Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly von Wang, Lu, Li, Zhen, Sievert, David, Smith, Desirée E. C., Mendes, Marisa I., Chen, Dillon Y., Stanley, Valentina, Ghosh, Shereen, Wang, Yulu, Kara, Majdi, Aslanger, Ayca Dilruba, Rosti, Rasim O., Houlden, Henry, Salomons, Gajja S., Gleeson, Joseph G.

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Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism von Wenderski, Wendy, Wang, Lu, Krokhotin, Andrey, Walsh, Jessica J., Li, Hongjie, Shoji, Hirotaka, Ghosh, Shereen, George, Renee D., Miller, Erik L., Elias, Laura, Gillespie, Mark A., Son, Esther Y., Staahl, Brett T., Baek, Seung Tae, Stanley, Valentina, Moncada, Cynthia, Shipony, Zohar, Linker, Sara B., Marchetto, Maria C. N., Gage, Fred H., Chen, Dillon, Sultan, Tipu, Zaki, Maha S., Ranish, Jeffrey A., Miyakawa, Tsuyoshi, Luo, Liqun, Malenka, Robert C., Crabtree, Gerald R., Gleeson, Joseph G.

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Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans von Shaheen, Ranad, Jiang, Nan, Alzahrani, Fatema, Ewida, Nour, Al-Sheddi, Tarfa, Alobeid, Eman, Musaev, Damir, Stanley, Valentina, Hashem, Mais, Ibrahim, Niema, Abdulwahab, Firdous, Alshenqiti, Abduljabbar, Sonmez, Fatma Mujgan, Saqati, Nadia, Alzaidan, Hamad, Al-Qattan, Mohammad M., Al-Mohanna, Futwan, Gleeson, Joseph G., Alkuraya, Fowzan S.

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Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission von Breuss, Martin W, Yang, Xiaoxu, Stanley, Valentina, McEvoy-Venneri, Jennifer, Xu, Xin, Morales, Arlene J, Gleeson, Joseph G

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Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome von Breuss, Martin W., Nguyen, An, Song, Qiong, Nguyen, Thai, Stanley, Valentina, James, Kiely N., Musaev, Damir, Chai, Guoliang, Wirth, Sara A., Anzenberg, Paula, George, Renee D., Johansen, Anide, Ali, Shaila, Zia-ur-Rehman, Muhammad, Sultan, Tipu, Zaki, Maha S., Gleeson, Joseph G.

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Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy von Friedman, Jennifer, Smith, Desiree E., Issa, Mahmoud Y., Stanley, Valentina, Wang, Rengang, Mendes, Marisa I., Wright, Meredith S., Wigby, Kristen, Hildreth, Amber, Crawford, John R., Koehler, Alanna E., Chowdhury, Shimul, Nahas, Shareef, Zhai, Liting, Xu, Zhiwen, Lo, Wing-Sze, James, Kiely N., Musaev, Damir, Accogli, Andrea, Guerrero, Kether, Tran, Luan T., Omar, Tarek E. I., Ben-Omran, Tawfeg, Dimmock, David, Kingsmore, Stephen F., Salomons, Gajja S., Zaki, Maha S., Bernard, Geneviève, Gleeson, Joseph G.

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Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians von Segal, Michael M., George, Renee, Waltman, Peter, El-Hattab, Ayman W., James, Kiely N., Stanley, Valentina, Gleeson, Joseph

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Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly von Wang, Lu, Li, Zhen, Sievert, David, Smith, Desirée E. C., Mendes, Marisa I., Chen, Dillon Y., Stanley, Valentina, Ghosh, Shereen, Wang, Yulu, Kara, Majdi, Aslanger, Ayca Dilruba, Rosti, Rasim O., Houlden, Henry, Salomons, Gajja S., Gleeson, Joseph G.

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Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families von Issa, Mahmoud Y., Chechlacz, Zinayida, Stanley, Valentina, George, Renee D., McEvoy-Venneri, Jennifer, Belandres, Denice, Elbendary, Hasnaa M., Gaber, Khaled R., Nabil, Ahmed, Abdel-Hamid, Mohamed S., Zaki, Maha S., Gleeson, Joseph G.

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mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly von Garcia, Camila A. B., Carvalho, Simone C. S., Yang, Xiaoxu, Ball, Laurel L., George, Renee D., James, Kiely N., Stanley, Valentina, Breuss, Martin W., Thomé, Ursula, Santos, Marcelo V., Saggioro, Fabiano P., Neder Serafini, Luciano, Silva, Wilson A., Gleeson, Joseph G., Machado, Hélio R.

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561 Characterization of glucose values in labor by continuous glucose monitoring in gravidas without diabetes mellitus von Pinson, Kelsey, Stanley, Valentina, Kim, Jane J., Sharma, Navyaa, Kobayashi, Emily, Majithia, Amit, Ramos, Gladys A.

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787 Glycemic control in labor: Comparing time in range (TIR) among gravidas with and without pre-gestational diabetes von Pinson, Kelsey, Kim, Jane J., Gottesman, Bethany, Stanley, Valentina, Sharma, Navyaa, Kobayashi, Emily, Majithia, Amit, Ramos, Gladys A.

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Developmental and temporal characteristics of clonal sperm mosaicism von Yang, Xiaoxu, Breuss, Martin W., Xu, Xin, Antaki, Danny, James, Kiely N., Stanley, Valentina, Ball, Laurel L., George, Renee D., Wirth, Sara A., Cao, Beibei, Nguyen, An, McEvoy-Venneri, Jennifer, Chai, Guoliang, Nahas, Shareef, Van Der Kraan, Lucitia, Ding, Yan, Sebat, Jonathan, Gleeson, Joseph G.

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Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors von Li, Hongda, Saucedo-Cuevas, Laura, Yuan, Ling, Ross, Danica, Johansen, Anide, Sands, Daniel, Stanley, Valentina, Guemez-Gamboa, Alicia, Gregor, Anne, Evans, Todd, Chen, Shuibing, Tan, Lei, Molina, Henrik, Sheets, Nicholas, Shiryaev, Sergey A., Terskikh, Alexey V., Gladfelter, Amy S., Shresta, Sujan, Xu, Zhiheng, Gleeson, Joseph G.

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Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain von Chung, Changuk, Yang, Xiaoxu, Hevner, Robert F., Kennedy, Katie, Vong, Keng Ioi, Liu, Yang, Patel, Arzoo, Nedunuri, Rahul, Barton, Scott T., Noel, Geoffroy, Barrows, Chelsea, Stanley, Valentina, Mittal, Swapnil, Breuss, Martin W., Schlachetzki, Johannes C. M., Kingsmore, Stephen F., Gleeson, Joseph G.

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Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation von von Elsner, Leonie, Chai, Guoliang, Schneeberger, Pauline E, Harms, Frederike L, Casar, Christian, Qi, Minyue, Alawi, Malik, Abdel-Salam, Ghada M H, Zaki, Maha S, Arndt, Florian, Yang, Xiaoxu, Stanley, Valentina, Hempel, Maja, Gleeson, Joseph G, Kutsche, Kerstin

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Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia von Marin-Valencia, Isaac, Gerondopoulos, Andreas, Zaki, Maha S., Ben-Omran, Tawfeg, Almureikhi, Mariam, Demir, Ercan, Guemez-Gamboa, Alicia, Gregor, Anne, Issa, Mahmoud Y., Appelhof, Bart, Roosing, Susanne, Musaev, Damir, Rosti, Basak, Wirth, Sara, Stanley, Valentina, Baas, Frank, Barr, Francis A., Gleeson, Joseph G.

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Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development von Chung, Changuk, Yang, Xiaoxu, Bae, Taejeong, Vong, Keng Ioi, Mittal, Swapnil, Donkels, Catharina, Westley Phillips, H., Li, Zhen, Marsh, Ashley P. L., Breuss, Martin W., Ball, Laurel L., Garcia, Camila Araújo Bernardino, George, Renee D., Gu, Jing, Xu, Mingchu, Barrows, Chelsea, James, Kiely N., Stanley, Valentina, Nidhiry, Anna S., Khoury, Sami, Howe, Gabrielle, Riley, Emily, Xu, Xin, Copeland, Brett, Wang, Yifan, Kim, Se Hoon, Kang, Hoon-Chul, Schulze-Bonhage, Andreas, Haas, Carola A., Urbach, Horst, Prinz, Marco, Limbrick, David D., Gurnett, Christina A., Smyth, Matthew D., Sattar, Shifteh, Nespeca, Mark, Gonda, David D., Imai, Katsumi, Takahashi, Yukitoshi, Chen, Hsin-Hung, Tsai, Jin-Wu, Conti, Valerio, Guerrini, Renzo, Devinsky, Orrin, Silva, Wilson A., Machado, Helio R., Mathern, Gary W., Abyzov, Alexej, Baldassari, Sara, Baulac, Stéphanie, Gleeson, Joseph G.

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Whole transcriptome spatial profiling reveals the location of distinct cell subtypes and novel biomarkers in the human term placenta von Lindsay, Scott, Stanley, Valentina, Mason, Cayla, Flynn, William, Jacobs, Marni, Rodriguez-Soto, Ana, Nasamran, Chanond, Courtois, Elise, Sivajothi, Santhosh, Rakow-Penner, Rebecca, Robson, Paul, Parast, Mana, Fisch, Kathleen, Laurent, Louise C.

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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function von Zilmer, Monica, Edmondson, Andrew C., Khetarpa, Sumeet A., Alesi, Viola, Zaki, Maha S., Rostasy, Kevin, Madsen, Camilla G., Lepri, Francesca R., Sinibaldi, Lorenzo, Cusmai, Raffaella, Novelli, Antonio, Issa, Mahmoud Y., Fenger, Christina D., Abou Jamra, Rami, Reutter, Heiko, Briuglia, Silvana, Agolini, Emanuele, Hansen, Lars, Petaja-Repo, Ulla E., Hintze, John, Raymond, Kimiyo M., Liedtke, Kristen, Stanley, Valentina, Musaev, Damir, Gleeson, Joseph G., Vitali, Cecilia, O'Brien, W. Timothy, Gardella, Elena, Rubboli, Guido, Rader, Daniel J., Schjoldager, Katrine T., Moller, Rikke S.

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