A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts

по Milunsky, Aubrey, Milunsky, Jeff M., Dong, Weilai, Hovhannisyan, Hayk, Oates, Robert D.
Опубликовано в: J Assist Reprod Genet (2020)

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9

по Antwi, Prince, Hong, Christopher S., Duran, Daniel, Jin, Sheng Chih, Dong, Weilai, DiLuna, Michael, Kahle, Kristopher T.
Опубликовано в: Cold Spring Harb Mol Case Stud (2018)

Analysis workflow to assess de novo genetic variants from human whole-exome sequencing

по Diab, Nicholas S., King, Spencer, Dong, Weilai, Allington, Garrett, Sheth, Amar, Peters, Samuel T., Kahle, Kristopher T., Jin, Sheng Chih
Опубликовано в: STAR Protoc (2021)

Exome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus

по Sullivan, William, Reeves, Benjamin C., Duy, Phan Q., Nelson-Williams, Carol, Dong, Weilai, Jin, Sheng Chih, Kahle, Kristopher T.
Опубликовано в: JAMA Pediatr (2020)

Molecular Genetics and Complex Inheritance of Congenital Heart Disease

по Diab, Nicholas S., Barish, Syndi, Dong, Weilai, Zhao, Shujuan, Allington, Garrett, Yu, Xiaobing, Kahle, Kristopher T., Brueckner, Martina, Jin, Sheng Chih
Опубликовано в: Genes (Basel) (2021)

SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus

по 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.
Опубликовано в: Mol Genet Genomic Med (2019)

Dual inhibiting OCT4 and AKT potently suppresses the propagation of human cancer cells

по Li, Wenxin, Zhou, Yanwen, Zhang, Xiaoqian, Yang, Ying, Dan, Songsong, Su, Tong, She, Shiqi, Dong, Weilai, Zhao, Qingwei, Jia, Jia, Yao, Hangping, Zheng, Min, Kang, Bo, Wang, Ying-Jie
Опубликовано в: Sci Rep (2017)

De novo MYH9 mutation in congenital scalp hemangioma

по Fomchenko, Elena I., Duran, Daniel, Jin, Sheng Chih, Dong, Weilai, Erson-Omay, E. Zeynep, Antwi, Prince, Allocco, August, Gaillard, Jonathan R., Huttner, Anita, Gunel, Murat, DiLuna, Michael L., Kahle, Kristopher T.
Опубликовано в: Cold Spring Harb Mol Case Stud (2018)

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

по 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.
Опубликовано в: Front Cell Neurosci (2019)

Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice

по Hwang, Jae Yeon, Nawaz, Shoaib, Choi, Jungmin, Wang, Huafeng, Hussain, Shabir, Nawaz, Mehboob, Lopez-Giraldez, Francesc, Jeong, Kyungjo, Dong, Weilai, Oh, Jong-Nam, Bilguvar, Kaya, Mane, Shrikant, Lee, Chang-Kyu, Bystroff, Christopher, Lifton, Richard P., Ahmad, Wasim, Chung, Jean-Ju
Опубликовано в: Front Cell Dev Biol (2021)

Impaired HLA Class I Antigen Processing and Presentation as a Mechanism of Acquired Resistance to Immune Checkpoint Inhibitors in Lung Cancer

по Gettinger, Scott, Choi, Jungmin, Hastings, Katherine, Truini, Anna, Datar, Ila, Sowell, Ryan, Wurtz, Anna, Dong, Weilai, Cai, Guoping, Ann Melnick, Mary, Du, Victor Y., Schlessinger, Joseph, Goldberg, Sarah B., Chiang, Anne, Sanmamed, Miguel F., Melero, Ignacio, Agorreta, Jackeline, Montuenga, Luis, Lifton, Richard, Ferrone, Soldano, Kavathas, Paula, Rimm, David L., Kaech, Susan M., Schalper, Kurt, Herbst, Roy S., Politi, Katerina
Опубликовано в: Cancer Discov (2017)

Expression analysis and significance of PD-1, LAG-3 and TIM-3 in human non-small cell lung cancer using spatially-resolved and multiparametric single-cell analysis.

по Datar, Ila, Sanmamed, Miguel F., Wang, Jun, Henick, Brian S., Choi, Jungmin, Badri, Ti, Dong, Weilai, Mani, Nikita, Toki, Maria, Mejías, Luis D, Lozano, Maria D, Perez-Gracia, Jose Luis, Velcheti, Vamsidhar, Hellmann, Matthew D., Gainor, Justin F., McEachern, Kristen, Jenkins, David, Syrigos, Konstantinos, Politi, Katerina, Gettinger, Scott, Rimm, David L, Herbst, Roy S., Melero, Ignacio, Chen, Lieping, Schalper, Kurt A.
Опубликовано в: Clin Cancer Res (2019)

Mutational landscape of primary, metastatic, and recurrent ovarian cancer reveals c-MYC gains as potential target for BET inhibitors

по Li, Charles, Bonazzoli, Elena, Bellone, Stefania, Choi, Jungmin, Dong, Weilai, Menderes, Gulden, Altwerger, Gary, Han, Chanhee, Manzano, Aranzazu, Bianchi, Anna, Pettinella, Francesca, Manara, Paola, Lopez, Salvatore, Yadav, Ghanshyam, Riccio, Francesco, Zammataro, Luca, Zeybek, Burak, Yang-Hartwich, Yang, Buza, Natalia, Hui, Pei, Wong, Serena, Ravaggi, Antonella, Bignotti, Eliana, Romani, Chiara, Todeschini, Paola, Zanotti, Laura, Zizioli, Valentina, Odicino, Franco, Pecorelli, Sergio, Ardighieri, Laura, Silasi, Dan-Arin, Litkouhi, Babak, Ratner, Elena, Azodi, Masoud, Huang, Gloria S., Schwartz, Peter E., Lifton, Richard P., Schlessinger, Joseph, Santin, Alessandro D.
Опубликовано в: Proc Natl Acad Sci U S A (2019)

Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy

по Zammataro, Luca, Lopez, Salvatore, Bellone, Stefania, Pettinella, Francesca, Bonazzoli, Elena, Perrone, Emanuele, Zhao, Siming, Menderes, Gulden, Altwerger, Gary, Han, Chanhee, Zeybek, Burak, Bianchi, Anna, Manzano, Aranzazu, Manara, Paola, Cocco, Emiliano, Buza, Natalia, Hui, Pei, Wong, Serena, Ravaggi, Antonella, Bignotti, Eliana, Romani, Chiara, Todeschini, Paola, Zanotti, Laura, Odicino, Franco, Pecorelli, Sergio, Donzelli, Carla, Ardighieri, Laura, Angioli, Roberto, Raspagliesi, Francesco, Scambia, Giovanni, Choi, Jungmin, Dong, Weilai, Bilguvar, Kaya, Alexandrov, Ludmil B., Silasi, Dan-Arin, Huang, Gloria S., Ratner, Elena, Azodi, Masoud, Schwartz, Peter E., Pirazzoli, Valentina, Stiegler, Amy L., Boggon, Titus J., Lifton, Richard P., Schlessinger, Joseph, Santin, Alessandro D.
Опубликовано в: Proc Natl Acad Sci U S A (2019)

Integrated mutational landscape analysis of uterine leiomyosarcomas

по Choi, Jungmin, Manzano, Aranzazu, Dong, Weilai, Bellone, Stefania, Bonazzoli, Elena, Zammataro, Luca, Yao, Xiaotong, Deshpande, Aditya, Zaidi, Samir, Guglielmi, Adele, Gnutti, Barbara, Nagarkatti, Nupur, Tymon-Rosario, Joan R., Harold, Justin, Mauricio, Dennis, Zeybek, Burak, Menderes, Gulden, Altwerger, Gary, Jeong, Kyungjo, Zhao, Siming, Buza, Natalia, Hui, Pei, Ravaggi, Antonella, Bignotti, Eliana, Romani, Chiara, Todeschini, Paola, Zanotti, Laura, Odicino, Franco, Pecorelli, Sergio, Ardighieri, Laura, Bilguvar, Kaya, Quick, Charles M., Silasi, Dan-Arin, Huang, Gloria S., Andikyan, Vaagn, Clark, Mitchell, Ratner, Elena, Azodi, Masoud, Imielinski, Marcin, Schwartz, Peter E., Alexandrov, Ludmil B., Lifton, Richard P., Schlessinger, Joseph, Santin, Alessandro D.
Опубликовано в: Proc Natl Acad Sci U S A (2021)

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

по 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.
Опубликовано в: iScience (2020)

DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease

по Kundishora, Adam J., Peters, Samuel T., Pinard, Amélie, Duran, Daniel, Panchagnula, Shreyas, Barak, Tanyeri, Miyagishima, Danielle F., Dong, Weilai, Smith, Hannah, Ocken, Jack, Dunbar, Ashley, Nelson-Williams, Carol, Haider, Shozeb, Walker, Rebecca L., Li, Boyang, Zhao, Hongyu, Thumkeo, Dean, Marlier, Arnaud, Duy, Phan Q., Diab, Nicholas S., Reeves, Benjamin C., Robert, Stephanie M., Sujijantarat, Nanthiya, Stratman, Amber N., Chen, Yi-Hsien, Zhao, Shujuan, Roszko, Isabelle, Lu, Qiongshi, Zhang, Bo, Mane, Shrikant, Castaldi, Christopher, López-Giráldez, Francesc, Knight, James R., Bamshad, Michael J., Nickerson, Deborah A., Geschwind, Daniel H., Chen, Shih-Shan Lang, Storm, Phillip B., Diluna, Michael L., Matouk, Charles C., Orbach, Darren B., Alper, Seth L., Smith, Edward R., Lifton, Richard P., Gunel, Murat, Milewicz, Dianna M., Jin, Sheng Chih, Kahle, Kristopher T.
Опубликовано в: JAMA Neurol (2021)

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

по 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.
Опубликовано в: Nat Med (2020)