Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

Authors: Dong, Weilai, Jin, Sheng Chih, Allocco, August, Zeng, Xue, Sheth, Amar H., Panchagnula, Shreyas, Castonguay, Annie, Lorenzo, Louis-Étienne, Islam, Barira, Brindle, Geneviève, Bachand, Karine, Hu, Jamie, Sularz, Agata, Gaillard, Jonathan, Choi, Jungmin, Dunbar, Ashley, Nelson-Williams, Carol, Kiziltug, Emre, Furey, Charuta Gavankar, Conine, Sierra, Duy, Phan Q., Kundishora, Adam J., Loring, Erin, Li, Boyang, Lu, Qiongshi, Zhou, Geyu, Liu, Wei, Li, Xinyue, Sierant, Michael C., Mane, Shrikant, Castaldi, Christopher, López-Giráldez, Francesc, Knight, James R., Sekula, Raymond F., Jr., Simard, J. Marc, Eskandar, Emad N., Gottschalk, Christopher, Moliterno, Jennifer, Günel, Murat, Gerrard, Jason L., Dib-Hajj, Sulayman, Waxman, Stephen G., Barker, Fred G., II, Alper, Seth L., Chahine, Mohamed, Haider, Shozeb, De Koninck, Yves, Lifton, Richard P., Kahle, Kristopher T.

Source: In iScience 23 October 2020 23(10)

EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease

Authors: Zeng, Xue, Hunt, Ava, Jin, Sheng Chih, Duran, Daniel, Gaillard, Jonathan, Kahle, Kristopher T.

Source: In Trends in Molecular Medicine April 2019 25(4):265-286

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

Authors: Duran, Daniel, Zeng, Xue, Jin, Sheng Chih, Choi, Jungmin, Nelson-Williams, Carol, Yatsula, Bogdan, Gaillard, Jonathan, Furey, Charuta Gavankar, Lu, Qiongshi, Timberlake, Andrew T., Dong, Weilai, Sorscher, Michelle A., Loring, Erin, Klein, Jennifer, Allocco, August, Hunt, Ava, Conine, Sierra, Karimy, Jason K., Youngblood, Mark W., Zhang, Jinwei, DiLuna, Michael L., Matouk, Charles C., Mane, Shrikant, Tikhonova, Irina R., Castaldi, Christopher, López-Giráldez, Francesc, Knight, James, Haider, Shozeb, Soban, Mariya, Alper, Seth L., Komiyama, Masaki, Ducruet, Andrew F., Zabramski, Joseph M., Dardik, Alan, Walcott, Brian P., Stapleton, Christopher J., Aagaard-Kienitz, Beverly, Rodesch, Georges, Jackson, Eric, Smith, Edward R., Orbach, Darren B., Berenstein, Alejandro, Bilguvar, Kaya, Vikkula, Miikka, Gunel, Murat, Lifton, Richard P., Kahle, Kristopher T.

Source: In Neuron 6 February 2019 101(3):429-443

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

Authors: Furey, Charuta Gavankar, Choi, Jungmin, Jin, Sheng Chih, Zeng, Xue, Timberlake, Andrew T., Nelson-Williams, Carol, Mansuri, M. Shahid, Lu, Qiongshi, Duran, Daniel, Panchagnula, Shreyas, Allocco, August, Karimy, Jason K., Khanna, Arjun, Gaillard, Jonathan R., DeSpenza, Tyrone, Antwi, Prince, Loring, Erin, Butler, William E., Smith, Edward R., Warf, Benjamin C., Strahle, Jennifer M., Limbrick, David D., Storm, Phillip B., Heuer, Gregory, Jackson, Eric M., Iskandar, Bermans J., Johnston, James M., Tikhonova, Irina, Castaldi, Christopher, López-Giráldez, Francesc, Bjornson, Robert D., Knight, James R., Bilguvar, Kaya, Mane, Shrikant, Alper, Seth L., Haider, Shozeb, Guclu, Bulent, Bayri, Yasar, Sahin, Yener, Apuzzo, Michael L.J., Duncan, Charles C., DiLuna, Michael L., Günel, Murat, Lifton, Richard P., Kahle, Kristopher T.

Source: In Neuron 25 July 2018 99(2):302-314

Human genetics and molecular mechanisms of vein of Galen malformation

Authors: Duran, Daniel, Karschnia, Philipp, Gaillard, Jonathan R., Karimy, Jason K., Youngblood, Mark W.

Source: Journal of neurosurgery.Pediatrics. 21(4):367-374

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN615358240&indx=1&recIds=ETOCRN615358240

Incidence, clinical features, and treatment of familial moyamoya in pediatric patients: a single-institution series

Authors: Gaillard, Jonathan, Klein, Jennifer, Duran, Daniel, Storey, Armide, Scott, R. Michael, Kahle, Kristopher, Smith, Edward R.

Source: Journal of neurosurgery.Pediatrics. 19(5):553-559

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN611074527&indx=1&recIds=ETOCRN611074527

Novel determinants of mammalian primary microRNA processing revealed by systematic evaluation of hairpin-containing transcripts and human genetic variation

Authors: Roden, Christine, Gaillard, Jonathan, Kanoria, Shaveta, Rennie, William, Barish, Syndi, Cheng, Jijun, Pan, Wen, Liu, Jun, Cotsapas, Chris, Ding, Ye

Source: Genome research. 27(3):374-384

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN610306262&indx=1&recIds=ETOCRN610306262

Necrotizing Enterocolitis following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series

Authors: Gaillard, Jonathan, Gu, Andrew Ran, Neil Knierbein, Erin E.

Source: In The Journal of Pediatrics September 2023 260

Macro fat and micro fat: insulin sensitivity and gender dependent response of adipose tissue to isocaloric diet change

Authors: Li, Yanjun, Gaillard, Jonathan R, McLaughlin, Tracey, Sørensen, Thorkild IA, Periwal, Vipul

Source: Adipocyte. 4(4):256-263

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100050602631.0x000001&indx=1&recIds=ETOCvdc_100050602631.0x000001

Pearls & Oy-sters: Whole-Genome Sequencing in Critically Ill Neurologic Patient Leads to Diagnosis With Treatment Implications.

Authors: Gaillard, Jonathan Read, Whitt, Zachary, Selwa, Linda M., Harris, David, Lee, Kristen N.

Source: Neurology; 9/6/2023, Vol. 101 Issue 13, p588-592, 5p

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Mathematical Models of Adipose Tissue Dynamics.

Authors: Jo, Junghyo, Shreif, Zeina, Gaillard, Jonathan R., Arroyo, Matilde, Cushman, Samuel W., Periwal, Vipul

Source: Mechanobiology of Obesity & Related Diseases; 2015, p11-34, 24p

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116 Exome Sequencing Uncovers Molecular Determinants of Trigeminal Neuralgia.

Authors: Choi, Jungmin, Zeng, Xue, Jin, Sheng Chih, Gaillard, Jonathan, Duran, Daniel, Nelson-Williams, Carol, Panchagnula, Shreyas, Dib-Hajj, Sulayman, Barker, Frederick G, Sekula, Raymond F

Source: Neurosurgery; 2018 Supplement, p85-86, 2p