1. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.

    Humangenetik 134(6):671 (2015) PMID 25893792 PMCID PMC4426057

    Charcot-Marie-Tooth disease is a heterogeneous group of inherited distal symmetric polyneuropathies associated with mutations in genes encoding components essential for normal functioning of the Schwann cell and axon. TRIM2, encoding a ligase that ubiquitinates the neurofilament light chain, was...
  2. Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease.

    Nature Genetics 47(6):640 (2015) PMID 25915599 PMCID PMC4470468

    A typical human exome harbors dozens of loss-of-function (LOF) variants, which can lower disease risk factor levels and affect drug efficacy. We hypothesized that LOF variants are enriched in genes influencing risk factor levels and the onset of common chronic diseases, such as cardiovascular di...
  3. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.

    Journal of Clinical Endocrinology & Metabolism 100(5):E808 (2015) PMID 25774885 PMCID PMC4422898

    Hypergonadotropic hypogonadism presents in females with delayed or arrested puberty, primary or secondary amenorrhea due to gonadal dysfunction, and is further characterized by elevated gonadotropins and low sex steroids. Chromosomal aberrations and various specific gene defects can lead to hype...
  4. Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease.

    Circulation: Cardiovascular Genetics 8(2):351 (2015) PMID 25575548 PMCID PMC4406800

    Histidine is a semiessential amino acid with antioxidant and anti-inflammatory properties. Few data are available on the associations between genetic variants, histidine levels, and incident coronary heart disease (CHD) in a population-based sample. By conducting whole exome sequencing on 1152 A...
  5. FBN1 contributing to familial congenital diaphragmatic hernia.

    American Journal of Medical Genetics Part A 167A(4):831 (2015) PMID 25736269

    Congenital diaphragmatic hernia (CDH) is a relatively common, life--threatening birth defect. We present a family with recurrent CDH--paraesophageal and central--for whom exome sequencing (ES) revealed a frameshift mutation (c.4969_4970insA, p.Ile1657Asnfs*30) in the fibrillin 1 gene (FBN1) that...
  6. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.

    JAMA Ophthalmology 133(2):133 (2015) PMID 25356532 PMCID PMC4351871

    The families evaluated in this study represent the second report of cone-rod dystrophy (CRD) cases caused by mutations in RAB28, a recently discovered gene associated with CRD. To determine the disease-causing gene in 2 families of Spanish descent presenting with CRD who do not have ABCA4 mutati...
  7. New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy.

    JAMA Ophthalmology 133(2):133 (2015) PMID 25356532 PMCID PMC4351871

    The families evaluated in this study represent the second report of cone-rod dystrophy (CRD) cases caused by mutations in RAB28, a recently discovered gene associated with CRD. To determine the disease-causing gene in 2 families of Spanish descent presenting with CRD who do not have ABCA4 mutati...
  8. Tissue-specific transcriptome sequencing analysis expands the non-human primate reference transcriptome resource (NHPRTR).

    Nucleic Acids Research 43(Database issue):D737 (2015) PMID 25392405

    The non-human primate reference transcriptome resource (NHPRTR, available online at http://nhprtr.org/) aims to generate comprehensive RNA-seq data from a wide variety of non-human primates (NHPs), from lemurs to hominids. In the 2012 Phase I of the NHPRTR project, 19 billion fragments or 3.8 te...
    PDF not found
  9. Tissue-specific transcriptome sequencing analysis expands the non-human primate reference transcriptome resource (NHPRTR).

    Nucleic Acids Research 43(Database issue):D737 (2015) PMID 25392405

    The non-human primate reference transcriptome resource (NHPRTR, available online at http://nhprtr.org/) aims to generate comprehensive RNA-seq data from a wide variety of non-human primates (NHPs), from lemurs to hominids. In the 2012 Phase I of the NHPRTR project, 19 billion fragments or 3.8 te...
    PDF not found
  10. Tissue-specific transcriptome sequencing analysis expands the non-human primate reference transcriptome resource (NHPRTR).

    Nucleic Acids Research 43(Database issue):D737 (2015) PMID 25392405

    The non-human primate reference transcriptome resource (NHPRTR, available online at http://nhprtr.org/) aims to generate comprehensive RNA-seq data from a wide variety of non-human primates (NHPs), from lemurs to hominids. In the 2012 Phase I of the NHPRTR project, 19 billion fragments or 3.8 te...
    PDF not found
  11. Tissue-specific transcriptome sequencing analysis expands the non-human primate reference transcriptome resource (NHPRTR).

    Nucleic Acids Research 43(Database issue):D737 (2015) PMID 25392405

    The non-human primate reference transcriptome resource (NHPRTR, available online at http://nhprtr.org/) aims to generate comprehensive RNA-seq data from a wide variety of non-human primates (NHPs), from lemurs to hominids. In the 2012 Phase I of the NHPRTR project, 19 billion fragments or 3.8 te...
    PDF not found
  12. Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

    PLoS ONE 10(3):e0121644 (2015) PMID 25807536 PMCID PMC4373932

    Whole genome analysis in large samples from a single population is needed to provide adequate power to assess relative strengths of natural selection across different functional components of the genome. In this study, we analyzed next-generation sequencing data from 962 European Americans, and ...
  13. Extreme Sensory Complexity Encoded in the 10-Megabase Draft Genome Sequence of the Chromatically Acclimating Cyanobacterium Tolypothrix sp. PCC 7601.

    Genome Announcements 3(3) (2015) PMID 25953173 PMCID PMC4424289

    Tolypothrix sp. PCC 7601 is a freshwater filamentous cyanobacterium with complex responses to environmental conditions. Here, we present its 9.96-Mbp draft genome sequence, containing 10,065 putative protein-coding sequences, including 305 predicted two-component system proteins and 27 putative ...
  14. The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes.

    BMC Genomics 16(1):143 (2015) PMID 25765891 PMCID PMC4352271

    Identifying insertion/deletion polymorphisms (INDELs) with high confidence has been intrinsically challenging in short-read sequencing data. Here we report our approach for improving INDEL calling accuracy by using a machine learning algorithm to combine call sets generated with three independen...
  15. Tissue-specific transcriptome sequencing analysis expands the non-human primate reference transcriptome resource (NHPRTR).

    Nucleic Acids Research 43(Database issue):D737 (2015) PMID 25392405 PMCID PMC4383927

    The non-human primate reference transcriptome resource (NHPRTR, available online at http://nhprtr.org/) aims to generate comprehensive RNA-seq data from a wide variety of non-human primates (NHPs), from lemurs to hominids. In the 2012 Phase I of the NHPRTR project, 19 billion fragments or 3.8 te...
  16. Inactivating mutations in NPC1L1 and protection from coronary heart disease.

    New England Journal of Medicine 371(22):2072 (2014) PMID 25390462

    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug ...
  17. Inactivating mutations in NPC1L1 and protection from coronary heart disease.

    New England Journal of Medicine 371(22):2072 (2014) PMID 25390462

    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug ...
  18. Inactivating mutations in NPC1L1 and protection from coronary heart disease.

    New England Journal of Medicine 371(22):2072 (2014) PMID 25390462

    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug ...
  19. Inactivating mutations in NPC1L1 and protection from coronary heart disease.

    New England Journal of Medicine 371(22):2072 (2014) PMID 25390462 PMCID PMC4335708

    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug ...
  20. Inactivating mutations in NPC1L1 and protection from coronary heart disease.

    New England Journal of Medicine 371(22):2072 (2014) PMID 25390462

    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug ...