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Most Cited & Viewed Papers

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Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up
by Jamie Matteson, Stanley Sciortino, Lisa Feuchtbaum, Tracey Bishop, Richard S. Olney and Hao Tang
 
Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021
by Kshea Hale, Jelili Ojodu and Sikha Singh
 
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
 
Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis
by Audrey Tluczek, Anne L. Ersig and Shinhyo Lee
 
A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools
by Alexander D. Rowe, Stephanie D. Stoway, Henrik Åhlman, Vaneet Arora, Michele Caggana, Anna Fornari, Arthur Hagar, Patricia L. Hall, Gregg C. Marquardt, Bobby J. Miller, Christopher Nixon, Andrew P. Norgan, Joseph J. Orsini, Rolf D. Pettersen, Amy L. Piazza, Neil R. Schubauer, Amy C. Smith, Hao Tang, Norma P. Tavakoli, Sainan Wei, Rolf H. Zetterström, Robert J. Currier, Lars Mørkrid and Piero Rinaldoadd Show full author list remove Hide full author list
 
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 Show full author list remove Hide full author list
 
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
 
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
 
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 Show full author list remove Hide full author list
 
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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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
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
A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools
by Alexander D. Rowe, Stephanie D. Stoway, Henrik Åhlman, Vaneet Arora, Michele Caggana, Anna Fornari, Arthur Hagar, Patricia L. Hall, Gregg C. Marquardt, Bobby J. Miller, Christopher Nixon, Andrew P. Norgan, Joseph J. Orsini, Rolf D. Pettersen, Amy L. Piazza, Neil R. Schubauer, Amy C. Smith, Hao Tang, Norma P. Tavakoli, Sainan Wei, Rolf H. Zetterström, Robert J. Currier, Lars Mørkrid and Piero Rinaldoadd Show full author list remove Hide full author list
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
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
The Progress and Future of US Newborn Screening
by Michael S. Watson, Michele A. Lloyd-Puryear and R. Rodney Howell
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 Show full author list remove Hide full author list
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
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
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 Show full author list remove Hide full author list
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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
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
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
The Progress and Future of US Newborn Screening
by Michael S. Watson, Michele A. Lloyd-Puryear and R. Rodney Howell
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 Show full author list remove Hide full author list
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
Newborn Screening for Congenital Hypothyroidism in Japan
by Kanshi Minamitani
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
Advances in the Diagnosis and Treatment of Krabbe Disease
by David A Wenger, Paola Luzi and Mohammad A. Rafi
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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