Need Help?
Most Cited & Viewed
Most Cited & Viewed Papers
Citations | Article |
---|---|
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
Show full author list
remove
Hide full author list
|
|
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
|
|
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
|
|
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
|
|
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
|
|
Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis
by
Audrey Tluczek, Anne L. Ersig and Shinhyo Lee
|
|
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
|
|
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
|
Citations | Article |
---|---|
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
|
|
Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis
by
Audrey Tluczek, Anne L. Ersig and Shinhyo Lee
|
|
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
Show full author list
remove
Hide full author list
|
|
Newborn Screening Is on a Collision Course with Public Health Ethics
by
Robert J. Currier
|
|
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
by
Jessica R. C. Priestley, Laura A. Adang, Sarah Drewes Williams, Uta Lichter-Konecki, Caitlin Menello, Nicole M. Engelhardt, James C. DiPerna, Brenda DiBoscio, Rebecca C. Ahrens-Nicklas, Andrew C. Edmondson, Francis Jeshira Reynoso Santos and Can Ficicioglu
|
|
A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes
by
Alberto Burlina, Simon A. Jones, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys and David Cheillan
|
|
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
Show full author list
remove
Hide full author list
|
|
Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors
by
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
Show full author list
remove
Hide full author list
|
Citations | Article |
---|---|
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
|
|
Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018
by
Sikha Singh, Jelili Ojodu, Alex R. Kemper, Wendy K. K. Lam and Scott D. Grosse
|
|
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
|
|
Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations
by
Jovanka R. King, Kalle Grill and Lennart Hammarström
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
Citations | Article |
---|---|
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
by
Abigail Veldman, M. B. Gea Kiewiet, Dineke Westra, Annet M. Bosch, Marion M. G. Brands, René I. F. M. de Coo, Terry G. J. Derks, Sabine A. Fuchs, Johanna. M. P. van den Hout, Hidde H. Huidekoper, Leo A. J. Kluijtmans, Klaas Koop, Charlotte M. A. Lubout, Margaretha F. Mulder, Bianca Panis, M. Estela Rubio-Gozalbo, Monique G. de Sain-van der Velden, Jaqueline Schaefers, Andrea B. Schreuder, Gepke Visser, Ron A. Wevers, Frits A. Wijburg, M. Rebecca Heiner-Fokkema and Francjan J. van Spronsenadd
Show full author list
remove
Hide full author list
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
Citations | Article |
---|---|
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
Show full author list
remove
Hide full author list
|
|
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
|
|
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
|
|
Newborn Screening for CF across the Globe—Where Is It Worthwhile?
by
Virginie Scotet, Hector Gutierrez and Philip M. Farrell
|
|
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
|
|
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
|
|
Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders
by
Stuart J. Moat, Roanna S. George and Rachel S. Carling
|
|
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
|
|
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
|
Views | Article |
---|---|
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
|
|
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
Show full author list
remove
Hide full author list
|
|
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
|
Views | Article |
---|---|
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
|
|
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
Show full author list
remove
Hide full author list
|
|
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
Show full author list
remove
Hide full author list
|
|
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
by
Jessica R. C. Priestley, Laura A. Adang, Sarah Drewes Williams, Uta Lichter-Konecki, Caitlin Menello, Nicole M. Engelhardt, James C. DiPerna, Brenda DiBoscio, Rebecca C. Ahrens-Nicklas, Andrew C. Edmondson, Francis Jeshira Reynoso Santos and Can Ficicioglu
|
|
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
|
|
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
|
|
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
|
|
Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe
by
Simon A. Jones, David Cheillan, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys and Alberto Burlina
|
Views | Article |
---|---|
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
|
|
2023 APHL/ISNS Newborn Screening Symposium
by
Richard S. Olney, James R. Bonham, Peter C. J. I. Schielen, Dara Slavin and Jelili Ojodu
|
|
Secondary Reporting of G6PD Deficiency on Newborn Screening
by
Stephanie C. Hoang, Pamela Blumenschein, Margaret Lilley, Larissa Olshaski, Aisha Bruce, Nicola A. M. Wright, Ross Ridsdale and Susan Christian
|
|
Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018
by
Sikha Singh, Jelili Ojodu, Alex R. Kemper, Wendy K. K. Lam and Scott D. Grosse
|
|
Newborn Screening in a Pandemic—Lessons Learned
by
Matej Mlinaric, James R. Bonham, Viktor Kožich, Stefan Kölker, Ondrej Majek, Tadej Battelino, Ana Drole Torkar, Vanesa Koracin, Dasa Perko, Ziga Iztok Remec, Barbka Repic Lampret, Maurizio Scarpa, Peter C. J. I. Schielen, Rolf H. Zetterström and Urh Groselj
|
|
Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations
by
Jovanka R. King, Kalle Grill and Lennart Hammarström
|
|
Infants with Congenital Diseases Identified through Newborn Screening—United States, 2018–2020
by
Amy Gaviglio, Sarah McKasson, Sikha Singh and Jelili Ojodu
|
|
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
|
|
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
|
Views | Article |
---|---|
2023 APHL/ISNS Newborn Screening Symposium
by
Richard S. Olney, James R. Bonham, Peter C. J. I. Schielen, Dara Slavin and Jelili Ojodu
|
|
Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen
by
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
|
|
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
|
|
A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism
by
Isabel Ibarra-González, Cynthia Fernández-Lainez, Marcela Vela-Amieva, Sara Guillén-López, Leticia Belmont-Martínez, Lizbeth López-Mejía, Rosa Itzel Carrillo-Nieto and Nidia Alejandra Guillén-Zaragoza
|
|
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
|
|
Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity
by
Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu and Satoshi Okada
|
|
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
|
|
Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals
by
Georgi Iskrov, Vyara Angelova, Boyan Bochev, Vaska Valchinova, Teodora Gencheva, Desislava Dzhuleva, Julian Dichev, Tanya Nedkova, Mariya Palkova, Anelia Tyutyukova, Maria Hristova, Eleonora Hristova-Atanasova and Rumen Stefanov
|
|
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
|
|
Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen
by
Bonnie McCann-Crosby, Mark C. Liang, Mitchell E. Geffner, Christina M. Koppin, Nicole R. Fraga, V. Reid Sutton, Lefkothea P. Karaviti, Gagandeep Bhullar and Mimi S. Kim
|
Views | Article |
---|---|
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
|
|
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
|
|
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
|
|
Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management
by
Morna Dorsey and Jennifer Puck
|
|
Aspects of Newborn Screening in Isovaleric Acidemia
by
Andrea Schlune, Anselma Riederer, Ertan Mayatepek and Regina Ensenauer
|
|
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
|
|
Mini-Review: Challenges in Newborn Screening for Urea Cycle Disorders
by
Véronique Rüfenacht and Johannes Häberle
|
|
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
|
|
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
|
Downloads | Article |
---|---|
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
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
|
|
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
|
|
Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan
by
Shino Odagiri, Daijiro Kabata, Shogo Tomita, Satoshi Kudo, Tomoko Sakaguchi, Noriko Nakano, Kouji Yamamoto, Haruo Shintaku and Takashi Hamazaki
|
Downloads | Article |
---|---|
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
|
|
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
|
|
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
|
|
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
Show full author list
remove
Hide full author list
|
|
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
by
Jessica R. C. Priestley, Laura A. Adang, Sarah Drewes Williams, Uta Lichter-Konecki, Caitlin Menello, Nicole M. Engelhardt, James C. DiPerna, Brenda DiBoscio, Rebecca C. Ahrens-Nicklas, Andrew C. Edmondson, Francis Jeshira Reynoso Santos and Can Ficicioglu
|
|
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 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
|
|
Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe
by
Simon A. Jones, David Cheillan, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys and Alberto Burlina
|
|
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
|
Downloads | Article |
---|---|
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
|
|
Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018
by
Sikha Singh, Jelili Ojodu, Alex R. Kemper, Wendy K. K. Lam and Scott D. Grosse
|
|
Secondary Reporting of G6PD Deficiency on Newborn Screening
by
Stephanie C. Hoang, Pamela Blumenschein, Margaret Lilley, Larissa Olshaski, Aisha Bruce, Nicola A. M. Wright, Ross Ridsdale and Susan Christian
|
|
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
|
|
Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations
by
Jovanka R. King, Kalle Grill and Lennart Hammarström
|
|
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
|
|
Sickle Cell Disease Newborn Screening—An Audit of a Twin Island State Pilot Program
by
Shivon Belle Jarvis, Edda Hadeed, Ketty Lee, Marie-Dominique Hardy-Dessources, Jennifer M. Knight-Madden and Claudine Richardson
|
|
Newborn Screening in a Pandemic—Lessons Learned
by
Matej Mlinaric, James R. Bonham, Viktor Kožich, Stefan Kölker, Ondrej Majek, Tadej Battelino, Ana Drole Torkar, Vanesa Koracin, Dasa Perko, Ziga Iztok Remec, Barbka Repic Lampret, Maurizio Scarpa, Peter C. J. I. Schielen, Rolf H. Zetterström and Urh Groselj
|
|
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
|
Downloads | Article |
---|---|
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
|
|
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
|
|
A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism
by
Isabel Ibarra-González, Cynthia Fernández-Lainez, Marcela Vela-Amieva, Sara Guillén-López, Leticia Belmont-Martínez, Lizbeth López-Mejía, Rosa Itzel Carrillo-Nieto and Nidia Alejandra Guillén-Zaragoza
|
|
Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity
by
Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu and Satoshi Okada
|
|
2023 APHL/ISNS Newborn Screening Symposium
by
Richard S. Olney, James R. Bonham, Peter C. J. I. Schielen, Dara Slavin and Jelili Ojodu
|
|
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
|
|
Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen
by
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
|
|
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
by
Abigail Veldman, M. B. Gea Kiewiet, Dineke Westra, Annet M. Bosch, Marion M. G. Brands, René I. F. M. de Coo, Terry G. J. Derks, Sabine A. Fuchs, Johanna. M. P. van den Hout, Hidde H. Huidekoper, Leo A. J. Kluijtmans, Klaas Koop, Charlotte M. A. Lubout, Margaretha F. Mulder, Bianca Panis, M. Estela Rubio-Gozalbo, Monique G. de Sain-van der Velden, Jaqueline Schaefers, Andrea B. Schreuder, Gepke Visser, Ron A. Wevers, Frits A. Wijburg, M. Rebecca Heiner-Fokkema and Francjan J. van Spronsenadd
Show full author list
remove
Hide full author list
|
|
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
|
|
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
|
Downloads | Article |
---|---|
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
|
|
Thalassemias: An Overview
by
Michael Angastiniotis and Stephan Lobitz
|
|
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
|
|
Universal Implementation of Newborn Screening in India
by
Thomas Mookken
|
|
Reliability of Neonatal Screening Results
by
Maria Knapkova, Kate Hall and Gerard Loeber
|
|
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
Show full author list
remove
Hide full author list
|
|
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
|
|
Newborn Screening for Severe Combined Immunodeficiency-A History of the TREC Assay
by
Mary T. Bausch-Jurken, James W. Verbsky and John M. Routes
|
|
Screening Pathways through China, the Asia Pacific Region, the World
by
Veronica Wiley, Dianne Webster and Gerard Loeber
|