Concepedia

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi, Hao Hu, Masoud Garshasbi, Tomasz Żemojtel, Seyedeh Sedigheh Abedini, Wei Chen, Masoumeh Hosseini, Farkhondeh Behjati, Stefan A. Haas, Payman Jamali,

Nature · 2011 · 987 citations · 36 references

Concepts

Life SciencesGeneticsMolecular GeneticsGenomicsMedical GeneticsNeurogeneticsCognitive Disorder GeneticsCognitive DisordersGenetic DisordersGenome SequencingNeurodevelopmental GeneticsNeurogenetic DisordersAutosomal Recessive Neurodegenerative DisordersDeep Sequencing AnalysisIntellectual Disability Copy Number Variants

References

36

Exome sequencing identifies the cause of a mendelian disorder

Sarah Ng, Kati J. Buckingham, Choli Lee et al. · Nature Genetics · 2009 · 1.9K citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Sarah Ng, Abigail W. Bigham, Kati J. Buckingham et al. · Nature Genetics · 2010 · 1.4K citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

A de novo paradigm for mental retardation

Lisenka E.L.M. Vissers, Joep de Ligt, Christian Gilissen et al. · Nature Genetics · 2010 · 854 citations

Social Sciences, Psychiatry, Psychology +12

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

James R. Lupski, Jeffrey G. Reid, Claudia Gonzaga‐Jauregui et al. · New England Journal of Medicine · 2010 · 764 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Patrick Tarpey, Raffaella Smith, Erin Pleasance et al. · Nature Genetics · 2009 · 617 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12