Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia von Oosterhof, Nynke, Chang, Irene J., Karimiani, Ehsan Ghayoor, Kuil, Laura E., Jensen, Dana M., Daza, Ray, Young, Erica, Astle, Lee, van der Linde, Herma C., Shivaram, Giridhar M., Demmers, Jeroen, Latimer, Caitlin S., Keene, C. Dirk, Loter, Emily, Maroofian, Reza, van Ham, Tjakko J., Hevner, Robert F., Bennett, James T.

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Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots von Collins, Christopher J, Chang, Irene J, Jung, Sunhee, Dayuha, Remwilyn, Whiteaker, Jeffrey R, Segundo, Gesmar R S, Torgerson, Troy R, Ochs, Hans D, Paulovich, Amanda G, Hahn, Si Houn

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Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature von Poskanzer, Sheri A., Schultz, Matthew J., Turgeon, Coleman T., Vidal‐Folch, Noemi, Liedtke, Kris, Oglesbee, Devin, Gavrilov, Dimitar K., Tortorelli, Silvia, Matern, Dietrich, Rinaldo, Piero, Bennett, James T., Thies, Jenny M., Chang, Irene J., Beck, Anita E., Raymond, Kimiyo, Allenspach, Eric J., Lam, Christina

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Refractory Myoclonus as a Presentation of Metabolic Stroke in A Child With Cobalamin B Methylmalonic Acidemia After Liver and Kidney Transplant von Olson, Valerie, Chang, Irene J, Merritt, J Lawrence, Mingbunjerdsuk, Dararat

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Congenital disorders of glycosylation von Chang, Irene J, He, Miao, Lam, Christina T

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Pharmacokinetics of oral l-serine supplementation in a single patient von Miller, Danny E., Ferreira, Carlos R., Scott, Anna I., Chang, Irene J.

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3-hour genome sequencing and targeted analysis to rapidly assess genetic risk von Zalusky, Miranda P.G., Gustafson, Jonas A., Bohaczuk, Stephanie C., Mallory, Ben, Reed, Paxton, Wenger, Tara, Beckman, Erika, Chang, Irene J., Paschal, Cate R., Buchan, Jillian G., Lockwood, Christina M., Puia-Dumitrescu, Mihai, Garalde, Daniel R., Guillory, Joseph, Markham, Androo J., Bamshad, Michael J., Eichler, Evan E., Stergachis, Andrew B., Miller, Danny E.

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The genetics of Wilson disease von Chang, Irene J., Hahn, Si Houn

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The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses von Guenzel, Adam J., Hall, Patricia L., Scott, Anna I., Lam, Christina, Chang, Irene J., Thies, Jenny, Ferreira, Carlos R., Pichurin, Pavel, Laxen, William, Raymond, Kimiyo, Gavrilov, Dimitar K., Oglesbee, Devin, Rinaldo, Piero, Matern, Dietrich, Tortorelli, Silvia

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Regulation of synaptic transmission at the photoreceptor terminal: a novel role for the cation–chloride co‐transporter NKCC1 von Shen, Wen, Purpura, Lauren A., Li, Baoqin, Nan, Changlong, Chang, Irene J., Ripps, Harris

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The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis von Poskanzer, Sheri A., Thies, Jenny, Collins, Christopher J., Myers, Candace T., Dayuha, Remwilyn, Duong, Phi, Yi, Fan, Chang, Irene J., Ochs, Hans D., Torgerson, Troy R., Hahn, Si Houn

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Multivitamin and mineral supplementation is associated with the reduction of fracture risk and hospitalization rate in Chinese adult males: a randomized controlled study von Wang, Shao-Ming, Yin, Liang-Yu, Zhang, Yu, Fan, Jin-Hu, Chang, Irene J., Dawsey, Sanford M., Taylor, Philip R., Abnet, Christian C., Qiao, You-Lin

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COQ2 nephropathy: a treatable cause of nephrotic syndrome in children von Starr, Michelle C., Chang, Irene J., Finn, Laura S., Sun, Angela, Larson, Austin A., Goebel, Jens, Hanevold, Coral, Thies, Jenny, Van Hove, Johan L. K., Hingorani, Sangeeta R., Lam, Christina

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Effect of an educational intervention on HPV knowledge and vaccine attitudes among urban employed women and female undergraduate students in China: a cross-sectional study von Chang, Irene J, Huang, Rong, He, Wei, Zhang, Shao-Kai, Wang, Shao-Ming, Zhao, Fang-Hui, Smith, Jennifer S, Qiao, You-Lin

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Influence of enteral feeding and anemia on tissue oxygen extraction after red blood cell transfusion in preterm infants von Goldstein, Gregory P., Rao, Anoop, Ling, Albee Y., Ding, Victoria Y., Chang, Irene J., Chock, Valerie Y.

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Tutorial: Triheptanoin and Nutrition Management for Treatment of Long‐Chain Fatty Acid Oxidation Disorders von Norris, Marie K., Scott, Anna I., Sullivan, Sarah, Chang, Irene J., Lam, Christina, Sun, Angela, Hahn, Sihoun, Thies, Jenny M., Gunnarson, Melissa, McKean, Kelly N., Merritt, J. Lawrence

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Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort von Lam, Christina, Scaglia, Fernando, Berry, Gerard T., Larson, Austin, Sarafoglou, Kyriakie, Andersson, Hans C., Sklirou, Evgenia, Tan, Queenie K.G., Starosta, Rodrigo T., Sadek, Mustafa, Wolfe, Lynne, Horikoshi, Seishu, Ali, May, Barone, Rita, Campbell, Teresa, Chang, Irene J., Coles, Kiaira, Cook, Edward, Eklund, Erik A., Engelhardt, Nicole M., Freeman, Mary, Friedman, Jennifer, Fu, Debbie Y.T., Botzo, Grace, Rawls, Brandy, Hernandez, Christien, Johnsen, Christin, Keller, Kierstin, Kramer, Sara, Kuschel, Bryce, Leshinski, Angela, Martinez-Duncker, Ivan, Mazza, Gina L., Mercimek-Andrews, Saadet, Miller, Bradley S., Muthusamy, Karthik, Neira, Juanita, Patterson, Marc C., Pogorelc, Natalie, Powers, Lex N., Ramey, Elizabeth, Reinhart, Michaela, Squire, Audrey, Thies, Jenny, Vockley, Jerry, Vreugdenhil, Hayden, Witters, Peter, Youbi, Mehdi, Zeighami, Aziza, Zemet, Roni, Edmondson, Andrew C., Morava, Eva

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Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation von Dang Do, An N., Chang, Irene J., Jiang, Xutian, Wolfe, Lynne A., Ng, Bobby G., Lam, Christina, Schnur, Rhonda E., Allis, Katrina, Hansikova, Hana, Ondruskova, Nina, O'Connor, Shawn D., Sanchez‐Valle, Amarilis, Vollo, Arve, Wang, Raymond Y., Wolfenson, Zoe, Perreault, John, Ory, Daniel S., Freeze, Hudson H., Merritt, J. Lawrence, Porter, Forbes D.

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Novel pregnancy‐triggered episodes of CAPOS syndrome von Chang, Irene J., Adam, Margaret P., Jayadev, Suman, Bird, Thomas D., Natarajan, Niranjana, Glass, Ian A.

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Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants von Chang, Irene J., Sun, Angela, Bouchard, Maryse L., Kamps, Shawn E., Hale, Susan, Done, Stephen, Goldberg, Michael J., Glass, Ian A.

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