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A network-biology perspective of microRNA function and dysfunction in cancer

Nature reviews. Genetics, 2016-12, Vol.17 (12), p.719

2016

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Splice factor mutations and alternative splicing as drivers of hematopoietic malignancy

Immunological reviews, 2015-01, Vol.263 (1), p.257-278

2015

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HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse

PLoS genetics, 2015-10, Vol.11 (10), p.e1005620-e1005620

2015

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GATA2 is required for lymphatic vessel valve development and maintenance

The Journal of clinical investigation, 2015-08, Vol.125 (8), p.2979-2994

2015

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Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders

Clinical cancer research, 2017-06, Vol.23 (11), p.e23-e31

2017

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Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

Genome Biology, 2023-05, Vol.24 (1), p.118-118, Article 118

2023

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Spliceosome mutations in hematopoietic malignancies

Nature genetics, 2012-01, Vol.44 (1), p.9-10

2012

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A comparative analysis of algorithms for somatic SNV detection in cancer

Bioinformatics, 2013-09, Vol.29 (18), p.2223-2230

2013

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Aire regulates the transfer of antigen from mTECs to dendritic cells for induction of thymic tolerance

Blood, 2011-09, Vol.118 (9), p.2462-2472

2011

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RANK signals from CD4(+)3(-) inducer cells regulate development of Aire-expressing epithelial cells in the thymic medulla

The Journal of experimental medicine, 2007-06, Vol.204 (6), p.1267-1272

2007

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Post-Aire maturation of thymic medullary epithelial cells involves selective expression of keratinocyte-specific autoantigens

Frontiers in immunology, 2012-01, Vol.3 (March), p.19-19

2012

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Sensitive Detection of BCR-ABL1 Mutations in Patients With Chronic Myeloid Leukemia After Imatinib Resistance Is Predictive of Outcome During Subsequent Therapy

Journal of clinical oncology, 2011-11, Vol.29 (32), p.4250-4259

2011

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Brief Report: Identification of a Pathogenic Variant in TREX1 in Early‐Onset Cerebral Systemic Lupus Erythematosus by Whole‐Exome Sequencing

Arthritis & Rheumatology, 2014-12, Vol.66 (12), p.3382-3386

2014

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Functional transcriptome analysis of the postnatal brain of the Ts1Cje mouse model for Down syndrome reveals global disruption of interferon-related molecular networks

BMC genomics, 2014-07, Vol.15 (1), p.624-624

2014

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Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy

Frontiers in oncology, 2023-06, Vol.13, p.1183318-1183318

2023

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PAM variants in patients with thyrotrophinomas, cyclical Cushing's disease and prolactinomas

Frontiers in endocrinology (Lausanne), 2023-11, Vol.14, p.1305606-1305606

2023

Volltextzugriff (PDF)

TP53 mutation variant allele frequency of ≥10% is associated with poor prognosis in therapy-related myeloid neoplasms

Blood cancer journal (New York), 2023-04, Vol.13 (1), p.51-51, Article 51

2023

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Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient

Haematologica (Roma), 2017-12, Vol.102 (12), p.e506

2017

Volltextzugriff (PDF)

Autoimmune Regulator Deficiency Results in Decreased Expression of CCR4 and CCR7 Ligands and in Delayed Migration of CD4+ Thymocytes

The Journal of immunology (1950), 2009-12, Vol.183 (12), p.7682-7691

2009

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Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA)

Blood, 2020-07, Vol.136 (1), p.24-35

2020

Volltextzugriff (PDF)

Tmprss3, a Transmembrane Serine Protease Deficient in Human DFNB8/10 Deafness, Is Critical for Cochlear Hair Cell Survival at the Onset of Hearing

The Journal of biological chemistry, 2011-05, Vol.286 (19), p.17383-17397

2011

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Myeloid neoplasms arising after methotrexate therapy for autoimmune rheumatological diseases do not exhibit poor-risk molecular features

Blood cancer journal (New York), 2024-07, Vol.14 (1), p.116-5, Article 116

2024

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Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

BMC medical genomics, 2021-02, Vol.14 (1), p.64-7, Article 64

2021

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A case of Aromatase deficiency due to a novel CYP19A1 mutation

BMC endocrine disorders, 2014-02, Vol.14 (1), p.16-16, Article 16

2014

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A network-biology perspective of microRNA function and dysfunction in cancer

Splice factor mutations and alternative splicing as drivers of hematopoietic malignancy

HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse

GATA2 is required for lymphatic vessel valve development and maintenance

Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

Spliceosome mutations in hematopoietic malignancies

A comparative analysis of algorithms for somatic SNV detection in cancer

Aire regulates the transfer of antigen from mTECs to dendritic cells for induction of thymic tolerance

RANK signals from CD4(+)3(-) inducer cells regulate development of Aire-expressing epithelial cells in the thymic medulla

Post-Aire maturation of thymic medullary epithelial cells involves selective expression of keratinocyte-specific autoantigens

Sensitive Detection of BCR-ABL1 Mutations in Patients With Chronic Myeloid Leukemia After Imatinib Resistance Is Predictive of Outcome During Subsequent Therapy

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

Brief Report: Identification of a Pathogenic Variant in TREX1 in Early‐Onset Cerebral Systemic Lupus Erythematosus by Whole‐Exome Sequencing

Functional transcriptome analysis of the postnatal brain of the Ts1Cje mouse model for Down syndrome reveals global disruption of interferon-related molecular networks

Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy

PAM variants in patients with thyrotrophinomas, cyclical Cushing's disease and prolactinomas

TP53 mutation variant allele frequency of ≥10% is associated with poor prognosis in therapy-related myeloid neoplasms

Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient

Autoimmune Regulator Deficiency Results in Decreased Expression of CCR4 and CCR7 Ligands and in Delayed Migration of CD4+ Thymocytes

Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA)

Tmprss3, a Transmembrane Serine Protease Deficient in Human DFNB8/10 Deafness, Is Critical for Cochlear Hair Cell Survival at the Onset of Hearing

Myeloid neoplasms arising after methotrexate therapy for autoimmune rheumatological diseases do not exhibit poor-risk molecular features

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

A case of Aromatase deficiency due to a novel CYP19A1 mutation

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