Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management by Clarke, Lorne A., MD, CM, FRCPC, FCCMG, Atherton, Andrea M., MS, CGC, Burton, Barbara K., MD, FAAP, FACMG, Day-Salvatore, Debra L., MD, PhD, FAAP, FACMG, Kaplan, Paige, MBBCh, FRCPC, FCCMG, FAAP, FACMG, Leslie, Nancy D., MD, Scott, C. Ronald, MD, Stockton, David W., MD, FACMG, Thomas, Janet A., MD, FAAP, FACMG, Muenzer, Joseph, MD, PhD

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Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet by Cappuccio, Gerarda, Pinelli, Michele, Alagia, Marianna, Donti, Taraka, Day-Salvatore, Debra-Lynn, Veggiotti, Pierangelo, De Giorgis, Valentina, Lunghi, Simona, Vari, Maria Stella, Striano, Pasquale, Brunetti-Pierri, Nicola, Kennedy, Adam D, Elsea, Sarah H

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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia by Bhoj, Elizabeth J., Li, Dong, Harr, Margaret, Edvardson, Shimon, Elpeleg, Orly, Chisholm, Elizabeth, Juusola, Jane, Douglas, Ganka, Guillen Sacoto, Maria J., Siquier-Pernet, Karine, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Narravula, Alekhya, Walke, Maria, Horner, Michele B., Day-Salvatore, Debra-Lynn, Jayakar, Parul, Vergano, Samantha A. Schrier, Tarnopolsky, Mark A., Hegde, Madhuri, Colleaux, Laurence, Crino, Peter, Hakonarson, Hakon

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De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder by Werren, Elizabeth A., Guxholli, Alba, Jones, Natasha, Wagner, Matias, Hannibal, Iris, Granadillo, Jorge L., Tyndall, Amanda V., Moccia, Amanda, Kuehl, Ryan, Levandoski, Kristin M., Day-Salvatore, Debra L., Wheeler, Marsha, Chong, Jessica X., Bamshad, Michael J., Innes, A. Micheil, Pierson, Tyler Mark, Mackay, Joel P., Bielas, Stephanie L., Martin, Donna M.

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Two-Tier Approach to the Newborn Screening of Methylenetetrahydrofolate Reductase Deficiency and Other Remethylation Disorders with Tandem Mass Spectrometry by Tortorelli, Silvia, MD, PhD, Turgeon, Coleman T, Lim, James S., PhD, Baumgart, Steve, MD, Day-Salvatore, Debra-Lynn, MD, PhD, Abdenur, Jose, MD, Bernstein, Jonathan A., MD, PhD, Lorey, Fred, PhD, Lichter-Konecki, Uta, MD, PhD, Oglesbee, Devin, PhD, Raymond, Kimiyo, MD, Matern, Dietrich, MD, Schimmenti, Lisa, MD, Rinaldo, Piero, MD, PhD, Gavrilov, Dimitar K., MD, PhD

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Duarte (DG) galactosemia: A pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening by Ficicioglu, Can, Thomas, Nina, Yager, Claire, Gallagher, Paul R., Hussa, Christie, Mattie, Andrea, Day-Salvatore, Debra L., Forbes, Brian J.

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Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients by Chapel-Crespo, Cristel, Gavrilov, Dimitar, Sowa, Mary, Myers, Jessica, Day-Salvatore, Debra-Lynn, Lynn, Haley, Regier, Debra, Starin, Danielle, Steenari, Maija, Schoonderwoerd, Kees, Abdenur, Jose E.

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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders by Saffari, Afshin, Lau, Tracy, Tajsharghi, Homa, Karimiani, Ehsan Ghayoor, Kariminejad, Ariana, Efthymiou, Stephanie, Zifarelli, Giovanni, Sultan, Tipu, Toosi, Mehran Beiraghi, Sedighzadeh, Sahar, Siu, Victoria Mok, Ortigoza-Escobar, Juan Darío, AlShamsi, Aisha M, Ibrahim, Shahnaz, Al-Sannaa, Nouriya Abbas, Al-Hertani, Walla, Sandra, Whalen, Tarnopolsky, Mark, Alavi, Shahryar, Li, Chumei, Day-Salvatore, Debra-Lynn, Martínez-González, Maria Jesús, Levandoski, Kristin M, Bedoukian, Emma, Madan-Khetarpal, Suneeta, Idleburg, Michaela J, Menezes, Minal Juliet, Siddharth, Aishwarya, Platzer, Konrad, Oppermann, Henry, Smitka, Martin, Collins, Felicity, Lek, Monkol, Shahrooei, Mohmmad, Ghavideldarestani, Maryam, Herman, Isabella, Rendu, John, Faure, Julien, Baker, Janice, Bhambhani, Vikas, Calderwood, Laurel, Akhondian, Javad, Imannezhad, Shima, Hashemi, Narges, Doosti, Mohammad, Safi, Mojtaba, Ahangari, Najmeh, Torbati, Paria Najarzadeh, Abedini, Soheila, Salpietro, Vincenzo, Gulec, Elif Yilmaz, Eshaghian, Safieh, Ghazavi, Mohammadreza, Pascher, Michael T, Vogel, Marina, Abicht, Angela, Moutton, Sébastien, Bruel, Ange-Line, Rieubland, Claudine, Gallati, Sabina, Strom, Tim M, Lochmüller, Hanns, Mohammadi, Mohammad Hasan, Alvi, Javeria Raza, Zackai, Elaine H, Keena, Beth A, Skraban, Cara M, Berger, Seth I, Andrew, Erin H, Rahimian, Elham, Morrow, Michelle M, Wentzensen, Ingrid M, Millan, Francisca, Henderson, Lindsay B, Dafsari, Hormos Salimi, Jungbluth, Heinz, Gomez-Ospina, Natalia, McRae, Anne, Peter, Merlene, Veltra, Danai, Marinakis, Nikolaos M, Sofocleous, Christalena, Ashrafzadeh, Farah, Pehlivan, Davut, Lemke, Johannes R, Melki, Judith, Benezit, Audrey, Bauer, Peter, Weis, Denisa, Lupski, James R, Senderek, Jan, Christodoulou, John, Chung, Wendy K, Goodchild, Rose, Offiah, Amaka C, Moreno-De-Luca, Andres, Suri, Mohnish, Ebrahimi-Fakhari, Darius, Houlden, Henry, Maroofian, Reza

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De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders by Jia, Xiangbin, Zhang, Shujie, Tan, Senwei, Du, Bing, He, Mei, Qin, Haisong, Chen, Jia, Duan, Xinyu, Luo, Jingsi, Chen, Fei, Ouyang, Luping, Wang, Jian, Chen, Guodong, Yu, Bin, Zhang, Ge, Zhang, Zimin, Lyu, Yongqing, Huang, Yi, Jiao, Jian, Chen, Jin Yun Helen, Swoboda, Kathryn J, Agolini, Emanuele, Novelli, Antonio, Leoni, Chiara, Zampino, Giuseppe, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Gerard, Benedicte, Ginglinger, Emmanuelle, Richer, Julie, McMillan, Hugh, White-Brown, Alexandre, Hoekzema, Kendra, Bernier, Raphael A, Kurtz-Nelson, Evangeline C, Earl, Rachel K, Meddens, Claartje, Alders, Marielle, Fuchs, Meredith, Caumes, Roseline, Brunelle, Perrine, Smol, Thomas, Kuehl, Ryan, Day-Salvatore, Debra-Lynn, Monaghan, Kristin G, Morrow, Michelle M, Eichler, Evan E, Hu, Zhengmao, Yuan, Ling, Tan, Jieqiong, Xia, Kun, Shen, Yiping, Guo, Hui

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P173: Precision animal modeling and VUS-resolution in a novel AXIN2-related disorder by Burrage, Lindsay, Lanza, Denise, Marcogliese, Paul, Lu, Di, Logan Hsu, Chih-Wei, Aceves, Nathalie, Gonzalez, Matthew, Christiansen, Audrey, Rasmussen, Tara, Gaspero, Angelina, Seavitt, John, Dickinson, Mary, Shayota, Brian, Pachter, Stephanie, Day-Salvatore, Debra-Lynn, Kanca, Oguz, Wangler, Michael, Potocki, Lorraine, Rosenfeld, Jill, Lee, Brendan, Yamamoto, Shinya, Bellen, Hugo, Heaney, Jason

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Prenatal Detection of Fetal Trisomy 18 Through Abnormal Sonographic Features by Yeo, Lami, Guzman, Edwin R, Day-Salvatore, Debra, Walters, Christine, Chavez, Donna, Vintzileos, Anthony M

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Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and "prehensile" halluces: A new syndrome? by Day-Salvatore, Debra, McLean, David

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A case of combined oxidative phosphorylation deficiency 5 with prenatal onset by Levandoski, Kristin, Sigdel, Manisha, Benito, Carlos, Day-Salvatore, Debra-Lynn

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eP229 - A case of combined oxidative phosphorylation deficiency 5 with prenatal onset by Levandoski, Kristin, Sigdel, Manisha, Benito, Carlos, Day-Salvatore, Debra-Lynn

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The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening by Atherton, Andrea M, Day-Salvatore, Debra

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Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum by Kronn, David F, Day-Salvatore, Debra, Hwu, Wuh-Liang, Jones, Simon A, Nakamura, Kimitoshi, Okuyama, Torayuki, Swoboda, Kathryn J, Kishnani, Priya S

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Phase 1/2 open-label, multi-center study to assess the safety, tolerability and efficacy of a single dose of PBGM01 delivered into the cisterna magna of subjects with type 1 (early... by Jarnes, Jeanine R., Day-Salvatore, Debra L., Ficicioglu, Can, Hastings, Caroline, Bernard, Genevieve, Baruteau, Julien, Ezgu, Fatih, Giugliani, Roberto, Inbar-Feigenberg, Michal, Whitley, Chester B., Ni, Yan, Ballard, Victoria L., Haws, Thomas F., Weinstein, David A.

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Updated interim safety, biomarker, and efficacy data from Imagine-1: A phase 1/2 open-label, multicenter study to assess the safety, tolerability, and efficacy of a single dose, in... by Jarnes, Jeanine R., Hastings, Caroline A., Ficicioglu, Can H., Day-Salvatore, Debra-Lynn, Giugliani, Roberto, Baruteau, Julien, Whitley, Chester B., Inbar-Feigenberg, Michal, Bernard, Geneviève, Ezgü, Fatih S., Ni, Yan G., Miller, Michelle, Gelb, Michael H., Nagilla, Pruthvi, Johnstone, Rose, Elsasser, Patricia, Cunningham, Elizabeth, Ballard, Victoria, Haws, Thomas F., Forman, Mark S., Weinstein, David A.

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Prenatal Sonographic Findings Associated With Nonmosaic Trisomy 9 and Literature Review by Yeo, Lami, Waldron, Regina, Lashley, Susan, Day-Salvatore, Debra, Vintzileos, Anthony M.

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Indication-specific accuracy of second-trimester genetic ultrasonography for the detection of trisomy 21 by Vintzileos, Anthony M., Guzman, Edwin R., Smulian, John C., Day-Salvatore, Debra L., Knuppel, Robert A.

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