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Most Cited & Viewed Papers
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Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021
by
Kshea Hale, Jelili Ojodu and Sikha Singh
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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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Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis
by
Audrey Tluczek, Anne L. Ersig and Shinhyo Lee
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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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Implementation of Hospital-Based Supplemental Duchenne Muscular Dystrophy Newborn Screening (sDMDNBS): A Pathway to Broadening Adoption
by
Richard B. Parad, Yvonne Sheldon and Arindam Bhattacharjee
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Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan
by
Tomokazu Kimizu, Shinobu Ida, Kentaro Okamoto, Hiroyuki Awano, Emma Tabe Eko Niba, Yogik Onky Silvana Wijaya, Shin Okazaki, Hideki Shimomura, Tomoko Lee, Koji Tominaga, Shin Nabatame, Toshio Saito, Takashi Hamazaki, Norio Sakai, Kayoko Saito, Haruo Shintaku, Kandai Nozu, Yasuhiro Takeshima, Kazumoto Iijima, Hisahide Nishio and Masakazu Shinoharaadd
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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 Ucchedduadd
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Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead
by
Abigail Veldman, Mensiena B. G. Kiewiet, Margaretha Rebecca Heiner-Fokkema, Marcel R. Nelen, Richard J. Sinke, Birgit Sikkema-Raddatz, Els Voorhoeve, Dineke Westra, Martijn E. T. Dollé, Peter C. J. I. Schielen and Francjan J. van Spronsen
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Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations
by
Patrice K. Held, Emily Singh and Jessica Scott Schwoerer
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The Progress and Future of US Newborn Screening
by
Michael S. Watson, Michele A. Lloyd-Puryear and R. Rodney Howell
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Citations | Article |
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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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Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis
by
Audrey Tluczek, Anne L. Ersig and Shinhyo Lee
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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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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 Ucchedduadd
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The Progress and Future of US Newborn Screening
by
Michael S. Watson, Michele A. Lloyd-Puryear and R. Rodney Howell
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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 Maternadd
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Newborn Screening Is on a Collision Course with Public Health Ethics
by
Robert J. Currier
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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
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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
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Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors
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Martin Kharrazi, Charlene Sacramento, Anne Marie Comeau, Jaime E. Hale, Michele Caggana, Denise M. Kay, Rachel Lee, Brendan Reilly, John D. Thompson, Samya Z. Nasr, Mary Kleyn, Gary Hoffman, Mei W. Baker, Colleen Clarke, Cheryl L. Harris, M. Christine Dorley, Hilary Fryman, Ankit Sutaria, Amy Hietala, Holly Winslow, Holly Richards and Bradford L. Therrelladd
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Citations | Article |
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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
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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
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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
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The Psychosocial Impact of Congenital Cytomegalovirus on Caregivers and Families: Lived Experiences and Review of the Literature
by
Michelle P. Zappas, Amanda Devereaux and Megan H. Pesch
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Comparison between Gibson–Cooke and Macroduct Methods in the Cystic Fibrosis Neonatal Screening Program and in Subjects Who Are Cystic Fibrosis Screen-Positive with an Inconclusive Diagnosis
by
Daniela Dolce, Cristina Fevola, Erica Camera, Tommaso Orioli, Ersilia Lucenteforte, Marco Andrea Malanima, Giovanni Taccetti and Vito Terlizzi
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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
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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
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Attitudes of Patients with Adrenoleukodystrophy towards Sex-Specific Newborn Screening
by
Hemmo A. F. Yska, Lidewij Henneman, Rinse W. Barendsen, Marc Engelen and Stephan Kemp
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Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project
by
Farshad Niri, Jessie Nicholls, Kelly Baptista Wyatt, Christine Walker, Tiffany Price, Rhonda Kelln, Stacey Hume, Jillian Parboosingh, Margaret Lilley, Hanna Kolski, Ross Ridsdale, Andrew Muranyi, Jean K. Mah and Dennis E. Bulman
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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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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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History of Neonatal Screening of Congenital Hypothyroidism in Portugal
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Maria José Costeira, Patrício Costa, Susana Roque, Ivone Carvalho, Laura Vilarinho and Joana Almeida Palha
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Stakeholder Views of the Proposed Introduction of Next Generation Sequencing into the Cystic Fibrosis Screening Protocol in England
by
Pru Holder, Corinna C. Clark, Louise Moody, Felicity K. Boardman, Jacqui Cowlard, Lorna Allen, Claire Walter, James R. Bonham and Jane Chudleigh
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Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening—Towards a Consistent Definition and Data Acquisition
by
Anne Munck, Kevin W. Southern, Jared Murphy, Karin M. de Winter-de Groot, Silvia Gartner, Bülent Karadag, Nataliya Kashirskaya, Barry Linnane, Marijke Proesmans, Dorota Sands, Olaf Sommerburg, Carlo Castellani and Jürg Barben
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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
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Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements
by
Dietrich Matern, Khaja Basheeruddin, Tracy L. Klug, Gwendolyn McKee, Patricia U. Edge, Patricia L. Hall, Joanne Kurtzberg and Joseph J. Orsini
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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
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Droplet Digital PCR (ddPCR) Does Not Enhance the Sensitivity of Detection of Cytomegalovirus (CMV) DNA in Newborn Dried Blood Spots Evaluated in the Context of Newborn Congenital CMV (cCMV) Screening
by
Nelmary Hernandez-Alvarado, Craig J. Bierle and Mark R. Schleiss
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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. Schielenadd
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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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Newborn Screening for CF across the Globe—Where Is It Worthwhile?
by
Virginie Scotet, Hector Gutierrez and Philip M. Farrell
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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
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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
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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
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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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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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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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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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Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines
by
Carmencita D. Padilla, Bradford L. Therrell, Jr., Maria Melanie Liberty B. Alcausin, Reynaldo C. de Castro, Jr., Maria Beatriz P. Gepte, Ma. Elouisa L. Reyes, Charity M. Jomento, Riza Concordia N. Suarez, Ebner Bon G. Maceda, Conchita G. Abarquez, J. Edgar Winston C. Posecion, Alma P. Andal, Anna Lea G. Elizaga, Bernadette C. Halili-Mendoza, Maria Paz Virginia K. Otayza and Carolyn C. Hoppe
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Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry
by
Carmencita D. Padilla, Bradford L. Therrell, Jr., Maria Melanie Liberty B. Alcausin, Mary Anne D. Chiong, Mary Ann R. Abacan, Ma. Elouisa L. Reyes, Charity M. Jomento, Maria Truda T. Dizon-Escoreal, Margarita Aziza E. Canlas, Michelle E. Abadingo, J. Edgar Winston C. Posecion, Conchita G. Abarquez, Alma P. Andal, Anna Lea G. Elizaga, Bernadette C. Halili-Mendoza, Maria Paz Virginia K. Otayza and David S. Millington
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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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The Progress and Future of US Newborn Screening
by
Michael S. Watson, Michele A. Lloyd-Puryear and R. Rodney Howell
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Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan
by
Tomokazu Kimizu, Shinobu Ida, Kentaro Okamoto, Hiroyuki Awano, Emma Tabe Eko Niba, Yogik Onky Silvana Wijaya, Shin Okazaki, Hideki Shimomura, Tomoko Lee, Koji Tominaga, Shin Nabatame, Toshio Saito, Takashi Hamazaki, Norio Sakai, Kayoko Saito, Haruo Shintaku, Kandai Nozu, Yasuhiro Takeshima, Kazumoto Iijima, Hisahide Nishio and Masakazu Shinoharaadd
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Province-Wide Stool Color Card Screening for Biliary Atresia in Lower-Saxony: Experiences with Passive Distribution Strategies and Results
by
Omid Madadi-Sanjani, Joachim F. Kuebler, Marie Uecker, Eva-Doreen Pfister, Ulrich Baumann, Berit Kunze-Hullmann, Jochen Blaser, Thomas Buck and Claus Petersen
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Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead
by
Abigail Veldman, Mensiena B. G. Kiewiet, Margaretha Rebecca Heiner-Fokkema, Marcel R. Nelen, Richard J. Sinke, Birgit Sikkema-Raddatz, Els Voorhoeve, Dineke Westra, Martijn E. T. Dollé, Peter C. J. I. Schielen and Francjan J. van Spronsen
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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 Ucchedduadd
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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 Maternadd
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Views | Article |
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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
|
|
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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|
The Progress and Future of US Newborn Screening
by
Michael S. Watson, Michele A. Lloyd-Puryear and R. Rodney Howell
|
|
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 Ucchedduadd
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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 Maternadd
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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
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Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
by
Trine Tangeraas, Ulf W. Ljungblad, Elma Lutvica, Erle Kristensen, Alex D. Rowe, Anne-Lise Bjørke-Monsen, Terje Rootwelt-Revheim, Ingjerd Sæves and Rolf D. Pettersen
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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
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Introducing Newborn Screening for Severe Combined Immunodeficiency—The New Zealand Experience
by
Natasha Heather, Mark de Hora, Shannon Brothers, Pippa Grainger, Detlef Knoll and Dianne Webster
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2023 APHL/ISNS Newborn Screening Symposium
by
Richard S. Olney, James R. Bonham, Peter C. J. I. Schielen, Dara Slavin and Jelili Ojodu
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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
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The Psychosocial Impact of Congenital Cytomegalovirus on Caregivers and Families: Lived Experiences and Review of the Literature
by
Michelle P. Zappas, Amanda Devereaux and Megan H. Pesch
|
|
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
|
|
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
|
|
Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project
by
Farshad Niri, Jessie Nicholls, Kelly Baptista Wyatt, Christine Walker, Tiffany Price, Rhonda Kelln, Stacey Hume, Jillian Parboosingh, Margaret Lilley, Hanna Kolski, Ross Ridsdale, Andrew Muranyi, Jean K. Mah and Dennis E. Bulman
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Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots
by
Allysa M. Dijkstra, Pim de Blaauw, Willemijn J. van Rijt, Hanneke Renting, Ronald G. H. J. Maatman, Francjan J. van Spronsen, Rose E. Maase, Peter C. J. I. Schielen, Terry G. J. Derks and M. Rebecca Heiner-Fokkema
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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
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Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen
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David J. McBride, Claire Fielding, Taksina Newington, Alexandra Vatsiou, Harry Fischl, Maya Bajracharya, Vicki S. Thomson, Louise J. Fraser, Pauline A. Fujita, Jennifer Becq, Zoya Kingsbury, Mark T. Ross, Stuart J. Moat and Sian Morgan
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Information and Parental Consent for French Neonatal Screening: A Qualitative Study on Parental Opinion
by
Julia Pinel, Amandine Bellanger, Carole Jamet and Caroline Moreau
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Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements
by
Dietrich Matern, Khaja Basheeruddin, Tracy L. Klug, Gwendolyn McKee, Patricia U. Edge, Patricia L. Hall, Joanne Kurtzberg and Joseph J. Orsini
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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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Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population
by
Amy Gaviglio, Michael Lasarev, Ruthanne Sheller, Sikha Singh and Mei Baker
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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
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Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS
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Maria Miguel Gonçalves, Ana Marcão, Carmen Sousa, Célia Nogueira, Helena Fonseca, Hugo Rocha and Laura Vilarinho
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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
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Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective
by
Julia Prinzi, Marzia Pasquali, Judith A. Hobert, Rachel Palmquist, Kristen N. Wong, Stephanie Francis and Irene De Biase
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Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities
by
Zohreh Talebizadeh, Valerie Hu, Monir Shababi and Amy Brower
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Droplet Digital PCR (ddPCR) Does Not Enhance the Sensitivity of Detection of Cytomegalovirus (CMV) DNA in Newborn Dried Blood Spots Evaluated in the Context of Newborn Congenital CMV (cCMV) Screening
by
Nelmary Hernandez-Alvarado, Craig J. Bierle and Mark R. Schleiss
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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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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
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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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Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management
by
Morna Dorsey and Jennifer Puck
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Aspects of Newborn Screening in Isovaleric Acidemia
by
Andrea Schlune, Anselma Riederer, Ertan Mayatepek and Regina Ensenauer
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Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily
by
MariaAnna Messina, Concetta Meli, Federica Raudino, Annarita Pittalá, Alessia Arena, Rita Barone, Fortunata Giuffrida, Riccardo Iacobacci, Vera Muccilli, Giovanni Sorge and Agata Fiumara
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Mini-Review: Challenges in Newborn Screening for Urea Cycle Disorders
by
Véronique Rüfenacht and Johannes Häberle
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The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention: Thirty-Five Year Experience Assuring Newborn Screening Laboratory Quality
by
Víctor R. De Jesús, Joanne V. Mei, Suzanne K. Cordovado and Carla D. Cuthbert
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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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Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry
by
Carmencita D. Padilla, Bradford L. Therrell, Jr., Maria Melanie Liberty B. Alcausin, Mary Anne D. Chiong, Mary Ann R. Abacan, Ma. Elouisa L. Reyes, Charity M. Jomento, Maria Truda T. Dizon-Escoreal, Margarita Aziza E. Canlas, Michelle E. Abadingo, J. Edgar Winston C. Posecion, Conchita G. Abarquez, Alma P. Andal, Anna Lea G. Elizaga, Bernadette C. Halili-Mendoza, Maria Paz Virginia K. Otayza and David S. Millington
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Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines
by
Carmencita D. Padilla, Bradford L. Therrell, Jr., Maria Melanie Liberty B. Alcausin, Reynaldo C. de Castro, Jr., Maria Beatriz P. Gepte, Ma. Elouisa L. Reyes, Charity M. Jomento, Riza Concordia N. Suarez, Ebner Bon G. Maceda, Conchita G. Abarquez, J. Edgar Winston C. Posecion, Alma P. Andal, Anna Lea G. Elizaga, Bernadette C. Halili-Mendoza, Maria Paz Virginia K. Otayza and Carolyn C. Hoppe
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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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The Progress and Future of US Newborn Screening
by
Michael S. Watson, Michele A. Lloyd-Puryear and R. Rodney Howell
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Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan
by
Tomokazu Kimizu, Shinobu Ida, Kentaro Okamoto, Hiroyuki Awano, Emma Tabe Eko Niba, Yogik Onky Silvana Wijaya, Shin Okazaki, Hideki Shimomura, Tomoko Lee, Koji Tominaga, Shin Nabatame, Toshio Saito, Takashi Hamazaki, Norio Sakai, Kayoko Saito, Haruo Shintaku, Kandai Nozu, Yasuhiro Takeshima, Kazumoto Iijima, Hisahide Nishio and Masakazu Shinoharaadd
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Need and Viability of Newborn Screening Programme in India: Report from a Pilot Study
by
Arya Raveendran, Teena Joseph Chacko, Priya Prabhu, Raghava Varma, Leslie Edward Lewis, Pragna Rao, Prajna P. Shetty, Yajna S. Phaneendra Mallimoggala, Asha Hedge, Dinesh M. Nayak, Sudeep Moorkoth and Sudheer Moorkoth
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Newborn Screening for Congenital Hypothyroidism in Japan
by
Kanshi Minamitani
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Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs
by
Vanessa Luiza Romanelli Tavares, Frederico Monfardini, Naila Cristina Vilaça Lourenço, Katia Maria da Rocha, Karina Weinmann, Rita Pavanello and Mayana Zatz
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Advances in the Diagnosis and Treatment of Krabbe Disease
by
David A Wenger, Paola Luzi and Mohammad A. Rafi
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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
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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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The Progress and Future of US Newborn Screening
by
Michael S. Watson, Michele A. Lloyd-Puryear and R. Rodney Howell
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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
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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 Maternadd
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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 Ucchedduadd
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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
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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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Newborn Screening for Cystic Fibrosis: A Qualitative Study of Successes and Challenges from Universal Screening in the United States
by
Marci K. Sontag, Joshua I. Miller, Sarah McKasson, Amy Gaviglio, Stacey L. Martiniano, Rhonda West, Marisol Vazquez, Clement L. Ren, Philip M. Farrell, Susanna A. McColley and Yvonne Kellar-Guenther
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Newborn Screening Is on a Collision Course with Public Health Ethics
by
Robert J. Currier
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Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis
by
Audrey Tluczek, Anne L. Ersig and Shinhyo Lee
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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
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An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders
by
Wendy K. Chung, Stephen M. Kanne and Zhanzhi Hu
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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
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Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots
by
Allysa M. Dijkstra, Pim de Blaauw, Willemijn J. van Rijt, Hanneke Renting, Ronald G. H. J. Maatman, Francjan J. van Spronsen, Rose E. Maase, Peter C. J. I. Schielen, Terry G. J. Derks and M. Rebecca Heiner-Fokkema
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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
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Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project
by
Farshad Niri, Jessie Nicholls, Kelly Baptista Wyatt, Christine Walker, Tiffany Price, Rhonda Kelln, Stacey Hume, Jillian Parboosingh, Margaret Lilley, Hanna Kolski, Ross Ridsdale, Andrew Muranyi, Jean K. Mah and Dennis E. Bulman
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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
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Best Practice for Identification of Classical 21-Hydroxylase Deficiency Should Include 21 Deoxycortisol Analysis with Appropriate Isomeric Steroid Separation
by
Ronda F. Greaves, Monish Kumar, Nazha Mawad, Alberto Francescon, Chris Le, Michele O’Connell, James Chi and James Pitt
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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
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A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain)
by
María Sánchez-Villalobos, Eulalia Campos Baños, María Jesús Juan Fita, José María Egea Mellado, Inmaculada Gonzalez Gallego, Asunción Beltrán Videla, Mercedes Berenguer Piqueras, Mar Bermúdez Cortés, José María Moraleda Jiménez, Encarna Guillen Navarro, Eduardo Salido Fierrez and Ana B. Pérez-Oliva
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An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders
by
Wendy K. Chung, Stephen M. Kanne and Zhanzhi Hu
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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
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Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population
by
Amy Gaviglio, Michael Lasarev, Ruthanne Sheller, Sikha Singh and Mei Baker
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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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Droplet Digital PCR (ddPCR) Does Not Enhance the Sensitivity of Detection of Cytomegalovirus (CMV) DNA in Newborn Dried Blood Spots Evaluated in the Context of Newborn Congenital CMV (cCMV) Screening
by
Nelmary Hernandez-Alvarado, Craig J. Bierle and Mark R. Schleiss
|
|
Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective
by
Julia Prinzi, Marzia Pasquali, Judith A. Hobert, Rachel Palmquist, Kristen N. Wong, Stephanie Francis and Irene De Biase
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Cystic Fibrosis Cases Missed by Newborn Bloodspot Screening—Towards a Consistent Definition and Data Acquisition
by
Anne Munck, Kevin W. Southern, Jared Murphy, Karin M. de Winter-de Groot, Silvia Gartner, Bülent Karadag, Nataliya Kashirskaya, Barry Linnane, Marijke Proesmans, Dorota Sands, Olaf Sommerburg, Carlo Castellani and Jürg Barben
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Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities
by
Zohreh Talebizadeh, Valerie Hu, Monir Shababi and Amy Brower
|
|
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
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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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Thalassemias: An Overview
by
Michael Angastiniotis and Stephan Lobitz
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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
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Reliability of Neonatal Screening Results
by
Maria Knapkova, Kate Hall and Gerard Loeber
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Universal Implementation of Newborn Screening in India
by
Thomas Mookken
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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. Schielenadd
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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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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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Screening Pathways through China, the Asia Pacific Region, the World
by
Veronica Wiley, Dianne Webster and Gerard Loeber
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