Human genetics and molecular genomics of Chiari malformation type 1

Authors: Mekbib, Kedous Y., Muñoz, William, Allington, Garrett, McGee, Stephen, Mehta, Neel H., Shofi, John P., Fortes, Carla, Le, Hao Thi, Nelson-Williams, Carol, Nanda, Pranav, Dennis, Evan, Kundishora, Adam J., Khanna, Arjun, Smith, Hannah, Ocken, Jack, Greenberg, Ana B.W., Wu, Rui, Moreno-De-Luca, Andres, DeSpenza, Tyrone, Jr, Zhao, Shujuan, Marlier, Arnaud, Jin, Sheng Chih, Alper, Seth L., Butler, William E., Kahle, Kristopher T.

Source: In Trends in Molecular Medicine December 2023 29(12):1059-1075

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children

Authors: Ahmad, Natalie, Fazeli, Walid, Schließke, Sophia, Lesca, Gaetan, Gokce-Samar, Zeynep, Mekbib, Kedous Y., Jin, Sheng Chih, Burton, Jennifer, Hoganson, George, Petersen, Andrea, Gracie, Sara, Granger, Leslie, Bartels, Enrika, Oppermann, Henry, Kundishora, Adam, Till, Marianne, Milleret-Pignot, Clara, Dangerfield, Shane, Viskochil, David, Anderson, Katherine J., Palculict, Timothy Blake, Schnur, Rhonda E., Wentzensen, Ingrid M., Tiller, George E., Kahle, Kristopher T., Kunz, Wolfram S., Burkart, Sebastian, Simons, Matias, Sticht, Heinrich, Abou Jamra, Rami, Neuser, Sonja

Source: In Pediatric Neurology November 2023 148:164-171

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

Authors: Duy, Phan Q^1,2,3, Jux, Bettina⁴, Zhao, Shujuan^5,6, Mekbib, Kedous Y^2,6, Dennis, Evan⁶, Dong, Weilai⁷, Nelson-Williams, Carol⁸, Mehta, Neel H⁶, Shohfi, John P^2,6, Juusola, Jane⁹, Allington, Garrett^2,6, Smith, Hannah^2,6, Marlin, Sandrine¹⁰, Belhous, Kahina¹¹, Monteleone, Berrin¹², Schaefer, G Bradley¹³, Pisarska, Margareta D¹⁴, Vásquez, Jaime¹², Estrada-Veras, Juvianee I^15,16, Keren, Boris¹⁷

Source: Brain: A Journal of Neurology; Dec2024, Vol. 147 Issue 12, p4292-4305, 14p

The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus

Authors: Robert, Stephanie M., Reeves, Benjamin C., Kiziltug, Emre, Duy, Phan Q., Karimy, Jason K., Mansuri, M. Shahid, Marlier, Arnaud, Allington, Garrett, Greenberg, Ana B.W., DeSpenza, Tyrone, Singh, Amrita K., Zeng, Xue, Mekbib, Kedous Y., Kundishora, Adam J., Nelson-Williams, Carol, Hao, Le Thi, Zhang, Jinwei, Lam, TuKiet T., Wilson, Rashaun, Butler, William E., Diluna, Michael L., Feinberg, Philip, Schafer, Dorothy P., Movahedi, Kiavash, Tannenbaum, Allen, Koundal, Sunil, Chen, Xinan, Benveniste, Helene, Limbrick, David D., Schiff, Steven J., Carter, Bob S., Gunel, Murat, Simard, J. Marc, Lifton, Richard P., Alper, Seth L., Delpire, Eric, Kahle, Kristopher T.

Source: Cell. 186(4):764-785.e21

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100183188048.0x000001&indx=1&recIds=ETOCvdc_100183188048.0x000001

Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.

Authors: DeSpenza Jr, Tyrone, Singh, Amrita, Allington, Garrett, Shujuan Zhao, Junghoon Lee, Kiziltug, Emre, Prina, Mackenzi L., Desmet, Nicole, Dang, Huy Q., Fields, Jennifer, Nelson-Williams, Carol, Junhui Zhang, Mekbib, Kedous Y., Dennis, Evan, Mehta, Neel H., Duy, Phan Q., Shimelis, Hermela, Walsh, Lauren K., Marlier, Arnaud, Deniz, Engin

Source: Proceedings of the National Academy of Sciences of the United States of America; 7/2/2024, Vol. 121 Issue 27, p1-12, 19p

Subject Terms: AUTISM spectrum disorders, CEREBRAL ventricles, GENETIC variation, HYDROCEPHALUS, MICROTUBULES, CHILDREN with autism spectrum disorders

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.

Authors: Singh, Amrita K^1,2, Allington, Garrett^1,2,3, Viviano, Stephen⁴, McGee, Stephen⁵, Kiziltug, Emre^1,2, Ma, Shaojie^3,6, Zhao, Shujuan^2,7, Mekbib, Kedous Y^1,2, Shohfi, John P^1,2, Duy, Phan Q^1,2,6, DeSpenza, Tyrone^1,2,6, Furey, Charuta G¹, Reeves, Benjamin C^1,2, Smith, Hannah^1,2, Sousa, André M M⁸, Cherskov, Adriana⁶, Allocco, August¹, Nelson-Williams, Carol³, Haider, Shozeb^9,10, Rizvi, Syed R A⁹

Source: Brain: A Journal of Neurology; Apr2024, Vol. 147 Issue 4, p1553-1570, 18p

Utility of cortical tissue analysis in normal pressure hydrocephalus.

Authors: Greenberg, Ana B W, Mekbib, Kedous Y, Mehta, Neel H, Kiziltug, Emre, Duy, Phan Q, Smith, Hannah R, Junkkari, Antti, Leinonen, Ville, Hyman, Bradley T, Chan, Diane, Jr, William T Curry, Arnold, Steven E, II, Frederick G Barker, Frosch, Matthew P, Kahle, Kristopher T

Source: Cerebral Cortex; Feb2024, Vol. 34 Issue 2, p1-13, 13p

345 Structural Cardiac Defects and Vascular Anomalies in Vein of Galen Malformation Patients: A Multi-Institutional Cohort With Genetic Sequencing

Authors: Piwowarczyk, Paulina, Moyer, Quentin, Mekbib, Kedous Y., Kappel, Ari D., Zhao, Shujuan, Shohfi, John, Smith, Hannah, Orbach, Darren, See, Alfred P., Smith, Edward R., Kahle, Kristopher

Source: Neurosurgery. 69(1):55-55

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190135640.0x000001&indx=1&recIds=ETOCvdc_100190135640.0x000001

169 Exome Sequencing Implicates Endothelial Ras Signaling Network in Vein of Galen Aneurysmal Malformation

Authors: Mekbib, Kedous Y., Zhao, Shujuan, Nelson-Williams, Carol, Prendergast, Andrew, Zeng, Xue, Rolle, Myron, Shohfi, John, Smith, Hannah, Ocken, Jack, Moyer, Quentin, Piwowarczyk, Paulina, Allington, Garrett, Dong, Weilai, van der Ent, Martijn A., Chen, Di, Li, Boyang, Duran, Daniel, Mane, Shrikant M., Walcott, Brian Patrick, Stapleton, Christopher J., Aagaard-Kienitz, Beverly, Rodesch, Georges, Jackson, Eric M., Smith, Edward R., Orbach, Darren, Berenstein, Alejandro, Bilguvar, Kaya, Zhao, Hongyu, Erson-Omay, Zeynep, King, Philip D., Huttner, Anita, Lifton, Richard, Boggon, Titus, Nicoli, Stefania, Jin, Sheng Chih, Kahle, Kristopher

Source: Neurosurgery. 69(1):22-22

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190133957.0x000001&indx=1&recIds=ETOCvdc_100190133957.0x000001

Cases of familial idiopathic normal pressure hydrocephalus implicate genetic factors in disease pathogenesis.

Authors: Greenberg, Ana B W, Mehta, Neel H, Mekbib, Kedous Y, Kiziltug, Emre, Smith, Hannah R, Hyman, Bradley T, Chan, Diane, Curry Jr., William T, Arnold, Steven E, Frosch, Matthew P, Duy, Phan Q, Kahle, Kristopher T

Source: Cerebral Cortex; Dec2023, Vol. 33 Issue 23, p11400-11407, 8p

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Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

Authors: Kundishora, Adam J., Allington, Garrett, McGee, Stephen, Mekbib, Kedous Y., Gainullin, Vladimir, Timberlake, Andrew T., Nelson-Williams, Carol, Kiziltug, Emre, Smith, Hannah, Ocken, Jack, Shohfi, John, Allocco, August, Duy, Phan Q., Elsamadicy, Aladine A., Dong, Weilai, Zhao, Shujuan, Wang, Yung-Chun, Qureshi, Hanya M., DiLuna, Michael L., Mane, Shrikant, Tikhonova, Irina R., Fu, Po-Ying, Castaldi, Christopher, López-Giráldez, Francesc, Knight, James R., Furey, Charuta G., Carter, Bob S., Haider, Shozeb, Moreno-De-Luca, Andres, Alper, Seth L., Gunel, Murat, Millan, Francisca, Lifton, Richard P., Torene, Rebecca I., Jin, Sheng Chih, Kahle, Kristopher T.

Source: Nature Medicine; March 2023, Vol. 29 Issue: 3 p667-678, 12p

Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy.

Authors: Wang, Yung-Chun, Wu, Yuchang, Choi, Julie, Allington, Garrett, Zhao, Shujuan, Khanfar, Mariam, Yang, Kuangying, Fu, Po-Ying, Wrubel, Max, Yu, Xiaobing, Mekbib, Kedous Y., Ocken, Jack, Smith, Hannah, Shohfi, John, Kahle, Kristopher T., Lu, Qiongshi, Jin, Sheng Chih

Source: Journal of Personalized Medicine; Feb2022, Vol. 12 Issue 2, pN.PAG-N.PAG, 1p

Subject Terms: GENE therapy, INDIVIDUALIZED medicine, GENETIC variation, GENOMICS, ETIOLOGY of diseases