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A method to predict the impact of regulatory variants from DNA sequence

Nature genetics, 2015-08, Vol.47 (8), p.955-961

2015

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Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

American journal of human genetics, 2016-01, Vol.98 (1), p.58-74

2016

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Neuroinflammation represents a common theme amongst genetic and environmental risk factors for Alzheimer and Parkinson diseases

Journal of neuroinflammation, 2022-09, Vol.19 (1), p.223-20, Article 223

2022

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Targeted inhibition of tumor-specific glutaminase diminishes cell-autonomous tumorigenesis

The Journal of clinical investigation, 2015-06, Vol.125 (6), p.2293-2306

2015

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Genomics of long-range regulatory elements

Annual review of genomics and human genetics, 2010-01, Vol.11 (1), p.1-23

2010

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Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability

American journal of human genetics, 2015-04, Vol.96 (4), p.581-596

2015

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Evaluating the mouse neural precursor line, SN4741, as a suitable proxy for midbrain dopaminergic neurons

BMC genomics, 2023-06, Vol.24 (1), p.306-306, Article 306

2023

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Conservation of RET Regulatory Function from Human to Zebrafish Without Sequence Similarity

Science (American Association for the Advancement of Science), 2006-04, Vol.312 (5771), p.276-279

2006

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Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

American journal of human genetics, 2010-07, Vol.87 (1), p.60-74

2010

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Sox10 + Cells Contribute to Vascular Development in Multiple Organs-Brief Report

Arteriosclerosis, thrombosis, and vascular biology, 2017-09, Vol.37 (9), p.1727

2017

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Ring Chromosomes in Hematological Malignancies Are Associated with TP53 Gene Mutations and Characteristic Copy Number Variants

Cancers, 2023-11, Vol.15 (22), p.5439

2023

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Evaluating the biological relevance of putative enhancers using Tol2 transposon-mediated transgenesis in zebrafish

Nature protocols, 2006-10, Vol.1 (3), p.1297-1305

2006

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A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk

Nature, 2005-04, Vol.434 (7035), p.857-863

2005

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A functional schizophrenia-associated genetic variant near the TSNARE1 and ADGRB1 genes

HGG advances, 2024-07, Vol.5 (3), p.100303, Article 100303

2024

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Development and optimization of an in vivo electrocardiogram recording method and analysis program for adult zebrafish

Disease models & mechanisms, 2021-08, Vol.14 (8)

2021

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Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio

G3 : genes - genomes - genetics, 2018-07, Vol.8 (7), p.2215-2223

2018

Volltextzugriff (PDF)

Rbm24a and Rbm24b are required for normal somitogenesis

PloS one, 2014-08, Vol.9 (8), p.e105460-e105460

2014

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Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish

PLoS genetics, 2008-09, Vol.4 (9), p.e1000174-e1000174

2008

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Screening non-MAPT genes of the Chr17q21 H1 haplotype in Parkinson's disease

Parkinsonism & related disorders, 2020-09, Vol.78, p.138-144

2020

Volltextzugriff (PDF)

Steroid hormone modulation of RET through two estrogen responsive enhancers in breast cancer

Human molecular genetics, 2011-10, Vol.20 (19), p.3746-3756

2011

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Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b

Genome Research, 2008-02, Vol.18 (2), p.252-260

2008

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Phenotype Variation in Two-Locus Mouse Models of Hirschsprung Disease: Tissue-Specific Interaction between Ret and Ednrb

Proceedings of the National Academy of Sciences - PNAS, 2003-02, Vol.100 (4), p.1826-1831

2003

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kmer-SVM: a web server for identifying predictive regulatory sequence features in genomic data sets

Nucleic acids research, 2013-07, Vol.41 (Web Server issue), p.W544

2013

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Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling

G3 : genes - genomes - genetics, 2015-01, Vol.5 (1), p.61-72

2015

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Peroxisome-proliferator-activated receptor-binding protein (PBP) is essential for the growth of active Notch4-immortalized mammary epithelial cells by activating SOX10 expression

Biochemical journal, 2009-12, Vol.425 (2), p.435-444

2009

Volltextzugriff (PDF)

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A method to predict the impact of regulatory variants from DNA sequence

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

Neuroinflammation represents a common theme amongst genetic and environmental risk factors for Alzheimer and Parkinson diseases

Targeted inhibition of tumor-specific glutaminase diminishes cell-autonomous tumorigenesis

Genomics of long-range regulatory elements

Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability

Evaluating the mouse neural precursor line, SN4741, as a suitable proxy for midbrain dopaminergic neurons

Conservation of RET Regulatory Function from Human to Zebrafish Without Sequence Similarity

Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

Sox10 + Cells Contribute to Vascular Development in Multiple Organs-Brief Report

Ring Chromosomes in Hematological Malignancies Are Associated with TP53 Gene Mutations and Characteristic Copy Number Variants

Evaluating the biological relevance of putative enhancers using Tol2 transposon-mediated transgenesis in zebrafish

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk

A functional schizophrenia-associated genetic variant near the TSNARE1 and ADGRB1 genes

Development and optimization of an in vivo electrocardiogram recording method and analysis program for adult zebrafish

Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio

Rbm24a and Rbm24b are required for normal somitogenesis

Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish

Screening non-MAPT genes of the Chr17q21 H1 haplotype in Parkinson's disease

Steroid hormone modulation of RET through two estrogen responsive enhancers in breast cancer

Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b

Phenotype Variation in Two-Locus Mouse Models of Hirschsprung Disease: Tissue-Specific Interaction between Ret and Ednrb

kmer-SVM: a web server for identifying predictive regulatory sequence features in genomic data sets

Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling

Peroxisome-proliferator-activated receptor-binding protein (PBP) is essential for the growth of active Notch4-immortalized mammary epithelial cells by activating SOX10 expression

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