin; Dena Hernandez; Javier Simon-Sanchez; Nick W Wood; Paola Giunti; Ian Rafferty; John Hardy; Elsdon Storey; R J McKinlay Gardner; Susan M Forrest; Elizabeth M C Fisher; James T Russell; Huaibin Cai; Andrew B Singleton
Journal:  PLoS Genet       Date:  2007-05-16       Impact factor: 5.917

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  33 in total

1.  The Hidden Complexity of Mendelian Traits across Natural Yeast Populations.

Authors:  Jing Hou; Anastasie Sigwalt; Téo Fournier; David Pflieger; Jackson Peter; Jacky de Montigny; Maitreya J Dunham; Joseph Schacherer
Journal:  Cell Rep       Date:  2016-07-07       Impact factor: 9.423

Review 2.  Idiopathic Pulmonary Fibrosis: A Genetic Disease That Involves Mucociliary Dysfunction of the Peripheral Airways.

Authors:  Christopher M Evans; Tasha E Fingerlin; Marvin I Schwarz; David Lynch; Jonathan Kurche; Laura Warg; Ivana V Yang; David A Schwartz
Journal:  Physiol Rev       Date:  2016-10       Impact factor: 37.312

3.  Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.

Authors:  Tamar Harel; Jennifer E Posey; Brett H Graham; Magdalena Walkiewicz; Yaping Yang; Seema R Lalani; John W Belmont
Journal:  Am J Med Genet A       Date:  2015-07-21       Impact factor: 2.802

Review 4.  Missing heritability of complex diseases: Enlightenment by genetic variants from intermediate phenotypes.

Authors:  Adrián Blanco-Gómez; Sonia Castillo-Lluva; María Del Mar Sáez-Freire; Lourdes Hontecillas-Prieto; Jian Hua Mao; Andrés Castellanos-Martín; Jesus Pérez-Losada
Journal:  Bioessays       Date:  2016-05-31       Impact factor: 4.345

Review 5.  Strategic approaches to unraveling genetic causes of cardiovascular diseases.

Authors:  A J Marian; John Belmont
Journal:  Circ Res       Date:  2011-05-13       Impact factor: 17.367

Review 6.  Cerebral small vessel disease: insights and opportunities from mouse models of collagen IV-related small vessel disease and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Authors:  Anne Joutel; Frank M Faraci
Journal:  Stroke       Date:  2014-02-06       Impact factor: 7.914

7.  Searching for missing heritability: designing rare variant association studies.

Authors:  Or Zuk; Stephen F Schaffner; Kaitlin Samocha; Ron Do; Eliana Hechter; Sekar Kathiresan; Mark J Daly; Benjamin M Neale; Shamil R Sunyaev; Eric S Lander
Journal:  Proc Natl Acad Sci U S A       Date:  2014-01-17       Impact factor: 11.205

Review 8.  Discovery of mutations for Mendelian disorders.

Authors:  Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2016-04-11       Impact factor: 4.132

Review 9.  Genetic backgrounds and hidden trait complexity in natural populations.

Authors:  Téo Fournier; Joseph Schacherer
Journal:  Curr Opin Genet Dev       Date:  2017-09-12       Impact factor: 5.578

Review 10.  Genetic Network Complexity Shapes Background-Dependent Phenotypic Expression.

Authors:  Jing Hou; Jolanda van Leeuwen; Brenda J Andrews; Charles Boone
Journal:  Trends Genet       Date:  2018-06-11       Impact factor: 11.639

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