Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care von Crawford, Samuel A., Gong, Cynthia L., Yieh, Leah, Randolph, Linda M., Hay, Joel W.

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Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy von Garcia, Paula, Phillips, Dawn, Johnson, JoAnn, Martin, Kenneth, Randolph, Linda M., Rosenfeld, Howard, Harmatz, Paul

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A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis von Sun, Miao, Kaminsky, Cornelia K., Deppe, Philip, Ilse, Mai-Britt, Vaz, Frédéric M., Plecko, Barbara, Lübke, Torben, Randolph, Linda M.

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8-Month-Old Boy with Ataxia after Ingestion of Cow's Milk von Fu, Xiaowei, Karimov, Catherine, Randolph, Linda M, Russi, Alvaro Serrano

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Androgenetic chimerism as an etiology for Beckwith–Wiedemann syndrome: diagnosis and management von Sheppard, Sarah E., Lalonde, Emilie, Adzick, N. Scott, Beck, Anita E., Bhatti, Tricia, De Leon, Diva D., Duffy, Kelly A., Ganguly, Arupa, Hathaway, Evan, Ji, Jianling, Linn, Rebecca, Lord, Katherine, Randolph, Linda M., Sajorda, Brian, States, Lisa, Conlin, Laura K., Kalish, Jennifer M.

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Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility von Wang, Jia-Chi, Ross, Leslie, Mahon, Loretta W, Owen, Renius, Hemmat, Morteza, Wang, Boris T, El Naggar, Mohammed, Kopita, Kimberly A, Randolph, Linda M, Chase, John M, Matas Aguilera, Maria J, Siles, Juan López, Church, Joseph A, Hauser, Natalie, Shen, Joseph J, Jones, Marilyn C, Wierenga, Klaas J, Jiang, Zhijie, Haddadin, Mary, Boyar, Fatih Z, Anguiano, Arturo, Strom, Charles M, Sahoo, Trilochan

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Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibroma... von Davidson, Tom B, Sanchez-Lara, Pedro A, Randolph, Linda M, Krieger, Mark D, Wu, Shi-Qi, Panigrahy, Ashok, Shimada, Hiroyuki, Erdreich-Epstein, Anat

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Chorionic villus sampling fails to confirm mosaic trisomy 21 fetus after positive cell‐free DNA von Uquillas, Kristen, Chan, Yen, King, Jennifer R., Randolph, Linda M., Incerpi, Marc

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Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study von Trefz, Friedrich K., MD, Burton, Barbara K., MD, Longo, Nicola, MD, PhD, Casanova, Mercedes Martinez-Pardo, MD, Gruskin, Daniel J., MD, Dorenbaum, Alex, MD, Kakkis, Emil D., MD, PhD, Crombez, Eric A., MD, Grange, Dorothy K., MD, Harmatz, Paul, MD, Lipson, Mark H., MD, Milanowski, Andrzej, MD, PhD, Randolph, Linda Marie, MD, Vockley, Jerry, MD, PhD, Whitley, Chester B., MD, PhD, Wolff, Jon A., MD, Bebchuk, Judith, ScD, Christ-Schmidt, Heidi, MSE, Hennermann, Julia B., MD

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Assessment of Facial Morphologic Features in Patients With Congenital Adrenal Hyperplasia Using Deep Learning von AbdAlmageed, Wael, Mirzaalian, Hengameh, Guo, Xiao, Randolph, Linda M, Tanawattanacharoen, Veeraya K, Geffner, Mitchell E, Ross, Heather M, Kim, Mimi S

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Investigation of NRXN1 deletions: Clinical and molecular characterization von Dabell, Mindy Preston, Rosenfeld, Jill A., Bader, Patricia, Escobar, Luis F., El-Khechen, Dima, Vallee, Stephanie E., Dinulos, Mary Beth Palko, Curry, Cynthia, Fisher, Jamie, Tervo, Raymond, Hannibal, Mark C., Siefkas, Kiana, Wyatt, Philip R., Hughes, Lauren, Smith, Rosemarie, Ellingwood, Sara, Lacassie, Yves, Stroud, Tracy, Farrell, Sandra A., Sanchez-Lara, Pedro A., Randolph, Linda M., Niyazov, Dmitriy, Stevens, Cathy A., Schoonveld, Cheri, Skidmore, David, MacKay, Sara, Miles, Judith H., Moodley, Manikum, Huillet, Adam, Neill, Nicholas J., Ellison, Jay W., Ballif, Blake C., Shaffer, Lisa G.

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Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI von Harmatz, Paul R., Garcia, Paula, Guffon, Nathalie, Randolph, Linda M., Shediac, Renée, Braunlin, Elizabeth, Lachman, Ralph S., Decker, Celeste

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Generalized Arterial Calcification in a Recipient Twin: Discordant Fetal Hemodynamics Result in Differing Phenotypes in Monozygotic Twins with an ABCC6 Mutation von Votava-Smith, Jodie K., Pitukcheewanont, Pisit, Randolph, Linda M., Chmait, Ramen H.

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When moments matter: Finding answers with rapid exome sequencing von Powis, Zöe, Farwell Hagman, Kelly D., Blanco, Kirsten, Au, Margaret, Graham, John M., Singh, Kathryn, Gallant, Natalie, Randolph, Linda M., Towne, Meghan, Hunter, Jesse, Shinde, Deepali N., Palmaer, Erika, Schoenfeld, Brian, Tang, Sha

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Discordant Blood Chimerism in Dizygotic Monochorionic Laser-Treated Twin–Twin Transfusion Syndrome von Assaf, Samer A., Randolph, Linda M., Benirschke, Kurt, Wu, Samuel, Samadi, Ramin, Chmait, Ramen H.

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Treatment of alpha(0)-thalassemia (--SEA/--SEA) via serial fetal and post-natal transfusions: Can early fetal intervention improve outcomes? von Chmait, Ramen H., Baskin, Jacquelyn L., Carson, Susan, Randolph, Linda M., Hamilton, Anita

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Automated Monitoring to Detect H1N1 Symptoms Among Urban, Medicaid-Eligible, Pregnant Women: A Community-Partnered Randomized Controlled Trial von Nassar, Amy Filmore, Alemi, Farrokh, Hetmyer, Alisha, Alemi, Yara, Randolph, Linda A., Ramey, Sharon Landesman

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Prevalence of Noncardiac Structural Anomalies in Twin‐Twin Transfusion Syndrome von Patel, Shivani, Randolph, Linda M., Benirschke, Kurt, Llanes, Arlyn, Yedigarova, Larisa, Chmait, Ramen H.

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The childless man von Scheuerle, Angela E., Picconi, Jason L., Neidich, Julie, Panny, Susan, Plecher, Beth A., Randolph, Linda M., Trapane, Pamela, Trotter, Tracy L.

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L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung’s disease von Jackson, Sha-Ron, Guner, Yigit S., Woo, Russell, Randolph, Linda M., Ford, Henri, Shin, Cathy E.

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