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Citations	Article
119	Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023) by Bradford L. Therrell, Carmencita D. Padilla, Gustavo J. C. Borrajo, Issam Khneisser, Peter C. J. I. Schielen, Jennifer Knight-Madden, Helen L. Malherbe and Marika Kase
39	Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation by Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D. Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark and Danya F. Vears
34	Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy by Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill and Alice Bessey
32	Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy by Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill and Alice Bessey
30	Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy by Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P. Burlina and Alberto B. Burlina
29	Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? by Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, Friederike Hörster, Marina A. Morath, Karla Alex, Heiko Brennenstuhl, Sascha Settegast, Jürgen G. Okun, Christian P. Schaaf, Eva C. Winkler and Stefan Kölker
28	Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation by Meghan E. McGarry, Karen S. Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M. Christine Dorley, Steven Hicks, Clement L. Ren, Kathryn Tullis, Debra Freedenberg, Q. Eileen Wafford, Sarah E. Hempstead, Marissa A. Taylor, Albert Faro, Marci K. Sontag and Susanna A. McColley
20	Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States by Craig M. Zaidman, Cameron D. Crockett, Ethan Wedge, Grace Tabatabai and Natalie Goedeker
18	Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents by Lieke M. van den Heuvel, Sylvia M. van der Pal, Rendelien K. Verschoof-Puite, Jasmijn E. Klapwijk, Ellen Elsinghorst, Eugènie Dekkers, Catharina P. B. van der Ploeg and Lidewij Henneman
16	Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry by Chengfang Tang, Lixin Li, Ting Chen, Yulin Li, Bo Zhu, Yinhong Zhang, Yifan Yin, Xiulian Liu, Cidan Huang, Jingkun Miao, Baosheng Zhu, Xiaohua Wang, Hui Zou, Lianshu Han, Jizhen Feng and Yonglan Huang

Citations	Article
32	Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy by Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill and Alice Bessey
29	Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? by Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, Friederike Hörster, Marina A. Morath, Karla Alex, Heiko Brennenstuhl, Sascha Settegast, Jürgen G. Okun, Christian P. Schaaf, Eva C. Winkler and Stefan Kölker
28	Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation by Meghan E. McGarry, Karen S. Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M. Christine Dorley, Steven Hicks, Clement L. Ren, Kathryn Tullis, Debra Freedenberg, Q. Eileen Wafford, Sarah E. Hempstead, Marissa A. Taylor, Albert Faro, Marci K. Sontag and Susanna A. McColley
20	Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States by Craig M. Zaidman, Cameron D. Crockett, Ethan Wedge, Grace Tabatabai and Natalie Goedeker
9	A Novel Newborn Screening Program for Sickle Cell Disease in Nigeria by Aisha A. Galadanci, Umma A. Ibrahim, Yvonne Carroll, Yusuf D. Jobbi, Zubaida L. Farouk, Aisha Mukaddas, Nafiu Hussaini, Bilya Sani Musa, Lauren J. Klein and Michael R. DeBaun
8	Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022—Epidemiology and Impact on Clinical Events by José Manuel González de Aledo-Castillo, Ana Argudo-Ramírez, David Beneitez-Pastor, Anna Collado-Gimbert, Francisco Almazán Castro, Sílvia Roig-Bosch, Anna Andrés-Masó, Anna Ruiz-Llobet, Georgina Pedrals-Portabella, David Medina-Santamaria, Gemma Nadal-Rey, Marina Espigares-Salvia, Maria Teresa Coll-Sibina, Marcelina Algar-Serrano, Montserrat Torrent-Español, Pilar Leoz-Allegretti, Anabel Rodríguez-Pebé, Marta García-Bernal, Elisabet Solà-Segura, Amparo García-Gallego, Blanca Prats-Viedma, Rosa María López-Galera, Abraham J. Paredes-Fuentes, Sonia Pajares García, Giovanna Delgado-López, Adoración Blanco-Álvarez, Bárbara Tazón-Vega, Cristina Díaz de Heredia, María del Mar Mañú-Pereira, José Luis Marín-Soria, Judit García-Villoria, Pablo Velasco-Puyó and on behalf of the Sickle Cell Disease Newborn Screening Group of Catalonia Show full author list Hide full author list
8	The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands by Rosalie C. Martens, Anita Boelen, Michèle H. van der Kemp, Annet M. Bosch, Eveline M. Berghout, Gert Weijman, Nitash Zwaveling-Soonawala, Rendelien K. Verschoof-Puite, Robert de Jonge, Sabine E. Hannema, Judith E. Bosmans and Annemieke C. Heijboer
8	ISNS General Guidelines for Neonatal Bloodspot Screening 2025 by Dianne Webster, Amy Gaviglio, Aysha Habib Khan, Mei Baker, David Cheillan, Layachi Chabraoui, Ghassan Abdoh, Juan Cabello, Roberto Giugliani, Dimitris Platis, Jan Østrup, R. Rodney Howell, Peter C. J. I. Schielen and James R. Bonham
7	A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II by Olulade Ayodele, Daniel Fertek, Obaro Evuarherhe, Csaba Siffel, Jennifer Audi, Karen S. Yee and Barbara K. Burton
7	Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability by Abigail Veldman, Birgit Sikkema-Raddatz, Terry G. J. Derks, Clara D. M. van Karnebeek, M. B. Gea Kiewiet, Margaretha F. Mulder, Marcel R. Nelen, M. Estela Rubio-Gozalbo, Richard J. Sinke, Monique G. de Sain-van der Velden, Gepke Visser, Maaike C. de Vries, Dineke Westra, Monique Williams, Ron A. Wevers, M. Rebecca Heiner-Fokkema and Francjan J. van Spronsen

Citations	Article
4	Comparing DNA Isolation and Preparation Protocols for Dried Blood Spots in the Context of Genomic Newborn Screening by Annelotte J. Duintjer, Sandra Imholz, Ingrid Pico-Knijnenburg, Adinda Heuperman, Hennie Hodemaekers, Eva S. Deutekom, Els Voorhoeve, Martijn E. T. Dollé and Mirjam van der Burg
4	Advances and Gaps in Global Newborn Screening for Sickle Cell Disease by Lisa Marie Shook and Russell E. Ware
3	Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives by Adelaide Ambrosio, Tiziana Fioretti, Barbara D’Andrea, Lucia Pezone, Ilaria Bitetti, Carmela Di Domenico, Sabrina Vallone, Valeria Maiolo, Angela Cioce, Mariano Giustino, Antonio Varone and Gabriella Esposito
3	Cord Blood-Based Neonatal Screening for Hemoglobinopathies in Northern Tunisia by Houyem Ouragini, Nizar Ben Halim, Sana Zitouni, Dorra Chaouachi, Imen Boudrigua, Naima Saidani, Imen Kraiem, Amira Ayachi, Salem Abbes, Mechaal Mourali and Samia Menif
3	Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A Scoping Review by Terence Diane Fabella, Joery den Hoed, Lidewij Henneman, Wendy Rodenburg, Johannes C. F. Ket, Jan Schouten and Erik A. Sistermans
3	Analytical Validation of a Genomic Newborn Screening Workflow by Kristine Hovhannesyan, Laura Helou, Benoit Charloteaux, Valerie Jacquemin, Flavia Piazzon, Myriam Mni, Charlotte Flohimont, Corinne Fasquelle, Davood Mashhadizadeh, Tamara Dangouloff, Vincent Bours, Laurent Servais, Leonor Palmeira and François Boemer
3	Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study by Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti, Clara Antonello, Filippo Arrigoni, Marina Balestriero, Barbara Borsani, Laura Cappelletti, Elisa Cattaneo, Matilde Ferrario, Giulia Fiore, Maria Iascone, Giana Izzo, Simona Lucchi, Cecilia Parazzini, Michela Perrone Donnorso, Luigina Spaccini, Ylenia Vaia, Pierangelo Veggiotti, Elvira Verduci, Gianvincenzo Zuccotti, Cristina Cereda, Davide Tonduti and XALD-NBS Study Group Show full author list Hide full author list
2	Reflections on 50 Years of Cystic Fibrosis Newborn Screening Experience with Critical Perspectives, Assessment of Current Status, and Predictions for Future Improvements by Philip M. Farrell
2	Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005–2024): Outcomes by Jariya Upadia, Grace Noh, Kea Crivelly, Elise Aziz, Amy Cunningham and Hans C. Andersson
2	Universal Decentralized Cord Blood TSH Screening Should Be Offered as Routine Delivery Care in Limited-Resource Settings by Nitash Zwaveling-Soonawala, Anju Virmani, Aman B. Pulungan, Joseph Haddad, Sirisha Kusuma Boddu, Feyza Darendeliler and A. S. Paul van Trotsenburg

Citations	Article
2	Current Status of Newborn Screening in Southeastern and Central Europe by Nika Požun, Daša Perko, Violeta Anastasovska, Ivo Barić, Mihail Baša, Tadej Battelino, Iva Bilandžija, Ian Brincat, Miloš Brkušanin, Maja Djordević, Ivanka Dimova, Ana Drole Torkar, Ksenija Fumić, Sergiu Gladun, Panagiotis Girginoudis, Ildikó Szatmári, Ivana Kavečan, Jasmina Katanić, Vjosa Kotori, Nina Marić, Jelena Martić, Olja Manđarelo, Tatjana Milenković, Matej Mlinarič, Florentina Moldovanu, Michaela Nanu, Péter Monostori, Iskra Modeva, Branka Opančina, Dimitris Platis, Maja Raičević, Žiga Iztok Remec, Barbka Repič Lampret, Alexey Savov, Anastasia Skouma, Aleksandar Sovtić, Iva Stoeva, Alma Toromanović, Domen Trampuž, Natalia Usurelu, Jelena Višekruna, Marios Vogazianos, Maximillian Zeyda, Mojca Žerjav Tanšek and Urh Grošelj Show full author list Hide full author list
1	Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program by Madalina Cristina Leanca, Gelu Onose, Georgiana Nicolae, Elena Neagu, Daniela Vasile, Ecaterina Bercu, Oana Mirabela Balanescu, Andrei Capitanescu, Constantin Munteanu, Cristina Popescu and Andrada Mirea
1	Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status—2026 by Bradford L. Therrell, Jr.
1	Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation by Ekaterina Y. Zakharova, Galina V. Baydakova, Polina V. Baranova, Darya Y. Aleksandrova, Olga A. Shchagina, Yulia S. Itkis, Natalya V. Milovanova, Tatyana S. Nagornova, Olga N. Ivanova, Yana D. Nazarenko, Sergey V. Voronin, Alena L. Chukhrova, Varvara A. Kadnikova, Ekaterina E. Lotnik, Nina V. Ryadninskaya, Aleksander V. Polyakov, Kirill V. Savostyanov, Fanil S. Bilalov, Alexander L. Koroteev, Dmitry Y. Trofimov, Tatyana A. Bairova, Gulnara N. Seitova, Sergei V. Mordanov, Svetlana A. Matulevich, Elena B. Nikolaeva and Sergey I. Kutsev Show full author list Hide full author list
1	Clinical Experience of Timing Treatment in Newborns with Spinal Muscular Atrophy: A Call for Standardized Screening Practices in Italy by Ilaria Bitetti, Rosa Iannaccone, Giovanna Margiotta and Antonio Varone
1	Cost-Effectiveness of Newborn Screening for Infantile-Onset Pompe Disease in Japan by Keiko Konomura, Motoko Tanaka, Go Tajima and Eri Hoshino
1	Acid Sphingomyelinase Activity in Dried Blood Spot from Neonatal Intensive Care Unit–Admitted Neonates: A Pilot Study for Expanded Newborn Screening in Japan by Akie Kato, Atsuko Noguchi, Hiroyuki Adachi, Kiichi Takahashi, Masato Ito, Tomoo Ito, Shozo Ota and Hirokazu Arai
1	Parents’ Experiences of Receiving a Severe Combined Immunodeficiency (SCID) or Non-SCID T-Cell Lymphopenia Outcome During the Newborn Screening Evaluation in England by Pru Holder, Chloe Musa, Jim B. Chilcott, Anju D. Keetharuth, Louise Moody, Ellinor K. Olander, Fiona Ulph and Jane Chudleigh

Citations	Article
224	Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 by J. Gerard Loeber, Dimitris Platis, Rolf H. Zetterström, Shlomo Almashanu, François Boemer, James R. Bonham, Patricia Borde, Ian Brincat, David Cheillan, Eugenie Dekkers, Dobry Dimitrov, Ralph Fingerhut, Leifur Franzson, Urh Groselj, David Hougaard, Maria Knapkova, Mirjana Kocova, Vjosa Kotori, Viktor Kozich, Anastasiia Kremezna, Riikka Kurkijärvi, Giancarlo La Marca, Ruth Mikelsaar, Tatjana Milenkovic, Vyacheslav Mitkin, Florentina Moldovanu, Uta Ceglarek, Loretta O'Grady, Mariusz Oltarzewski, Rolf D. Pettersen, Danijela Ramadza, Damilya Salimbayeva, Mira Samardzic, Markhabo Shamsiddinova, Jurgita Songailiené, Ildiko Szatmari, Nazi Tabatadze, Basak Tezel, Alma Toromanovic, Irina Tovmasyan, Natalia Usurelu, Parsla Vevere, Laura Vilarinho, Marios Vogazianos, Raquel Yahyaoui, Maximilian Zeyda and Peter C.J.I. Schielen Show full author list Hide full author list
208	Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment by Baba P. D. Inusa, Lewis L. Hsu, Neeraj Kohli, Anissa Patel, Kilali Ominu-Evbota, Kofi A. Anie and Wale Atoyebi
125	*Newborn Screening for CF across the Globe—Where Is It Worthwhile?* by Virginie Scotet, Hector Gutierrez and Philip M. Farrell
119	Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023) by Bradford L. Therrell, Carmencita D. Padilla, Gustavo J. C. Borrajo, Issam Khneisser, Peter C. J. I. Schielen, Jennifer Knight-Madden, Helen L. Malherbe and Marika Kase
101	Thalassemias: An Overview by Michael Angastiniotis and Stephan Lobitz
96	Newborn Screening for X-Linked Adrenoleukodystrophy by Ann B. Moser, Richard O. Jones, Walter C. Hubbard, Silvia Tortorelli, Joseph J. Orsini, Michele Caggana, Beth H. Vogel and Gerald V. Raymond
91	Influence of Hematocrit and Total-Spot Volume on Performance Characteristics of Dried Blood Spots for Newborn Screening by Elizabeth M. Hall, Sharon R. Flores and Víctor R. De Jesús
74	Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders by Stuart J. Moat, Roanna S. George and Rachel S. Carling
73	Newborn Screening by Genomic Sequencing: Opportunities and Challenges by David Bick, Arzoo Ahmed, Dasha Deen, Alessandra Ferlini, Nicolas Garnier, Dalia Kasperaviciute, Mathilde Leblond, Amanda Pichini, Augusto Rendon, Aditi Satija, Alice Tuff-Lacey and Richard H. Scott
69	Newborn and Infant Hearing Screening Facing Globally Growing Numbers of People Suffering from Disabling Hearing Loss by Katrin Neumann, Shelly Chadha, George Tavartkiladze, Xingkuan Bu and Karl R. White

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42172	Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023) by Bradford L. Therrell, Carmencita D. Padilla, Gustavo J. C. Borrajo, Issam Khneisser, Peter C. J. I. Schielen, Jennifer Knight-Madden, Helen L. Malherbe and Marika Kase
17101	Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation by Meghan E. McGarry, Karen S. Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M. Christine Dorley, Steven Hicks, Clement L. Ren, Kathryn Tullis, Debra Freedenberg, Q. Eileen Wafford, Sarah E. Hempstead, Marissa A. Taylor, Albert Faro, Marci K. Sontag and Susanna A. McColley
13099	2023 APHL/ISNS Newborn Screening Symposium by Richard S. Olney, James R. Bonham, Peter C. J. I. Schielen, Dara Slavin and Jelili Ojodu
12095	Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? by Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, Friederike Hörster, Marina A. Morath, Karla Alex, Heiko Brennenstuhl, Sascha Settegast, Jürgen G. Okun, Christian P. Schaaf, Eva C. Winkler and Stefan Kölker
9000	Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy by Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill and Alice Bessey
7738	Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years’ Experience from a Nationwide Program by Margherita Ruoppolo, Cristina Cereda, Teresa Giovanniello, Sabrina Malvagia, Sara Boenzi, Francesca Teofoli, on behalf of the SIMMESN Italian Newborn Screening Group and Alberto Burlina
7731	Consolidated Newborn Bloodspot Screening Efforts in Developing Countries in the Asia Pacific—2024 by Bradford L. Therrell, Carmencita D. Padilla, Michelle E. Abadingo, Shree Prasad Adhikari, Thuza Aung, Thet Thet Aye, Sanjoy Kumer Dey, Muhammad Faizi, Erdenetuya Ganbaatar, Tran Thi Huong Giang, Hoang Thu Hang, Rathmony Heng, Seema Kapoor, Khurelbaatar Nyamdavaa, Prajwal Paudel, Kimyi Phou, Aman B. Pulungan, Chittaphone Sayyavong, Salimah R. Walani and Tariq Zafar
7632	International Survey on Phenylketonuria Newborn Screening by Domen Trampuž, Peter C. J. I. Schielen, Rolf H. Zetterström, Maurizio Scarpa, François Feillet, Viktor Kožich, Trine Tangeraas, Ana Drole Torkar, Matej Mlinarič, Daša Perko, Žiga Iztok Remec, Barbka Repič Lampret, Tadej Battelino, ISNS Study Group on PKU, Francjan J. van Spronsen, James R. Bonham and Urh Grošelj
7098	Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions by Eva Thimm, Anselma Riederer, Jerry Vockley, Dries Dobbelaere, Monique Williams, Anita MacDonald, Katharina Dokoupil, Ulrich A. Schatz and Regina Ensenauer
7001	Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy by Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill and Alice Bessey

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17101	Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation by Meghan E. McGarry, Karen S. Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M. Christine Dorley, Steven Hicks, Clement L. Ren, Kathryn Tullis, Debra Freedenberg, Q. Eileen Wafford, Sarah E. Hempstead, Marissa A. Taylor, Albert Faro, Marci K. Sontag and Susanna A. McColley
12095	Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? by Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, Friederike Hörster, Marina A. Morath, Karla Alex, Heiko Brennenstuhl, Sascha Settegast, Jürgen G. Okun, Christian P. Schaaf, Eva C. Winkler and Stefan Kölker
7738	Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years’ Experience from a Nationwide Program by Margherita Ruoppolo, Cristina Cereda, Teresa Giovanniello, Sabrina Malvagia, Sara Boenzi, Francesca Teofoli, on behalf of the SIMMESN Italian Newborn Screening Group and Alberto Burlina
7731	Consolidated Newborn Bloodspot Screening Efforts in Developing Countries in the Asia Pacific—2024 by Bradford L. Therrell, Carmencita D. Padilla, Michelle E. Abadingo, Shree Prasad Adhikari, Thuza Aung, Thet Thet Aye, Sanjoy Kumer Dey, Muhammad Faizi, Erdenetuya Ganbaatar, Tran Thi Huong Giang, Hoang Thu Hang, Rathmony Heng, Seema Kapoor, Khurelbaatar Nyamdavaa, Prajwal Paudel, Kimyi Phou, Aman B. Pulungan, Chittaphone Sayyavong, Salimah R. Walani and Tariq Zafar
7632	International Survey on Phenylketonuria Newborn Screening by Domen Trampuž, Peter C. J. I. Schielen, Rolf H. Zetterström, Maurizio Scarpa, François Feillet, Viktor Kožich, Trine Tangeraas, Ana Drole Torkar, Matej Mlinarič, Daša Perko, Žiga Iztok Remec, Barbka Repič Lampret, Tadej Battelino, ISNS Study Group on PKU, Francjan J. van Spronsen, James R. Bonham and Urh Grošelj
7098	Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions by Eva Thimm, Anselma Riederer, Jerry Vockley, Dries Dobbelaere, Monique Williams, Anita MacDonald, Katharina Dokoupil, Ulrich A. Schatz and Regina Ensenauer
7001	Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy by Katy Cooper, Gamze Nalbant, Anthea Sutton, Sue Harnan, Praveen Thokala, Jim Chilcott, Alisdair McNeill and Alice Bessey
6831	A Novel Newborn Screening Program for Sickle Cell Disease in Nigeria by Aisha A. Galadanci, Umma A. Ibrahim, Yvonne Carroll, Yusuf D. Jobbi, Zubaida L. Farouk, Aisha Mukaddas, Nafiu Hussaini, Bilya Sani Musa, Lauren J. Klein and Michael R. DeBaun
5949	Oral and Poster Abstracts of the 13th ISNS European Regional Meeting by Kate Hall, Peter C. J. I. Schielen and Dimitris Platis
5753	Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco by Sara El Janahi, Mounir Filali, Zakia Boudar, Amina Akhattab, Rachid El Jaoudi, Najib Al Idrissi, Nouzha Dini, Chakib Nejjari, Raquel Yahyaoui, Michele A. Lloyd-Puryear and Hassan Ghazal

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7738	Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years’ Experience from a Nationwide Program by Margherita Ruoppolo, Cristina Cereda, Teresa Giovanniello, Sabrina Malvagia, Sara Boenzi, Francesca Teofoli, on behalf of the SIMMESN Italian Newborn Screening Group and Alberto Burlina
7098	Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions by Eva Thimm, Anselma Riederer, Jerry Vockley, Dries Dobbelaere, Monique Williams, Anita MacDonald, Katharina Dokoupil, Ulrich A. Schatz and Regina Ensenauer
4540	The Burden of Congenital Hypothyroidism Without Newborn Screening: Clinical and Cognitive Findings from a Multicenter Study in Algeria by Adel Djermane, Yasmine Ouarezki, Kamelia Boulesnane, Sakina Kherra, Fadila Bouferoua, Mimouna Bessahraoui, Nihad Selim, Larbi Djahlat, Kahina Mohammedi, Karim Bouziane Nedjadi, Hakima Abes, Meriem Bensalah, Dyaeddine Lograb, Foued Abdelaziz, Dalila Douiri, Soumia Djebari, Mohamed Seghir Demdoum, Nadira Rouabeh, Meriem Oussalah, Guy Van Vliet and Asmahane Ladjouze Show full author list Hide full author list
4198	Celebrating 50 Years of Nationwide Newborn Screening in Hungary—Review, Current Situation, and Future Directions by Péter Monostori, Ildikó Szatmári, Ákos Baráth, János Bókay, Marianna Csenki, Zsolt Galla, Balázs Gellén, Nóra Grecsó, Eszter Gyüre, Zita Halász, Krisztina Hegedűs, Judit Kincs, Erika Kiss, Magdolna Kósa, István Lénárt, Andrea Pálmay, Gábor Rácz, Hajnalka Szabó, Léna Szabó, Viktória Tőkési, Andrea Xue, Petra Zsidegh, Attila József Szabó and Csaba Bereczki Show full author list Hide full author list
4160	Is It Time to Expand Newborn Screening for Congenital Hypothyroidism to Other Rare Thyroid Diseases? by Antonella Olivieri, Maria Cristina Vigone, Mariacarolina Salerno and Luca Persani
3860	Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives by Adelaide Ambrosio, Tiziana Fioretti, Barbara D’Andrea, Lucia Pezone, Ilaria Bitetti, Carmela Di Domenico, Sabrina Vallone, Valeria Maiolo, Angela Cioce, Mariano Giustino, Antonio Varone and Gabriella Esposito
3808	Comparing DNA Isolation and Preparation Protocols for Dried Blood Spots in the Context of Genomic Newborn Screening by Annelotte J. Duintjer, Sandra Imholz, Ingrid Pico-Knijnenburg, Adinda Heuperman, Hennie Hodemaekers, Eva S. Deutekom, Els Voorhoeve, Martijn E. T. Dollé and Mirjam van der Burg
3644	Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review by Lucia Laugwitz, Andrew Shenker, Erica F. Sluys, Stéphane Pintat, David Whiteman and Charlotte Chanson
3629	Analytical Validation of a Genomic Newborn Screening Workflow by Kristine Hovhannesyan, Laura Helou, Benoit Charloteaux, Valerie Jacquemin, Flavia Piazzon, Myriam Mni, Charlotte Flohimont, Corinne Fasquelle, Davood Mashhadizadeh, Tamara Dangouloff, Vincent Bours, Laurent Servais, Leonor Palmeira and François Boemer
3619	Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study by Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti, Clara Antonello, Filippo Arrigoni, Marina Balestriero, Barbara Borsani, Laura Cappelletti, Elisa Cattaneo, Matilde Ferrario, Giulia Fiore, Maria Iascone, Giana Izzo, Simona Lucchi, Cecilia Parazzini, Michela Perrone Donnorso, Luigina Spaccini, Ylenia Vaia, Pierangelo Veggiotti, Elvira Verduci, Gianvincenzo Zuccotti, Cristina Cereda, Davide Tonduti and XALD-NBS Study Group Show full author list Hide full author list

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3385	Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status—2026 by Bradford L. Therrell, Jr.
2379	Current Status of Newborn Screening in Southeastern and Central Europe by Nika Požun, Daša Perko, Violeta Anastasovska, Ivo Barić, Mihail Baša, Tadej Battelino, Iva Bilandžija, Ian Brincat, Miloš Brkušanin, Maja Djordević, Ivanka Dimova, Ana Drole Torkar, Ksenija Fumić, Sergiu Gladun, Panagiotis Girginoudis, Ildikó Szatmári, Ivana Kavečan, Jasmina Katanić, Vjosa Kotori, Nina Marić, Jelena Martić, Olja Manđarelo, Tatjana Milenković, Matej Mlinarič, Florentina Moldovanu, Michaela Nanu, Péter Monostori, Iskra Modeva, Branka Opančina, Dimitris Platis, Maja Raičević, Žiga Iztok Remec, Barbka Repič Lampret, Alexey Savov, Anastasia Skouma, Aleksandar Sovtić, Iva Stoeva, Alma Toromanović, Domen Trampuž, Natalia Usurelu, Jelena Višekruna, Marios Vogazianos, Maximillian Zeyda, Mojca Žerjav Tanšek and Urh Grošelj Show full author list Hide full author list
2033	Birth Prevalence of Sickle Cell Disease in India: A Systematic Review and Meta-Analysis by Emine A. Rahiman, Rajendra Prasad Anne and Rajasekharan P. Warrier
1957	Clinical Experience of Timing Treatment in Newborns with Spinal Muscular Atrophy: A Call for Standardized Screening Practices in Italy by Ilaria Bitetti, Rosa Iannaccone, Giovanna Margiotta and Antonio Varone
1891	Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation by Ekaterina Y. Zakharova, Galina V. Baydakova, Polina V. Baranova, Darya Y. Aleksandrova, Olga A. Shchagina, Yulia S. Itkis, Natalya V. Milovanova, Tatyana S. Nagornova, Olga N. Ivanova, Yana D. Nazarenko, Sergey V. Voronin, Alena L. Chukhrova, Varvara A. Kadnikova, Ekaterina E. Lotnik, Nina V. Ryadninskaya, Aleksander V. Polyakov, Kirill V. Savostyanov, Fanil S. Bilalov, Alexander L. Koroteev, Dmitry Y. Trofimov, Tatyana A. Bairova, Gulnara N. Seitova, Sergei V. Mordanov, Svetlana A. Matulevich, Elena B. Nikolaeva and Sergey I. Kutsev Show full author list Hide full author list
1735	Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program by Madalina Cristina Leanca, Gelu Onose, Georgiana Nicolae, Elena Neagu, Daniela Vasile, Ecaterina Bercu, Oana Mirabela Balanescu, Andrei Capitanescu, Constantin Munteanu, Cristina Popescu and Andrada Mirea
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75433	Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment by Baba P. D. Inusa, Lewis L. Hsu, Neeraj Kohli, Anissa Patel, Kilali Ominu-Evbota, Kofi A. Anie and Wale Atoyebi
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17101	Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation by Meghan E. McGarry, Karen S. Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M. Christine Dorley, Steven Hicks, Clement L. Ren, Kathryn Tullis, Debra Freedenberg, Q. Eileen Wafford, Sarah E. Hempstead, Marissa A. Taylor, Albert Faro, Marci K. Sontag and Susanna A. McColley
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16470	Newborn Screening by Genomic Sequencing: Opportunities and Challenges by David Bick, Arzoo Ahmed, Dasha Deen, Alessandra Ferlini, Nicolas Garnier, Dalia Kasperaviciute, Mathilde Leblond, Amanda Pichini, Augusto Rendon, Aditi Satija, Alice Tuff-Lacey and Richard H. Scott
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4690	Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023) by Bradford L. Therrell, Carmencita D. Padilla, Gustavo J. C. Borrajo, Issam Khneisser, Peter C. J. I. Schielen, Jennifer Knight-Madden, Helen L. Malherbe and Marika Kase
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2201	Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation by Meghan E. McGarry, Karen S. Raraigh, Philip Farrell, Faith Shropshire, Karey Padding, Cambrey White, M. Christine Dorley, Steven Hicks, Clement L. Ren, Kathryn Tullis, Debra Freedenberg, Q. Eileen Wafford, Sarah E. Hempstead, Marissa A. Taylor, Albert Faro, Marci K. Sontag and Susanna A. McColley
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1111	Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States by Craig M. Zaidman, Cameron D. Crockett, Ethan Wedge, Grace Tabatabai and Natalie Goedeker
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797	Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions by Eva Thimm, Anselma Riederer, Jerry Vockley, Dries Dobbelaere, Monique Williams, Anita MacDonald, Katharina Dokoupil, Ulrich A. Schatz and Regina Ensenauer
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519	Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status—2026 by Bradford L. Therrell, Jr.
509	Analytical Validation of a Genomic Newborn Screening Workflow by Kristine Hovhannesyan, Laura Helou, Benoit Charloteaux, Valerie Jacquemin, Flavia Piazzon, Myriam Mni, Charlotte Flohimont, Corinne Fasquelle, Davood Mashhadizadeh, Tamara Dangouloff, Vincent Bours, Laurent Servais, Leonor Palmeira and François Boemer
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519	Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status—2026 by Bradford L. Therrell, Jr.
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384	Transitioning from Laboratory-Developed Tests to a Single Commercial Reagent Kit in a National Newborn Screening Program: Impact on Analytical Performance and Harmonization by Rachel S. Carling, Zoe J. Barclay, Sophie C. Ward, Marie Appleton, Robert Barski, Harry Benn, Kelly Chambers, Paul Coakley, Helena Kemp, Nicola Crabbe, Sarah Dowden, Toby Greenfield, Sarah L. Hogg, Saima Hussein, Rhiannon Marr, Oliver Parkes, Darren Powell, Tejswurree Ramgoolam, Joshua Ssali, Nazia Taj, Katherine Wright, Teresa H. Y. Wu and James R. Bonham Show full author list Hide full author list
383	Ethical and Clinical Boundaries in Genomics & Newborn Screening: A Brief Report from IPIC2025 by Raquel Yahyaoui, Lúcia Mamede, Martin Zach, James Taylor, Claire Booth, Rosalind Fisher, Věra Franková, Adli Ali, Johan Prevot, Martine Pergent, Roberta Anido de Pena and Elizabeth Rivers

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40114	Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment by Baba P. D. Inusa, Lewis L. Hsu, Neeraj Kohli, Anissa Patel, Kilali Ominu-Evbota, Kofi A. Anie and Wale Atoyebi
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6026	Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies: A Short Review on Classical Laboratory Methods—Isoelectric Focusing, HPLC, and Capillary Electrophoresis by Claudia Frömmel
5916	Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses by Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg, Jens Jørgensen, Erle Kristensen, Gunnþórunn Gunnarsdottir, Eirik Vangsøy Hansen, Janne Strand, Emma Lundman, Sacha Ferdinandusse, Cathrin Lytomt Salvador, Berit Woldseth, Yngve T. Bliksrud, Carlos Sagredo, Øyvind E. Olsen, Mona C. Berge, Anette Kjoshagen Trømborg, Anders Ziegler, Jin Hui Zhang, Linda Karlsen Sørgjerd, Mari Ytre-Arne, Silje Hogner, Siv M. Løvoll, Mette R. Kløvstad Olavsen, Dionne Navarrete, Hege J. Gaup, Rina Lilje, Rolf H. Zetterström, Asbjørg Stray-Pedersen, Terje Rootwelt, Piero Rinaldo, Alexander D. Rowe and Rolf D. Pettersen Show full author list Hide full author list
5850	Newborn Screening for Sickle Cell Disease in Europe by Yvonne Daniel, Jacques Elion, Bichr Allaf, Catherine Badens, Marelle J. Bouva, Ian Brincat, Elena Cela, Cathy Coppinger, Mariane de Montalembert, Béatrice Gulbis, Joan Henthorn, Olivier Ketelslegers, Corrina McMahon, Allison Streetly, Raffaella Colombatti and Stephan Lobitz

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