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Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program2026 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Lea Graafen, Carsten Speckmann, Shahrzad Bakhtiar, Horst von Bernuth, Kai Lehmberg, Peter Bader, +27 more
4citations -
Managing non-SCID T cell lymphopenia after TREC-based newborn screening2026 Journal of Human Immunity article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Annelotte J. Duintjer, Robbert G. M. Bredius, J. Merlijn van den Berg, Lisette van de Corput, Willem A. Dik, Marielle E van Gijn, +13 more
3citations -
45 Assessment of TREC-based NBS SCID reporting practices for harmonization of results and interpretation: a global survey2024 Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders
Isaac Kistler, DIANNE R. WEBSTER, Jennifer L. Taylor, Monica G. Lawrence, Anne Pham‐Huy, Joyce E. Yu, +6 more
0citations -
STAR-TREC phase II: Can we save the rectum by watchful waiting or transanal surgery following (chemo)radiotherapy versus total mesorectal excision for early rectal cancer?2022 Journal of Clinical Oncology conference-abstract Medicine Colorectal Cancer Surgical Treatments
Simon Parkinson Bach, Johannes H.W. de Wilt, Femke P. Peters, Karen‐Lise Garm Spindler, Ane Lindegaard Appelt, Mark T.W. Teo, +14 more
19citations -
FOXN1 immunodeficiency detected by TREC-based newborn screening - A challenge of management?2026 Immunology Letters article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Lea Graafen, Arndt Borkhardt, Julian Reiß, Stavrieta Soura, Hans‐Jürgen Laws, Markus Uhrberg, +5 more
1citations -
Assessment of TREC-based NBS SCID reporting practices for harmonization of results and interpretation: a global survey2025 Journal of Immunological Methods article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders
Jahnavi Aluri, Isaac Kistler, DIANNE R. WEBSTER, Jennifer L. Taylor, Monica G. Lawrence, Anne Pham‐Huy, +7 more
0citations -
Chemoradiotherapy versus short-course radiotherapy for response-adapted organ preservation in early-stage and intermediate-stage rectal cancer (STAR-TREC): 12-month results of an international, multicentre, open-label, parallel-group, randomised, phase 2/3 trial
Simon Parkinson Bach, David Sebag‐Montefiore, Victoria Homer, Alexandra Gilbert, Ane Lindegaard Appelt, Ian Geh, +94 more
0citations -
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)2023 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Carsten Speckmann, Uta Nennstiel, Manfred Hoenig, Michael H. Albert, Sujal Ghosh, Catharina Schuetz, +26 more
54citations -
Newborn screening for SCID and severe T lymphocytopenia in Europe2024 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Maartje Blom, Maarja Soomann, Pere Soler‐Palacín, Anna Šedivá, Asbjørg Stray‐Pedersen, Rolf H Zetterström, +3 more
40citations -
Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs2022 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Jenny Lingman Framme, Christina Lundqvist, Anna‐Carin Lundell, Pauline A. van Schouwenburg, Andri Leó Lemarquis, Karolina Thörn, +12 more
16citations -
Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency2021 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access cited by 2 patents
Maartje Blom, Ingrid Pico‐Knijnenburg, Sandra Imholz, Lotte T. W. Vissers, Janika Schulze, Jeannette Werner, +2 more
25citations -
Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies2026 Journal of Human Immunity article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Annelotte J. Duintjer, Maartje Blom, Robbert G. M. Bredius, Ingrid Pico‐Knijnenburg, Adinda Heuperman, Hennie M. Hodemaekers, +13 more
0citations -
Clinical challenges following early detection of ataxia telangiectasia through SCID newborn screening2025 Journal of Human Immunity article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Thomas J. Weitering, Dagmar Berghuis, Maartje Blom, Michèl A.A.P. Willemsen, Mirjam van der Burg
2citations -
Economic Evaluation of Different Screening Strategies for Severe Combined Immunodeficiency Based on Real-Life Data2021 International Journal of Neonatal Screening article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
M. Elske van den Akker‐van Marle, Maartje Blom, Mirjam van der Burg, Robbert G. M. Bredius, Catharina P B van der Ploeg
10citations -
Lessons learned from the diagnostic work-up of a patient with the bare lymphocyte syndrome type II2022 Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Maurits Damoiseaux, Jan G.M.C. Damoiseaux, Ingrid Pico‐Knijnenburg, Mirjam van der Burg, Robbert Bredius, Gijs van Well
4citations -
Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement2026 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Valentina Galassi Deforie, Reza Maroofian, Irem Karagoz, Annie Godwin, Ebtehal Al Sheikh, Gaia Gestri, +60 more
3citations -
Dominant-negative PSMB10 disrupts immunoproteasome assembly and leads to transient T lymphopenia2026 Journal of Human Immunity article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Sujal Ghosh, Y Wang, Christoph Schultheiß, Arndt Borkhardt, Angélique Sanchez Dafun, Liisa Knipp, +19 more
2citations -
Exploiting KREC: Time for newborn screening and beyond—proceedings from the First International KREC Consortium Meeting2026 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders
Paola R. Suhet, Jordan Abbott, Roshini Sarah Abraham, Mei Wang Baker, Oksana Boyarchuk, Karlla Welch Brigatti, +18 more
0citations -
Mesorectal radiotherapy for early stage rectal cancer: A novel target volume2020 Clinical and Translational Radiation Oncology article Medicine Colorectal Cancer Surgical Treatments Open access
Femke P. Peters, Mark T.W. Teo, Ane Lindegaard Appelt, Simon Parkinson Bach, Gunnar Baatrup, Johannes H.W. de Wilt, +4 more
13citations -
Activity-Based Protein Profiling Identifies an α-Amylase Family Protein Contributing to the Virulence of Methicillin-Resistant Staphylococcus aureus2025 ACS Infectious Diseases article Medicine Antimicrobial Resistance in Staphylococcus Open access
Md Jalal Uddin, Kjersti Julin, Herman S. Overkleeft, Mona Johannessen, Christian Stephan Lentz
1citations