Etiology and clinical presentation of birth defects: population based study von Feldkamp, Marcia L, Carey, John C, Byrne, Janice L B, Krikov, Sergey, Botto, Lorenzo D

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

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Associations between maternal periconceptional exposure to secondhand tobacco smoke and major birth defects von Hoyt, Adrienne T., MS, MPH, MALA, MALS, Canfield, Mark A., PhD, Romitti, Paul A., PhD, Botto, Lorenzo D., MD, Anderka, Marlene T., ScD, Krikov, Sergey V., MS, Tarpey, Morgan K., MPH, Feldkamp, Marcia L., PhD

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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 von Kancherla, Vijaya, Botto, Lorenzo D, Rowe, Laura A, Shlobin, Nathan A, Caceres, Adrian, Arynchyna-Smith, Anastasia, Zimmerman, Kathrin, Blount, Jeffrey, Kibruyisfaw, Zewdie, Ghotme, Kemel A, Karmarkar, Santosh, Fieggen, Graham, Roozen, Sylvia, Oakley, Godfrey P, Rosseau, Gail, Berry, Robert J

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Laterality defects in the national birth defects prevention study (1998-2007): Birth prevalence and descriptive epidemiology von Lin, Angela E., Krikov, Sergey, Riehle-Colarusso, Tiffany, Frías, Jaime L., Belmont, John, Anderka, Marlene, Geva, Tal, Getz, Kelly D., Botto, Lorenzo D.

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Diabetes mellitus and birth defects von Correa, Adolfo, MD, PhD, Gilboa, Suzanne M., PhD, Besser, Lilah M., MPH, Botto, Lorenzo D., MD, Moore, Cynthia A., MD, PhD, Hobbs, Charlotte A., MD, PhD, Cleves, Mario A., PhD, Riehle-Colarusso, Tiffany J., MD, Waller, D. Kim, PhD, Reece, E. Albert, MD, PhD, MBA

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

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Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies von Botto, Lorenzo D., Lin, Angela E., Riehle-Colarusso, Tiffany, Malik, Sadia, Correa, Adolfo

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Cancer risk in children and adolescents with birth defects: a population-based cohort study von Botto, Lorenzo D, Flood, Timothy, Little, Julian, Fluchel, Mark N, Krikov, Sergey, Feldkamp, Marcia L, Wu, Yuan, Goedken, Rhinda, Puzhankara, Soman, Romitti, Paul A

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The Contribution of Chromosomal Abnormalities to Congenital Heart Defects: A Population-Based Study von Hartman, Robert J., Rasmussen, Sonja A., Botto, Lorenzo D., Riehle-Colarusso, Tiffany, Martin, Christa L., Cragan, Janet D., Shin, Mikyong, Correa, Adolfo

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Turner Syndrome in Girls Presenting with Coarctation of the Aorta von Eckhauser, Aaron, MD, MSCI, South, Sarah T., PhD, Meyers, Lindsay, MS, LCGC, Bleyl, Steven B., MD, PhD, Botto, Lorenzo D., MD

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Treatment of Hyperthyroidism in Pregnancy and Birth Defects von Clementi, Maurizio, Di Gianantonio, Elena, Cassina, Matteo, Leoncini, Emanuele, Botto, Lorenzo D, Mastroiacovo, Pierpaolo

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Improvement in stroke mortality in Canada and the United States, 1990 to 2002 von QUANHE YANG, BOTTO, Lorenzo D, ERICKSON, J. David, BERRY, Robert J, SAMBELL, Christie, JOHANSEN, Helen, FRIEDMAN, J. M

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

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Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy von Helman, Guy, Zarekiani, Parand, Tromp, Samantha A.M., Andrews, Ashley, Botto, Lorenzo D., Bonkowsky, Joshua L., Chassevent, Anna, Giorgio, Elisa, Pippucci, Tommaso, Wei, Shen, Smith‐Hicks, Constance, Vaula, Giovanna, Willemsen, Michèl A.A.P, Schimmel, Mareike, Vollert, Kurt, Shimizu, Fumitaka, Kanda, Takashi, Lynch, Matthew, Roscioli, Tony, Taft, Ryan J., Simons, Cas, Bugiani, Marianna, Kuijpers, Taco W., Knaap, Marjo S.

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Expanding the genetic and clinical spectrum of the NONO‐associated X‐linked intellectual disability syndrome von Carlston, Colleen M., Bleyl, Steven B., Andrews, Ashley, Meyers, Lindsay, Brown, Sara, Bayrak‐Toydemir, Pinar, Bale, James F., Botto, Lorenzo D.

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

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Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling von Cetinkaya, Arda, Xiong, Jingwei Rachel, Vargel, İbrahim, Kösemehmetoğlu, Kemal, Canter, Halil İbrahim, Gerdan, Ömer Faruk, Longo, Nicola, Alzahrani, Ahmad, Camps, Mireia Perez, Taskiran, Ekim Zihni, Laupheimer, Simone, Botto, Lorenzo D., Paramalingam, Eeswari, Gormez, Zeliha, Uz, Elif, Yuksel, Bayram, Ruacan, Şevket, Sağıroğlu, Mahmut Şamil, Takahashi, Tokiharu, Reversade, Bruno, Akarsu, Nurten Ayse

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

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

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