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A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry

PloS one, 2023-03, Vol.18 (3), p.e0283024-e0283024

2023

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Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways

The EMBO journal, 2008-03, Vol.27 (5), p.736-747

2008

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Gene Therapy of the Hemoglobinopathies

HemaSphere, 2020-10, Vol.4 (5), p.e479-n/a

2020

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MAP3K7 is recurrently deleted in pediatric T-lymphoblastic leukemia and affects cell proliferation independently of NF-κB

BMC cancer, 2018-06, Vol.18 (1), p.663-663, Article 663

2018

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Determination of Four Sequential Stages during Microautophagy in Vitro

The Journal of biological chemistry, 2004-03, Vol.279 (11), p.9987-9996

2004

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Benefits of a Disease Management Program for Sickle Cell Disease in Germany 2011–2019: The Increased Use of Hydroxyurea Correlates with a Reduced Frequency of Acute Chest Syndrome

Journal of clinical medicine, 2021-09, Vol.10 (19), p.4543

2021

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Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation

RNA (Cambridge), 2006-06, Vol.12 (6), p.1015-1022

2006

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Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany-A Brief Narrative Review

International journal of neonatal screening, 2021-01, Vol.7 (1), p.7

2021

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Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference

British journal of haematology, 2018-11, Vol.183 (4), p.648-660

2018

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The epidemiology of sickle cell disease in Germany following recent large‐scale immigration

Pediatric blood & cancer, 2017-07, Vol.64 (7), p.e26550-n/a

2017

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Single-cell analysis of structural variations and complex rearrangements with tri-channel processing

Nature biotechnology, 2020-03, Vol.38 (3), p.343-354

2020

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Expression of CD56 defines a distinct subgroup in childhood T‐ALL with inferior outcome. Results of the ALL‐BFM 2000 trial

British journal of haematology, 2018-10, Vol.183 (1), p.96-103

2018

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Exon-Junction Complex Components Specify Distinct Routes of Nonsense-Mediated mRNA Decay with Differential Cofactor Requirements

Molecular cell, 2005-10, Vol.20 (1), p.65-75

2005

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Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea

Haematologica (Roma), 2022-07, Vol.107 (7), p.1577-1588

2022

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PTEN abnormalities predict poor outcome in children with T‐cell acute lymphoblastic leukemia treated according to ALL IC‐BFM protocols

American journal of hematology, 2019-04, Vol.94 (4), p.E93-E96

2019

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Mikrozytäre Anämien: Ein Algorithmus zur schnellen Differenzialdiagnostik

Pädiatrie : Kinder- und Jugendmedizin hautnah, 2022-12, Vol.34 (6), p.38-42

2022

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Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening

Annals of hematology, 2016-02, Vol.95 (3), p.397-402

2016

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NOTCH1 mutation, TP53 alteration and myeloid antigen expression predict outcome heterogeneity in children with first relapse of T-cell acute lymphoblastic leukemia

Haematologica (Roma), 2017-07, Vol.102 (7), p.e249-e252

2017

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Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC)

Clinical immunology (Orlando, Fla.), 2017-02, Vol.175, p.51-55

2017

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A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry

Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways

Gene Therapy of the Hemoglobinopathies

PDX models recapitulate the genetic and epigenetic landscape of pediatric T‐cell leukemia

Chromatin accessibility landscape of pediatric T‐lymphoblastic leukemia and human T‐cell precursors

MAP3K7 is recurrently deleted in pediatric T-lymphoblastic leukemia and affects cell proliferation independently of NF-κB

Determination of Four Sequential Stages during Microautophagy in Vitro

Benefits of a Disease Management Program for Sickle Cell Disease in Germany 2011–2019: The Increased Use of Hydroxyurea Correlates with a Reduced Frequency of Acute Chest Syndrome

Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation

Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany-A Brief Narrative Review

Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference

The epidemiology of sickle cell disease in Germany following recent large‐scale immigration

Single-cell analysis of structural variations and complex rearrangements with tri-channel processing

Expression of CD56 defines a distinct subgroup in childhood T‐ALL with inferior outcome. Results of the ALL‐BFM 2000 trial

The activating STAT5B N642H mutation is a common abnormality in pediatric T-cell acute lymphoblastic leukemia and confers a higher risk of relapse

Pediatric T-cell lymphoblastic leukemia evolves into relapse by clonal selection, acquisition of mutations and promoter hypomethylation

Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution

Exon-Junction Complex Components Specify Distinct Routes of Nonsense-Mediated mRNA Decay with Differential Cofactor Requirements

Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea

PTEN abnormalities predict poor outcome in children with T‐cell acute lymphoblastic leukemia treated according to ALL IC‐BFM protocols

Sickle cell disease in Germany: Results from a national registry

Mikrozytäre Anämien: Ein Algorithmus zur schnellen Differenzialdiagnostik

Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening

NOTCH1 mutation, TP53 alteration and myeloid antigen expression predict outcome heterogeneity in children with first relapse of T-cell acute lymphoblastic leukemia

Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC)

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