Benefits of tailored disease management in improving tremor, white matter hyperintensities, and liver enzymes in a child with heterozygous X-linked ornithine transcarbamylase defic... by Ashley Andrews, Sarah Roberts, Lorenzo D. Botto

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MADD-like pattern of acylcarnitines associated with sertraline use by Filippo Ingoglia, Mohsen Tanfous, Benjamin Ellezam, Katherine J. Anderson, Marzia Pasquali, Lorenzo D. Botto

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International Undiagnosed Diseases Programs (UDPs): components and outcomes by Ela Curic, Lisa Ewans, Ryan Pysar, Fulya Taylan, Lorenzo D. Botto, Ann Nordgren, William Gahl, Elizabeth Emma Palmer

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Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International by Elizabeth Emma Palmer, Helene Cederroth, Mikk Cederroth, Angelica Maria Delgado-Vega, Natalie Roberts, Fulya Taylan, Ann Nordgren, Lorenzo D. Botto

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A novel RAD51 variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies by Shelby Geilmann, Rachel Solstad, Rachel Palmquist, Josue Flores Daboub, Lorenzo D. Botto, Peter H. Grubb, Josh L. Bonkowsky, Nicola Longo, Sabrina Malone Jenkins

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Action against birth defects: if not now, when? by Kathleen Strong, Judith Robb-McCord, Salimah Walani, Cecilia Mellado, Lorenzo D. Botto, Guillermo Lay-Son, Theresa Diaz, Tahmina Banu, Kokila Lakhoo, Anshu Banerjee

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Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance by Marci K. Sontag, Deboshree Sarkar, Anne M. Comeau, Kathryn Hassell, Lorenzo D. Botto, Richard Parad, Susan R. Rose, Kupper A. Wintergerst, Kim Smith-Whitley, Sikha Singh, Careema Yusuf, Jelili Ojodu, Sara Copeland, Cynthia F. Hinton

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Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway by Tolulope Sokoya, Jan Parolek, Mads Møller Foged, Dmytro I Danylchuk, Manuel Bozan, Bingshati Sarkar, Angelika Hilderink, Michael Philippi, Lorenzo D Botto, Paulien A Terhal, Outi Mäkitie, Jacob Piehler, Yeongho Kim, Christopher G Burd, Andrey S Klymchenko, Kenji Maeda, Joost CM Holthuis

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Health Care Usage Among Adolescents With Congenital Heart Defects at 5 Sites in the United States, 2011 to 2013 by George K. Lui, Kristin Sommerhalter, Yizhao Xi, Lorenzo D. Botto, Tessa Crume, Sherry Farr, Marcia L. Feldkamp, Jill Glidewell, Daphne Hsu, Amber Khanna, Sergey Krikov, Jennifer Li, Cheryl Raskind‐Hood, Lauren Sarno, Alissa R. Van Zutphen, Ali Zaidi, Aida Soim, Wendy M. Book

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Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach. by Jenil Patel, Emine Bircan, Xinyu Tang, Mohammed Orloff, Charlotte A Hobbs, Marilyn L Browne, Lorenzo D Botto, Richard H Finnell, Mary M Jenkins, Andrew Olshan, Paul A Romitti, Gary M Shaw, Martha M Werler, Jingyun Li, Wendy N Nembhard, National Birth Defects Prevention Study

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Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study by David Tucker, Sergey Krikov, Lorenzo D Botto, Hermien E K de Walle, Miriam Gatt, Anna Pierini, Anke Rissmann, Marian K Bakker, Jorieke E H Bergman, Emmanuelle Amar, Guido Cocchi, Janet Cragan, Boris Groisman, Wendy N Nembhard, Shanthi Chidambarathanu, Antonin Sipek Jr, Elena Szabova, Giovanna Tagliabue, Pierpaolo Mastroiacovo

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The burden, prevention and care of infants and children with congenital anomalies in sub-Saharan Africa: A scoping review. by Aminkeng Zawuo Leke, Helen Malherbe, Emma Kalk, Ushma Mehta, Phylis Kisa, Lorenzo D Botto, Idowu Ayede, Lee Fairlie, Nkwati Michel Maboh, Ieda Orioli, Rebecca Zash, Ronald Kusolo, Daniel Mumpe-Mwanja, Robert Serujogi, Bodo Bongomin, Caroline Osoro, Clarisse Dah, Olive Sentumbwe-Mugisha, Hamisi Kimaro Shabani, Philippa Musoke, Helen Dolk, Linda Barlow-Mosha

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Preventing birth defects, saving lives, and promoting health equity: an urgent call to action for universal mandatory food fortification with folic acid by Vijaya Kancherla, PhD, Lorenzo D Botto, MD, Laura A Rowe, MPH, Nathan A Shlobin, BA, Adrian Caceres, MD, Anastasia Arynchyna-Smith, MPH, Kathrin Zimmerman, BA, Jeffrey Blount, MD, Zewdie Kibruyisfaw, MD, Kemel A Ghotme, MD, Santosh Karmarkar, MCh, Graham Fieggen, MD, Sylvia Roozen, PhD, Godfrey P Oakley, Jr, MD, Gail Rosseau, MD, Robert J Berry, MD

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