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Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

Proceedings of the National Academy of Sciences of the United States of America, 18 March 2014, Vol.111(11), pp.4197-202 [Peer Reviewed Journal]

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A public resource facilitating clinical use of genomes.

Proceedings of the National Academy of Sciences of the United States of America, July 24, 2012, Vol.109(30), pp.11920-11927 [Peer Reviewed Journal]

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Using Whole Exome Sequencing to Walk From Clinical Practice to Research and Back Again
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Using Whole Exome Sequencing to Walk From Clinical Practice to Research and Back Again

Circulation, 2013 Mar 5, Vol.127(9), pp.968-970 [Peer Reviewed Journal]

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Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing
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Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing

Proceedings Of The National Academy Of Sciences Of The United States Of Ame, 2012 Mar 6, Vol.109(10), pp.3879-3884 [Peer Reviewed Journal]

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Heredity-The Very Long View

Science, Feb 8, 2013, Vol.339(6120), pp.649-649 [Peer Reviewed Journal]

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Does a Gene's Location in the Nucleus Matter?

Science (Washington), Nov 25, 2011, Vol.334(6059), pp.1050-1051 [Peer Reviewed Journal]

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Genetic, anatomic, and clinical determinants of human serum sterol and vitamin D levels.

Proceedings of the National Academy of Sciences of the United States of America, September 23, 2014, Vol.111(38), pp.E4006-E4014 [Peer Reviewed Journal]

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Genes for High Altitudes

Science (Washington), Jul 2, 2010, Vol.328(5987), pp.40-41 [Peer Reviewed Journal]

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Genetics: No more addictive personality

Nature, Jun 24, 2015, Vol.522(7557), pp.S48-S49 [Peer Reviewed Journal]

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Severe infectious diseases of childhood as monogenic inborn errors of immunity.

Proceedings of the National Academy of Sciences of the United States of America, December 22, 2015, Vol.112(51), pp.E7128-E7137 [Peer Reviewed Journal]

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