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Citations	Article
44	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
37	Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis by Audrey Tluczek, Anne L. Ersig and Shinhyo Lee
30	The Progress and Future of US Newborn Screening by Michael S. Watson, Michele A. Lloyd-Puryear and R. Rodney Howell
30	Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience by Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi and Anna Paola Uccheddu Show full author list Hide full author list
27	Towards Achieving Equity and Innovation in Newborn Screening across Europe by Jaka Sikonja, Urh Groselj, Maurizio Scarpa, Giancarlo la Marca, David Cheillan, Stefan Kölker, Rolf H. Zetterström, Viktor Kožich, Yann Le Cam, Gulcin Gumus, Valentina Bottarelli, Mirjam van der Burg, Eugenie Dekkers, Tadej Battelino, Johan Prevot, Peter C. J. I. Schielen and James R. Bonham
26	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	Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories by Michael H. Gelb, Khaja Basheeruddin, Alberto Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T. Turgeon, Frédérick M. Vaz, Li-yun Wang and Dietrich Matern Show full author list Hide full author list
22	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
21	Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency by Sophy T. F. Shih, Elena Keller, Veronica Wiley, Michelle A. Farrar, Melanie Wong and Georgina M. Chambers
16	Newborn Screening Is on a Collision Course with Public Health Ethics by Robert J. Currier

Citations	Article
26	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
15	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
13	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
12	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
11	Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation by Kristina Mikhalchuk, Olga Shchagina, Alena Chukhrova, Viktoria Zabnenkova, Polina Chausova, Nina Ryadninskaya, Dmitry Vlodavets, Sergei I. Kutsev and Alexander Polyakov
9	NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders by Kee Chan, Zhanzhi Hu, Lynn W. Bush, Heidi Cope, Ingrid A. Holm, Stephen F. Kingsmore, Kevin Wilhelm, Curt Scharfe and Amy Brower
9	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
9	Identifying Clinical Criteria for an Expanded Targeted Approach to Screening for Congenital Cytomegalovirus Infection—A Retrospective Study by Maya Heled Akiva, Hannah Hyde-De Sousa, Valerie Lamarre, Isabelle Boucoiran, Soren Gantt, Christian Renaud and Fatima Kakkar
8	Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand by Kalyarat Wilaiwongsathien, Duangrurdee Wattanasirichaigoon, Sasivimol Rattanasiri, Chanatpon Aonnuam, Chayada Tangshewinsirikul and Thipwimol Tim-Aroon
8	A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone by Allysa M. Dijkstra, Kimber Evers-van Vliet, M. Rebecca Heiner-Fokkema, Frank A. J. A. Bodewes, Dennis K. Bos, József Zsiros, Koen J. van Aerde, Klaas Koop, Francjan J. van Spronsen and Charlotte M. A. Lubout

Citations	Article
26	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
7	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
4	The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges by Alex J. Ashenden, Ayesha Chowdhury, Lucy T. Anastasi, Khoa Lam, Tomas Rozek, Enzo Ranieri, Carol Wai-Kwan Siu, Jovanka King, Emilie Mas and Karin S. Kassahn
4	Charting the Course: Towards a Comprehensive Newborn Screening Program in India by Seema Kapoor, Amit Kumar Gupta and B. K. Thelma
2	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
2	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
2	*Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen.* 2023, 9, 66 by Marelle J. Bouva, Rose E. Maase and Ruurd M. van Elburg**
2	Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1 by Barbra Charina V. Cavan, Leniza G. de Castro-Hamoy, Conchita G. Abarquez, Ebner Bon G. Maceda and Maria Melanie Liberty B. Alcausin
2	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
2	Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil by Nathalia Teixeira Palla Braga, Jáderson Mateus Vilela Antunes, Enrico Antônio Colosimo, Vera Maria Alves Dias, José Nélio Januário and Ivani Novato Silva

Citations	Article
1	DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified by Tsz Sum Wong, Sheila Suet Na Wong, Anne Mei Kwun Kwok, Helen Wu, Hiu Fung Law, Shirley Lam, Matthew Chun Wing Yeung, Toby Chun Hei Chan, Gordon Leung, Chloe Miu Mak, Kiran Moti Belaramani and Cheuk Wing Fung
1	Cystic Fibrosis Screening Efficacy and Seasonal Variation in California: 15-Year Comparison of IRT Cutoffs Versus Daily Percentile for First-Tier Testing by Stanley Sciortino, Steve Graham, Tracey Bishop, Jamie Matteson, Sarah Carter, Cindy H. Wu and Rajesh Sharma
1	Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy by Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Christian Loro, Elena Porcù, Leonardo Salviati, Alessandro P. Burlina and Alberto B. Burlina
1	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
1	Parent Reports of Developmental Service Utilization After Newborn Screening by Elizabeth Reynolds, Sarah Nelson Potter, Samantha Scott and Donald B. Bailey
1	Non-Uptake of Newborn Screening in Planned Homebirth Is Associated with Preventive Health Practices for Infants: A Retrospective Case-Control Study by Chen Stein-Zamir, Hanna Shoob, Sandra Katan, Gina Verbov and Shlomo Almashanu

Citations	Article
168	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
117	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
93	*Newborn Screening for CF across the Globe—Where Is It Worthwhile?* by Virginie Scotet, Hector Gutierrez and Philip M. Farrell
79	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	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
64	Thalassemias: An Overview by Michael Angastiniotis and Stephan Lobitz
61	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
59	Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders by Stuart J. Moat, Roanna S. George and Rachel S. Carling
55	Newborn Screening for Lysosomal Storage Diseases: Methodologies, Screen Positive Rates, Normalization of Datasets, Second-Tier Tests, and Post-Analysis Tools by Michael H. Gelb
53	Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy by Alberto B. Burlina, Giulia Polo, Laura Rubert, Daniela Gueraldi, Chiara Cazzorla, Giovanni Duro, Leonardo Salviati and Alessandro P. Burlina

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15520	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
12733	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
8149	Newborn Screening Knowledge, Attitudes and Practices among Obstetrics-Gynecology Residents, Pediatric Residents, and Newborn Screening Nurses in a Tertiary Government Hospital in the Philippines during the COVID-19 Pandemic by Patrick Jose D. Padilla and Eileen M. Manalo
7723	The Progress and Future of US Newborn Screening by Michael S. Watson, Michele A. Lloyd-Puryear and R. Rodney Howell
7398	Towards Achieving Equity and Innovation in Newborn Screening across Europe by Jaka Sikonja, Urh Groselj, Maurizio Scarpa, Giancarlo la Marca, David Cheillan, Stefan Kölker, Rolf H. Zetterström, Viktor Kožich, Yann Le Cam, Gulcin Gumus, Valentina Bottarelli, Mirjam van der Burg, Eugenie Dekkers, Tadej Battelino, Johan Prevot, Peter C. J. I. Schielen and James R. Bonham
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6811	2023 APHL/ISNS Newborn Screening Symposium by Richard S. Olney, James R. Bonham, Peter C. J. I. Schielen, Dara Slavin and Jelili Ojodu
6762	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
6507	Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience by Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi and Anna Paola Uccheddu Show full author list Hide full author list
5428	Newborn Screening Long-Term Follow-Up Clinics (Continuity Clinics) in the Philippines during the COVID-19 Pandemic: Continuing Quality Patient Care by Ebner Bon G. Maceda, Michelle E. Abadingo, Karen Asuncion R. Panol, Frederick David E. Beltran, Ivy Rose C. Valdez-Acosta, Grandelee D. Taquiqui, Sharon B. Gawigawen, Maria Victoria L. Macalino, Laura Maria Soledad M. Aguirre-Aguinaldo, Marive A. Flores-Declaro, Karen June V. Ventilacion, Ma. Rita Anna Salve R. Boligao, Nancy G. Honor, Mirasol S. Ellong, Rona D. Ocho-Ortencio, Genelynne J. Beley, Maria Christina N. Bondoc-Eran, Bradford L. Therrell, Jr. and Carmencita D. Padilla

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15520	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
6811	2023 APHL/ISNS Newborn Screening Symposium by Richard S. Olney, James R. Bonham, Peter C. J. I. Schielen, Dara Slavin and Jelili Ojodu
5146	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
3932	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
3885	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
3667	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
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15520	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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3218	Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK by Karen Bean, Simon A. Jones, Anupam Chakrapani, Suresh Vijay, Teresa Wu, Heather Church, Charlotte Chanson, Andrew Olaye, Beckley Miller, Ivar Jensen and Francis Pang
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2830	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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1412	Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy by Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Christian Loro, Elena Porcù, Leonardo Salviati, Alessandro P. Burlina and Alberto B. Burlina
1394	DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified by Tsz Sum Wong, Sheila Suet Na Wong, Anne Mei Kwun Kwok, Helen Wu, Hiu Fung Law, Shirley Lam, Matthew Chun Wing Yeung, Toby Chun Hei Chan, Gordon Leung, Chloe Miu Mak, Kiran Moti Belaramani and Cheuk Wing Fung
1306	Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening by Céline Renoux, Estelle Roland, Séverine Ruet, Sarah Zouaghi, Marie Michel, Philippe Joly, Cécile Feray, Fanny Zhao, Déborah Gavanier, Pascal Gaucherand, Fanny Roumieu, Giovanna Cannas, Salima Merazga, Philippe Connes, Gilles Renom, Jérôme Massardier and David Cheillan
1299	Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population by Diogo Rodrigues, Ana Marcão, Lurdes Lopes, Ana Ventura, Teresa Faria, Anabela Ferrão, Carolina Gonçalves, Paula Kjöllerström, Ana Castro, Sofia Fraga, Marta Almeida, Tabita Maia, João Gomes, Ana Lachado, Isabel Guerra, Fátima Ferreira, Fernanda Trigo, Celeste Bento and Laura Vilarinho
1257	Cystic Fibrosis Screening Efficacy and Seasonal Variation in California: 15-Year Comparison of IRT Cutoffs Versus Daily Percentile for First-Tier Testing by Stanley Sciortino, Steve Graham, Tracey Bishop, Jamie Matteson, Sarah Carter, Cindy H. Wu and Rajesh Sharma

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54568	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
20094	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
19127	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
15520	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
13539	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
12733	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
12464	Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management by Morna Dorsey and Jennifer Puck
12241	Aspects of Newborn Screening in Isovaleric Acidemia by Andrea Schlune, Anselma Riederer, Ertan Mayatepek and Regina Ensenauer
12210	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
11685	Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy by Patrice K. Held, Ian M. Bird and Natasha L. Heather

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3134	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
2624	The Progress and Future of US Newborn Screening by Michael S. Watson, Michele A. Lloyd-Puryear and R. Rodney Howell
2369	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
1915	Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories by Michael H. Gelb, Khaja Basheeruddin, Alberto Burlina, Hsiao-Jan Chen, Yin-Hsiu Chien, George Dizikes, Christine Dorley, Roberto Giugliani, Amy Hietala, Xinying Hong, Shu-Min Kao, Hamid Khaledi, Tracy Klug, Francyne Kubaski, Hsuan-Chieh Liao, Monica Martin, Adrienne Manning, Joseph Orsini, Yin Peng, Enzo Ranieri, Andreas Rohrwasser, Nicolas Szabo-Fresnais, Coleman T. Turgeon, Frédérick M. Vaz, Li-yun Wang and Dietrich Matern Show full author list Hide full author list
1913	Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency by Sophy T. F. Shih, Elena Keller, Veronica Wiley, Michelle A. Farrar, Melanie Wong and Georgina M. Chambers
1792	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
1698	Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience by Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi and Anna Paola Uccheddu Show full author list Hide full author list
1509	Towards Achieving Equity and Innovation in Newborn Screening across Europe by Jaka Sikonja, Urh Groselj, Maurizio Scarpa, Giancarlo la Marca, David Cheillan, Stefan Kölker, Rolf H. Zetterström, Viktor Kožich, Yann Le Cam, Gulcin Gumus, Valentina Bottarelli, Mirjam van der Burg, Eugenie Dekkers, Tadej Battelino, Johan Prevot, Peter C. J. I. Schielen and James R. Bonham
1500	Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis by Audrey Tluczek, Anne L. Ersig and Shinhyo Lee
1390	Newborn Screening Is on a Collision Course with Public Health Ethics by Robert J. Currier

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2369	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
1102	Comparison of Overall Sensitivity and Specificity across Different Newborn Screening Algorithms for Congenital Cytomegalovirus by Mark R. Schleiss, Lori Panther, Sandeep Basnet, Meklit Workneh and John Diaz-Decaro
1071	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
1048	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
1031	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
991	An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders by Wendy K. Chung, Stephen M. Kanne and Zhanzhi Hu
960	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
933	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
923	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
884	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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2369	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
960	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
884	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
883	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
845	The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges by Alex J. Ashenden, Ayesha Chowdhury, Lucy T. Anastasi, Khoa Lam, Tomas Rozek, Enzo Ranieri, Carol Wai-Kwan Siu, Jovanka King, Emilie Mas and Karin S. Kassahn
719	Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK by Karen Bean, Simon A. Jones, Anupam Chakrapani, Suresh Vijay, Teresa Wu, Heather Church, Charlotte Chanson, Andrew Olaye, Beckley Miller, Ivar Jensen and Francis Pang
709	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
682	A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned by Kristen N. Wong, Melissa McIntyre, Sabina Cook, Kim Hart, Amelia Wilson, Sarah Moldt, Andreas Rohrwasser and Russell J. Butterfield
676	Managing Newborn Screening Repeat Collections for Sick and Preterm Neonates by Ronda F. Greaves, Jo-Ann Northfield, Lauren Cross, Nazha Mawad, Thanh Nguyen, Maggie Tan, Michele A. O’Connell and James Pitt
659	Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening by Yvonne Kellar-Guenther, Lauren Barringer, Katherine Raboin, Ginger Nichols, Kathy Y. F. Chou, Kathy Nguyen, Amy R. Burke, Sandy Fawbush, Joyal B. Meyer, Morna Dorsey, Amy Brower, Kee Chan, Mei Lietsch, Jennifer Taylor, Michele Caggana and Marci K. Sontag

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600	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
519	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
453	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
449	Oral and Poster Abstracts of the 13th ISNS European Regional Meeting by Kate Hall, Peter C. J. I. Schielen and Dimitris Platis
447	Cystic Fibrosis Screening Efficacy and Seasonal Variation in California: 15-Year Comparison of IRT Cutoffs Versus Daily Percentile for First-Tier Testing by Stanley Sciortino, Steve Graham, Tracey Bishop, Jamie Matteson, Sarah Carter, Cindy H. Wu and Rajesh Sharma
415	DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified by Tsz Sum Wong, Sheila Suet Na Wong, Anne Mei Kwun Kwok, Helen Wu, Hiu Fung Law, Shirley Lam, Matthew Chun Wing Yeung, Toby Chun Hei Chan, Gordon Leung, Chloe Miu Mak, Kiran Moti Belaramani and Cheuk Wing Fung
406	Evaluation of a New Tandem Mass Spectrometry Method for Sickle Cell Disease Newborn Screening by Céline Renoux, Estelle Roland, Séverine Ruet, Sarah Zouaghi, Marie Michel, Philippe Joly, Cécile Feray, Fanny Zhao, Déborah Gavanier, Pascal Gaucherand, Fanny Roumieu, Giovanna Cannas, Salima Merazga, Philippe Connes, Gilles Renom, Jérôme Massardier and David Cheillan
406	Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China by Liang Ye, Yinhong Zhang, Jizhen Feng, Cidan Huang, Xiaohua Wang, Lianshu Han, Yonglan Huang, Hui Zou, Baosheng Zhu and Jingkun Miao
397	N-Acetyltyrosine as a Biomarker of Parenteral Nutrition Administration in First-Tier Newborn Screening Assays by C. Austin Pickens, Samyukta Sah, Rahul Chandrappa, Samantha L. Isenberg, Elya R. Courtney, Timothy Lim, Donald H. Chace, Rachel Lee, Carla Cuthbert and Konstantinos Petritis
379	Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy by Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Christian Loro, Elena Porcù, Leonardo Salviati, Alessandro P. Burlina and Alberto B. Burlina

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37927	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
15534	Thalassemias: An Overview by Michael Angastiniotis and Stephan Lobitz
6875	Reliability of Neonatal Screening Results by Maria Knapkova, Kate Hall and Gerard Loeber
6832	Philippine Performance Evaluation and Assessment Scheme (PPEAS): Experiences in Newborn Screening System Quality Improvement by Carmencita D. Padilla, Bradford L. Therrell, Karen Asuncion R. Panol, Riza Concordia N. Suarez, Ma. Elouisa L. Reyes, Charity M. Jomento, Ebner Bon G. Maceda, Jovy Ann C. Lising, Frederick David E. Beltran and Lita L. Orbillo
6819	ISNS 9th International Symposium, The Hague, The Netherlands, September 11–14, 2016 by Gerard Loeber
6593	Universal Implementation of Newborn Screening in India by Thomas Mookken
5884	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
5523	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
5434	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
5246	Newborn Screening for Severe Combined Immunodeficiency-A History of the TREC Assay by Mary T. Bausch-Jurken, James W. Verbsky and John M. Routes

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