Concepedia

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia

Ranjith Ramasamy, Emre Bakırcıoğlu, Cenk Cengiz, Ender Karaca, Jason M. Scovell, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Matthew N. Bainbridge, Yao Yu, Chad D. Huff,

Fertility and Sterility · 2015 · 68 citations · 15 references

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15

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia et al. · JAMA · 2014 · 1.4K citations

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Regulation of Clock and NPAS2 DNA Binding by the Redox State of NAD Cofactors

Jared Rutter, Martin Reick, Leeju C. Wu et al. · Science · 2001 · 1.1K citations

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Caroline F. Wright, Tomas Fitzgerald, Wendy D. Jones et al. · The Lancet · 2014 · 792 citations · Full text

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