Xp22.2 Chromosomal Duplication in Familial Intracranial Arachnoid Cyst

অনুযায়ী Furey, Charuta G., Timberlake, Andrew T., Nelson-Williams, Carol, Duran, Daniel, Li, Peining, Jackson, Eric M., Kahle, Kristopher T.
প্রকাশিত JAMA Neurol (2017)

Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus

অনুযায়ী Date, Priya, Ackermann, Pascal, Furey, Charuta, Fink, Ina Berenice, Jonas, Stephan, Khokha, Mustafa K., Kahle, Kristopher T., Deniz, Engin
প্রকাশিত Sci Rep (2019)

Author Correction: Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus

অনুযায়ী Date, Priya, Ackermann, Pascal, Furey, Charuta, Fink, Ina Berenice, Jonas, Stephan, Khokha, Mustafa K., Kahle, Kristopher T., Deniz, Engin
প্রকাশিত Sci Rep (2020)

Abstract 82: De novo Mutation Burden Reveals Novel Molecular Subtypes of Non-syndromic Craniosynostosis

অনুযায়ী Timberlake, Andrew T., Furey, Charuta G., Choi, Jungmin, Nelson-Williams, Carol, Steinbacher, Derek M., Larysz, Dawid, Persing, John A., Lifton, Richard P.
প্রকাশিত Plast Reconstr Surg Glob Open (2018)

9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus

অনুযায়ী Furey, Charuta, Antwi, Prince, Duran, Daniel, Timberlake, Andrew T., Nelson-Williams, Carol, Matouk, Charles C., DiLuna, Michael L., Günel, Murat, Kahle, Kristopher T.
প্রকাশিত Cold Spring Harb Mol Case Stud (2018)

Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis

অনুযায়ী Timberlake, Andrew T., Wu, Robin, Nelson-Williams, Carol, Furey, Charuta G., Hildebrand, Kristi I., Elton, Scott W., Wood, Jeyhan S., Persing, John A., Lifton, Richard P.
প্রকাশিত Hum Genome Var (2018)

SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus

অনুযায়ী Jin, Sheng Chih, Furey, Charuta G., Zeng, Xue, Allocco, August, Nelson‐Williams, Carol, Dong, Weilai, Karimy, Jason K., Wang, Kevin, Ma, Shaojie, Delpire, Eric, Kahle, Kristopher T.
প্রকাশিত Mol Genet Genomic Med (2019)

De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis

অনুযায়ী Timberlake, Andrew T., Furey, Charuta G., Choi, Jungmin, Nelson-Williams, Carol, Loring, Erin, Galm, Amy, Kahle, Kristopher T., Steinbacher, Derek M., Larysz, Dawid, Persing, John A., Lifton, Richard P.
প্রকাশিত Proc Natl Acad Sci U S A (2017)

Malignant Cerebellar Edema Subsequent to Accidental Prescription Opioid Intoxication in Children

অনুযায়ী Duran, Daniel, Messina, Robert D., Beslow, Lauren A., Montejo, Julio D., Karimy, Jason K., Gavankar Furey, Charuta, Sheridan, Alison D., Sze, Gordon, Yarman, Yanki, DiLuna, Michael L., Kahle, Kristopher T.
প্রকাশিত Front Neurol (2017)

Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3

অনুযায়ী Allocco, August A., Jin, Sheng Chih, Duy, Phan Q., Furey, Charuta G., Zeng, Xue, Dong, Weilai, Nelson-Williams, Carol, Karimy, Jason K., DeSpenza, Tyrone, Hao, Le T., Reeves, Benjamin, Haider, Shozeb, Gunel, Murat, Lifton, Richard P., Kahle, Kristopher T.
প্রকাশিত Front Cell Neurosci (2019)

Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis

অনুযায়ী Timberlake, Andrew T., Jin, Sheng Chih, Nelson-Williams, Carol, Wu, Robin, Furey, Charuta G., Islam, Barira, Haider, Shozeb, Loring, Erin, Galm, Amy, Steinbacher, Derek M., Larysz, Dawid, Staffenberg, David A., Flores, Roberto L., Rodriguez, Eduardo D., Boggon, Titus J., Persing, John A., Lifton, Richard P.
প্রকাশিত Proc Natl Acad Sci U S A (2019)

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

অনুযায়ী 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., Simard, J. Marc, Eskandar, Emad N., Gottschalk, Christopher, Moliterno, Jennifer, Günel, Murat, Gerrard, Jason L., Dib-Hajj, Sulayman, Waxman, Stephen G., Barker, Fred G., Alper, Seth L., Chahine, Mohamed, Haider, Shozeb, De Koninck, Yves, Lifton, Richard P., Kahle, Kristopher T.
প্রকাশিত iScience (2020)

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

অনুযায়ী 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.
প্রকাশিত Neuron (2018)

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

অনুযায়ী Jin, Sheng Chih, Dong, Weilai, Kundishora, Adam J., Panchagnula, Shreyas, Moreno-De-Luca, Andres, Furey, Charuta G., Allocco, August A., Walker, Rebecca L., Nelson-Williams, Carol, Smith, Hannah, Dunbar, Ashley, Conine, Sierra, Lu, Qiongshi, Zeng, Xue, Sierant, Michael C., Knight, James R., Sullivan, William, Duy, Phan Q., DeSpenza, Tyrone, Reeves, Benjamin C., Karimy, Jason K., Marlier, Arnaud, Castaldi, Christopher, Tikhonova, Irina R., Li, Boyang, Peña, Helena Perez, Broach, James R., Kabachelor, Edith M., Ssenyonga, Peter, Hehnly, Christine, Ge, Li, Keren, Boris, Timberlake, Andrew T., Goto, June, Mangano, Francesco T., Johnston, James M., Butler, William E., Warf, Benjamin C., Smith, Edward R., Schiff, Steven J., Limbrick, David D., Heuer, Gregory, Jackson, Eric M., Iskandar, Bermans J., Mane, Shrikant, Haider, Shozeb, Guclu, Bulent, Bayri, Yasar, Sahin, Yener, Duncan, Charles C., Apuzzo, Michael L. J., DiLuna, Michael L., Hoffman, Ellen J., Sestan, Nenad, Ment, Laura R., Alper, Seth L., Bilguvar, Kaya, Geschwind, Daniel H., Günel, Murat, Lifton, Richard P., Kahle, Kristopher T.
প্রকাশিত Nat Med (2020)