Concepedia

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Tomasz Gambin, Iván K. Chinn, Zeynep H. Coban Akdemir, Hans Christian Erichsen, Lisa R. Forbes, Shen Gu, Bo Yuan,

Journal of Allergy and Clinical Immunology · 2016 · 280 citations · 74 references

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74

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Jan P. Schouten · Nucleic Acids Research · 2002 · 2.7K citations · Full text

, , +16

Detection of nonneutral substitution rates on mammalian phylogenies

Katherine S. Pollard, Melissa J. Hubisz, Kate R. Rosenbloom et al. · Genome Research · 2009 · 2.5K 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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