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Literature DB >> 22337032

Personalized medicine: Bring clinical standards to human-genetics research.

Gholson J Lyon¹.

Abstract

Entities: Species

Mesh：

Year: 2012 PMID： 22337032 DOI： 10.1038/482300a

Source DB: PubMed Journal: Nature ISSN： 0028-0836 Impact factor: 49.962

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3 in total

1. 2001 William Allan Award Address. From Down syndrome to the "human" in "human genetics".

Authors: Charles J Epstein
Journal: Am J Hum Genet Date: 2001-12-26 Impact factor: 11.025

2. Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

Authors: Alan F Rope; Kai Wang; Rune Evjenth; Jinchuan Xing; Jennifer J Johnston; Jeffrey J Swensen; W Evan Johnson; Barry Moore; Chad D Huff; Lynne M Bird; John C Carey; John M Opitz; Cathy A Stevens; Tao Jiang; Christa Schank; Heidi Deborah Fain; Reid Robison; Brian Dalley; Steven Chin; Sarah T South; Theodore J Pysher; Lynn B Jorde; Hakon Hakonarson; Johan R Lillehaug; Leslie G Biesecker; Mark Yandell; Thomas Arnesen; Gholson J Lyon
Journal: Am J Hum Genet Date: 2011-06-23 Impact factor: 11.025

3. Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.

Authors: Gholson J Lyon; Tao Jiang; Richard Van Wijk; Wei Wang; Paul Mark Bodily; Jinchuan Xing; Lifeng Tian; Reid J Robison; Mark Clement; Yang Lin; Peng Zhang; Ying Liu; Barry Moore; Joseph T Glessner; Josephine Elia; Fred Reimherr; Wouter W van Solinge; Mark Yandell; Hakon Hakonarson; Jun Wang; William Evan Johnson; Zhi Wei; Kai Wang
Journal: Discov Med Date: 2011-07 Impact factor: 2.970

3 in total

11 in total

1. Genetics research: Clinical standards not practical in the lab.

Authors: Klaus Lindpaintner
Journal: Nature Date: 2012-03-07 Impact factor: 49.962

Review 2. The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.

Authors: Tony Shen; Ariel Lee; Carol Shen; C Jimmy Lin
Journal: Genet Res (Camb) Date: 2015-09-14 Impact factor: 1.588

Review 3. Whole-genome and whole-exome sequencing in neurological diseases.

Authors: Jia-Nee Foo; Jian-Jun Liu; Eng-King Tan
Journal: Nat Rev Neurol Date: 2012-07-31 Impact factor: 42.937

Review 4. Genomic medicine for kidney disease.

Authors: Emily E Groopman; Hila Milo Rasouly; Ali G Gharavi
Journal: Nat Rev Nephrol Date: 2018-01-08 Impact factor: 28.314

Personalized medicine: Bring clinical standards to human-genetics research.

1. 2001 William Allan Award Address. From Down syndrome to the "human" in "human genetics".

2. Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

3. Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.

1. Genetics research: Clinical standards not practical in the lab.

Review 2. The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.

Review 3. Whole-genome and whole-exome sequencing in neurological diseases.

Review 4. Genomic medicine for kidney disease.

Review 5. Patient heal thyself: modeling and treating neurological disorders using patient-derived stem cells.

Review 6. Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress.

7. Navigating legal constraints in clinical data warehousing: a case study in personalized medicine.

8. Reducing INDEL calling errors in whole genome and exome sequencing data.

9. Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Review 10. Practical, ethical and regulatory considerations for the evolving medical and research genomics landscape.