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American journal of human genetics

American journal of human genetics
紙記録メディア雑誌
University of Chicago Press<Z53-C10>
国立国会図書館全国の図書館
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POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
デジタル記事
2023-05The American Journal of Human Genetics110 5p.809-825
全国の図書館
  • 掲載誌（ISSN）00029297

A novel CCDC91 isoform associated with ossification of the posterior longitudinal ligament of the spine works as a non-coding RNA to regulate osteogenic genes

A novel CCDC91 isoform associated with ossification of the posterior longitudinal ligament of the spine works as a non-coding RNA to regulate osteogenic genes
デジタル記事
2023-04The American Journal of Human Genetics110 4p.638-647
全国の図書館
  • 掲載誌（ISSN）00029297

Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics

Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics
デジタル記事
2022-12The American Journal of Human Genetics109 12p.2185-2195
全国の図書館
  • 掲載誌（ISSN）00029297

RILPL1-related OPDM is absent in a Japanese cohort

RILPL1-related OPDM is absent in a Japanese cohort
デジタル記事
2022-11The American Journal of Human Genetics109 11p.2088-2089
インターネットで読める全国の図書館
  • 掲載誌（ISSN）00029297

Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
デジタル記事
2022-10The American Journal of Human Genetics109 10p.1789-1813
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  • 掲載誌（ISSN）00029297

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
デジタル記事
2022-09The American Journal of Human Genetics109 9p.1713-1723
インターネットで読める全国の図書館
  • 掲載誌（ISSN）00029297

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
デジタル記事
2022-08The American Journal of Human Genetics109 8p.1366-1387
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  • 掲載誌（ISSN）00029297

A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2

A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2
デジタル記事
2022-07The American Journal of Human Genetics109 7p.1208-1216
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  • 掲載誌（ISSN）00029297

Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration

Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration
デジタル記事
2022-07The American Journal of Human Genetics109 7p.1338-1340
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  • 掲載誌（ISSN）00029297

Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites

Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites
デジタル記事
2022-06The American Journal of Human Genetics109 6p.1038-1054
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  • 掲載誌（ISSN）00029297

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
デジタル記事
2022-04The American Journal of Human Genetics109 4p.587-600
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  • 掲載誌（ISSN）00029297

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
デジタル記事
2022-03The American Journal of Human Genetics109 3p.457-470
全国の図書館
  • 掲載誌（ISSN）00029297

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
デジタル記事
2022-03The American Journal of Human Genetics109 3p.542-546
全国の図書館
  • 掲載誌（ISSN）00029297

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4
デジタル記事
2022-03The American Journal of Human Genetics109 3p.533-541
全国の図書館
  • 掲載誌（ISSN）00029297

A transchromosomic rat model with human chromosome 21 shows robust Down syndrome features

A transchromosomic rat model with human chromosome 21 shows robust Down syndrome features
紙記事
Kazuki, Yasuhiro, Feng J. Gao,, Yamakawa, Miho, Hirabayashi, Masumi, Kazuki, Kanako, Kajitani, Naoyo, Miyagawa-Tomita, Sachiko, Abe, Satoshi, Sanbo, Makoto, Hara, Hiromasa, Kuniishi, Hiroshi, Ichisaka, Satoshi, Hata, Yoshio, Koshima, Moeka, Takayama, Haruka, Takehara, Shoko, Nakayama, Yuji, Hiratsuka, Masaharu, Iida, Yuichi, Matsukura, Satoko, Roger H. Reeves,American Society of Human Genetics2022-02-03The American Journal of Human Genetics109 2p.328-344
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MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
デジタル記事
2022-02The American Journal of Human Genetics109 2p.210-222
全国の図書館
  • 掲載誌（ISSN）00029297

Redefining tissue specificity of genetic regulation of gene expression in the presence of allelic heterogeneity

Redefining tissue specificity of genetic regulation of gene expression in the presence of allelic heterogeneity
デジタル記事
2022-02The American Journal of Human Genetics109 2p.223-239
全国の図書館
  • 掲載誌（ISSN）00029297

A transchromosomic rat model with human chromosome 21 shows robust Down syndrome features

A transchromosomic rat model with human chromosome 21 shows robust Down syndrome features
デジタル記事
2022-02The American Journal of Human Genetics109 2p.328-344
全国の図書館
  • 掲載誌（ISSN）00029297

Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort

Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort
デジタル記事
2022-02The American Journal of Human Genetics109 2p.373-
全国の図書館
  • 掲載誌（ISSN）00029297