Human Genome Sequencing in Health and Disease
Top Cited Papers
- 18 February 2012
- journal article
- review article
- Published by Annual Reviews in Annual Review of Medicine
- Vol. 63 (1), 35-61
- https://doi.org/10.1146/annurev-med-051010-162644
Abstract
Following the “finished,” euchromatic, haploid human reference genome sequence, the rapid development of novel, faster, and cheaper sequencing technologies is making possible the era of personalize...Keywords
This publication has 101 references indexed in Scilit:
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- Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia SyndromeAmerican Journal of Human Genetics, 2011
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- Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis ImperfectaAmerican Journal of Human Genetics, 2011
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- Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner SyndromeAmerican Journal of Human Genetics, 2010
- Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault SyndromeAmerican Journal of Human Genetics, 2010
- Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82American Journal of Human Genetics, 2010