Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

[1] Manolio TA(2009)Finding the missing heritability of complex diseases Nature. 461 747-53

[2] Collins FS(2009)How to use an article about genetic association: C: What are the results and will they help me in caring for my patients? JAMA. 301 304-8

[3] Cox NJ(2006)Mendelian disorders deserve more attention Nat Rev Genet. 7 277-82

[4] Goldstein DB(2001)Dissecting human disease in the postgenomic era Science. 291 1224-9

[5] Hindorff LA(2001)Implications of the Human Genome Project for medical science JAMA. 285 540-4

[6] Hunter DJ(2010)Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy N Engl J Med. 362 1181-91

[7] Attia J(2009)Genetic diagnosis by whole exome capture and massively parallel DNA sequencing Proc Natl Acad Sci U S A. 106 19096-101

[8] Ioannidis JP(2013)Implementing genomic medicine in the clinic: the future is here Genet Med. 15 258-67

[9] Thakkinstian A(2010)Exome sequencing: the sweet spot before whole genomes Hum Mol Genet. 19 R145-51

[10] McEvoy M(2013)Clinical whole-exome sequencing for the diagnosis of mendelian disorders N Engl J Med. 369 1502-11

[1] Manolio TA(2009)Finding the missing heritability of complex diseases Nature. 461 747-53

[2] Collins FS(2009)How to use an article about genetic association: C: What are the results and will they help me in caring for my patients? JAMA. 301 304-8

[3] Cox NJ(2006)Mendelian disorders deserve more attention Nat Rev Genet. 7 277-82

[4] Goldstein DB(2001)Dissecting human disease in the postgenomic era Science. 291 1224-9

[5] Hindorff LA(2001)Implications of the Human Genome Project for medical science JAMA. 285 540-4

[6] Hunter DJ(2010)Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy N Engl J Med. 362 1181-91

[7] Attia J(2009)Genetic diagnosis by whole exome capture and massively parallel DNA sequencing Proc Natl Acad Sci U S A. 106 19096-101

[8] Ioannidis JP(2013)Implementing genomic medicine in the clinic: the future is here Genet Med. 15 258-67

[9] Thakkinstian A(2010)Exome sequencing: the sweet spot before whole genomes Hum Mol Genet. 19 R145-51

[10] McEvoy M(2013)Clinical whole-exome sequencing for the diagnosis of mendelian disorders N Engl J Med. 369 1502-11