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Citations	Article
84	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
34	Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm by Giancarlo la Marca, Rachel. S. Carling, Stuart. J. Moat, Raquel Yahyaoui, Enzo Ranieri, James. R. Bonham and Peter. C. J. I. Schielen
28	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
27	Newborn Screening for Fabry Disease: Current Status of Knowledge by Vincenza Gragnaniello, Alessandro P. Burlina, Anna Commone, Daniela Gueraldi, Andrea Puma, Elena Porcù, Maria Stornaiuolo, Chiara Cazzorla and Alberto B. Burlina
24	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
23	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
21	Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018 by Sikha Singh, Jelili Ojodu, Alex R. Kemper, Wendy K. K. Lam and Scott D. Grosse
19	Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations by Jovanka R. King, Kalle Grill and Lennart Hammarström
18	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
17	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

Citations	Article
84	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
24	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
18	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
17	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
16	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
15	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
13	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
11	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
9	Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy by Gea Kiewiet, Dineke Westra, Eddy N. de Boer, Emma van Berkel, Tom G. J. Hofste, Martine van Zweeden, Ronny C. Derks, Nico F. A. Leijsten, Martina H. A. Ruiterkamp-Versteeg, Bart Charbon, Lennart Johansson, Janneke Bos-Kruizinga, Inge J. Veenstra, Monique G. M. de Sain-van der Velden, Els Voorhoeve, M. Rebecca Heiner-Fokkema, Francjan van Spronsen, Birgit Sikkema-Raddatz and Marcel Nelen
9	Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality Assurance: Results from the ENHANCE Study by Najibah Galadanci, Shannon Phillips, Alyssa Schlenz, Nataliya Ivankova and Julie Kanter

Citations	Article
16	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
5	Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden by Chiara Cazzorla, Vincenza Gragnaniello, Giacomo Gaiga, Daniela Gueraldi, Andrea Puma, Christian Loro, Giada Benetti, Rossana Schiavo, Elena Porcù, Alessandro P. Burlina and Alberto B. Burlina
3	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
3	Expanded Newborn Screening in Italy: The First Report of Lombardy Region by Clarissa Berardo, Alessandra Vasco, Alessia Mauri, Simona Lucchi, Laura Cappelletti, Laura Saielli, Manuela Rizzetto, Davide Biganzoli, Cristina Montrasio, Diana Postorivo, Michela Perrone Donnorso, Elisa Pratiffi, Andrea Meta, Stephana Carelli, Alessandro Amorosi, Sabrina Paci, Graziella Cefalo, Francesca Furlan, Francesca Menni, Serena Gasperini, Viola Crescitelli, Giuseppe Banderali, Gianvincenzo Zuccotti, Luisella Alberti and Cristina Cereda Show full author list Hide full author list
3	Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening by Maria Jose de Castro Lopez, Fiona J. White, Victoria Holmes, Jane Roberts, Teresa H. Y. Wu, James A. Cooper, Heather J. Church, Gemma Petts, Robert F. Wynn, Simon A. Jones and Arunabha Ghosh
3	Clinical Utility of the Addition of Molecular Genetic Testing to Newborn Screening for Hemoglobinopathies for Confirmation of Alpha-Thalassemia Trait by Lisa M. Shook, Deidra Haygood and Charles T. Quinn
2	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
2	Analysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening Program by Lacey Vermette, Jon Washburn and Tracy Klug
2	Historical Appreciation of World Health Organization’s Public Health Paper-34: Principles and Practice of Screening for Disease, by Max Wilson and Gunnar Jungner by Peter C. J. I. Schielen
2	Prevalence and Mutation Analysis of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China by Haili Hu, Qingqing Ma, Yong Huang, Wangsheng Song, Hongyu Xu, Peng Zhu and Yan Wang

Citations	Article
2	Prevalence and Mutation Analysis of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China by Haili Hu, Qingqing Ma, Yong Huang, Wangsheng Song, Hongyu Xu, Peng Zhu and Yan Wang
1	Communication of an Abnormal Metabolic Newborn Screening Result in the Netherlands: A Qualitative Exploratory Study of the General Practitioner’s Perspective by Sietske Haitjema, Charlotte M. A. Lubout, Justine H. M. Zijlstra, Rendelien K. Verschoof-Puite and Francjan J. van Spronsen
1	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
1	Optimization of the Performance of Newborn Screening for X-Linked Adrenoleukodystrophy by Flow Injection Analysis Tandem Mass Spectrometry by Chengfang Tang, Minyi Tan, Yanna Cai, Sichi Liu, Ting Xie, Xiang Jiang, Li Tao, Yonglan Huang and Fang Tang
1	Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population by Fook-Choe Cheah, Sharifah Azween Syed Omar, Jasmine Lee, Zheng Jiet Ang, Anu Ratha Gopal, Wan Nurulhuda Wan Md Zin, Beng Kwang Ng, Shu-Chuan Chiang and Yin-Hsiu Chien
1	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
1	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
1	Challenges Faced by Healthcare Professionals in Screening Newborns for Congenital Heart Defects in Pakistan by Ijaz ul Haq, Muhammad Imran Khan, Amir Muhammad, Majid Ali, Xiaojing Hu and Guo-Ying Huang
1	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
1	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

Citations	Article
211	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
174	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
115	*Newborn Screening for CF across the Globe—Where Is It Worthwhile?* by Virginie Scotet, Hector Gutierrez and Philip M. Farrell
90	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
85	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
85	Thalassemias: An Overview by Michael Angastiniotis and Stephan Lobitz
84	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
70	Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders by Stuart J. Moat, Roanna S. George and Rachel S. Carling
63	Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs by Peter C. J. I. Schielen, Evelien A. Kemper and Michael H. Gelb
63	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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31944	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
13489	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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9871	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
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7389	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
6406	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
6139	Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures by Birgit Odenwald, Inken Brockow, Marianne Hanauer, Anja Lüders and Uta Nennstiel
5835	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

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31944	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
13489	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
9871	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
7389	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
6406	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
5835	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
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5321	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
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5110	Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey by Kiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau, Matthew Chun Wing Yeung, Anne Mei Kwun Kwok, Ivan Fai Man Lo, Terry Hiu Fung Law, Helen Wu, Sheila Suet Na Wong, Shirley Wai Lam, Gladys Ha Yin Ha, Toby Pui Yee Lau, Tsz Ki Wong, Venus Wai Ching Or, Rosanna Ming Sum Wong, Wong Lap Ming, Jasmine Chi Kwan Chow, Eric Kin Cheong Yau, Antony Fu, Josephine Shuk Ching Chong, Ho Chung Yau, Grace Wing Kit Poon, Kwok Leung Ng, Kwong Tat Chan, Yuen Yu Lam, Joannie Hui, Chloe Miu Mak and Cheuk Wing Fung Show full author list Hide full author list

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13489	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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3503	Expanded Newborn Screening in Italy: The First Report of Lombardy Region by Clarissa Berardo, Alessandra Vasco, Alessia Mauri, Simona Lucchi, Laura Cappelletti, Laura Saielli, Manuela Rizzetto, Davide Biganzoli, Cristina Montrasio, Diana Postorivo, Michela Perrone Donnorso, Elisa Pratiffi, Andrea Meta, Stephana Carelli, Alessandro Amorosi, Sabrina Paci, Graziella Cefalo, Francesca Furlan, Francesca Menni, Serena Gasperini, Viola Crescitelli, Giuseppe Banderali, Gianvincenzo Zuccotti, Luisella Alberti and Cristina Cereda Show full author list Hide full author list
3318	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
3173	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
3145	Qatar’s National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes by Tala Jamaleddin, Karen El-Akouri, Sumaya Abiib, Rola Mitri, Mamatha Ramaswamy, Sara Musa, Rehab Ali, Noora Shahbeck, Hilal Al Rifai, Ghassan Abdoh, Tawfeg Ben-Omran, Osama Y. Al-Dirbashi and Mashael Al-Shafai
3039	Historical Appreciation of World Health Organization’s Public Health Paper-34: Principles and Practice of Screening for Disease, by Max Wilson and Gunnar Jungner by Peter C. J. I. Schielen

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3318	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
3173	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
3033	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
2948	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
2712	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
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2393	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
2241	Early Screening for Developmental Dysplasia of the Hip: Sonographic Reference Values, Risk Factors, and Treatment Considerations by Bjoern Vogt, Stella S. Tureck, Georg Gosheger, Adrien Frommer, Andrea Laufer, Henning Tretow, Robert Roedl and Gregor Toporowski
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67548	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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21767	Point-of-Care Testing for G6PD Deficiency: Opportunities for Screening by Athena Anderle, Germana Bancone, Gonzalo J. Domingo, Emily Gerth-Guyette, Sampa Pal and Ari W. Satyagraha
15646	Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy by Patrice K. Held, Ian M. Bird and Natasha L. Heather
15021	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
14799	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
14544	Aspects of Newborn Screening in Isovaleric Acidemia by Andrea Schlune, Anselma Riederer, Ertan Mayatepek and Regina Ensenauer
14248	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
14084	Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders by Stuart J. Moat, Roanna S. George and Rachel S. Carling

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3957	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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3957	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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1223	Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy by Gea Kiewiet, Dineke Westra, Eddy N. de Boer, Emma van Berkel, Tom G. J. Hofste, Martine van Zweeden, Ronny C. Derks, Nico F. A. Leijsten, Martina H. A. Ruiterkamp-Versteeg, Bart Charbon, Lennart Johansson, Janneke Bos-Kruizinga, Inge J. Veenstra, Monique G. M. de Sain-van der Velden, Els Voorhoeve, M. Rebecca Heiner-Fokkema, Francjan van Spronsen, Birgit Sikkema-Raddatz and Marcel Nelen
1170	Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey by Kiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau, Matthew Chun Wing Yeung, Anne Mei Kwun Kwok, Ivan Fai Man Lo, Terry Hiu Fung Law, Helen Wu, Sheila Suet Na Wong, Shirley Wai Lam, Gladys Ha Yin Ha, Toby Pui Yee Lau, Tsz Ki Wong, Venus Wai Ching Or, Rosanna Ming Sum Wong, Wong Lap Ming, Jasmine Chi Kwan Chow, Eric Kin Cheong Yau, Antony Fu, Josephine Shuk Ching Chong, Ho Chung Yau, Grace Wing Kit Poon, Kwok Leung Ng, Kwong Tat Chan, Yuen Yu Lam, Joannie Hui, Chloe Miu Mak and Cheuk Wing Fung Show full author list Hide full author list

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1617	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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471	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
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39423	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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5793	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
5783	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
5755	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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