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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 -
Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands2020 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Maartje Blom, Robbert G. M. Bredius, Marleen Elizabeth Jansen, Gert Weijman, Evelien A. Kemper, Clementien L. Vermont, +13 more
51citations -
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 -
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 Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress2024 International Journal of Neonatal Screening article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Leire Solís, Samya Van Coillie, James R. Bonham, Fabian H. Hauck, Lennart L G Hammarström, Frank J. T. Staal, +3 more
3citations -
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 -
Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency2021 Journal of Allergy and Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Maartje Blom, Rolf H Zetterström, Asbjørg Stray‐Pedersen, Kimberly C Gilmour, Andrew Richard Gennery, Jennifer M. Puck, +1 more
38citations -
Towards Achieving Equity and Innovation in Newborn Screening across Europe2022 International Journal of Neonatal Screening article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Jaka Šikonja, Urh Grošelj, Maurizio Scarpa, Giancarlo la Marca, David Cheillan, Stefan Kölker, +11 more
39citations -
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 -
The Methodological Quality and Challenges in Conducting Economic Evaluations of Newborn Screening: A Scoping Review2020 International Journal of Neonatal Screening article Economics, Econometrics and Finance Health Systems, Economic Evaluations, Quality of Life Open access
Pasquale Cacciatore, Laurenske A. Visser, Nasuh Büyükkaramikli, Catharina P. B. van der Ploeg, M. Elske van den Akker‐van Marle
12citations -
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years2021 Orphanet Journal of Rare Diseases article Medicine Neurogenetic and Muscular Disorders Research Open access
Katharina Vill, Oliver Schwartz, Astrid Blaschek, Dieter Gläser, Uta Nennstiel, Brunhilde Wirth, +11 more
168citations -
Expanded Newborn Screening Metabolites as Potential Biomarkers of Extrauterine Growth Restriction in Very-Low-Birth-Weight Preterm Infants2026 Nutrients article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Marco Scaglione, Maria Grazia Calevo, Sara Pessano, Francesca Nastasia Perri, Stefano Mariani, Paolo Massirio, +7 more
0citations -
Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?2022 Journal of Neuromuscular Diseases article Medicine Neurogenetic and Muscular Disorders Research
Astrid Blaschek, Heike Kölbel, Oliver Schwartz, Cornelia Köhler, Dieter Gläser, Katja Eggermann, +4 more
34citations -
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 -
Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia2025 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Maartje Blom, Annelotte J. Duintjer, Ingrid Pico‐Knijnenburg, Sandra Imholz, Sahila Balkassmi, Hermine A. van Duyvenvoorde, +1 more
5citations -
Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent
Pablo Beckers, Jean‐Hubert Caberg, Vinciane Dideberg, Tamara Dangouloff, Johan T. den Dunnen, Vincent Bours, +2 more
19citations -
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?2020 Journal of Neuromuscular Diseases article Medicine Neurogenetic and Muscular Disorders Research Open access
Wolfgang Müller‐Felber, Katharina Vill, Oliver Schwartz, Dieter Gläser, Uta Nennstiel, Brunhilde Wirth, +11 more
73citations -
Key Outcomes from a Stakeholder Workshop on Genomic Newborn Screening: Recommended Next Steps for the Integration of Genomics into Public Health Programs2026 Public Health Genomics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Saskia G. Smits, Annelotte J. Duintjer, Hermine A. van Duyvenvoorde, Wendy Rodenburg, Mirjam van der Burg, Lidewij Henneman, +1 more
1citations -
Comparing DNA Isolation and Preparation Protocols for Dried Blood Spots in the Context of Genomic Newborn Screening2025 International Journal of Neonatal Screening article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Annelotte J. Duintjer, Sandra Imholz, Ingrid Pico‐Knijnenburg, Adinda Heuperman, Hennie M. Hodemaekers, Eva S. Deutekom, +3 more
4citations -
Abnormal Results of Newborn Screening for SCID After Azathioprine Exposure In Utero: Benefit of TPMT Genotyping in Both Mother and Child2021 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Maartje Blom, Ingrid Pico‐Knijnenburg, Joris M. van Montfrans, Robbert G. M. Bredius, Mirjam van der Burg, Jesse Joachim Swen, +1 more
13citations -
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