A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype

por AbuBakr, Fatima, Jeffries, Lauren, Ji, Weizhen, McGrath, James M., Lakhani, Saquib A.
Publicado 2020

Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure

por Criscione, June, Ji, Weizhen, Jeffries, Lauren, McGrath, James M., Soloway, Scott, Pusztai, Lajos, Lakhani, Saquib
Publicado 2019

Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma

por Peng, Gang, Chai, Hongyan, Ji, Weizhen, Lu, Yufei, Wu, Shengming, Zhao, Hongyu, Li, Peining, Hu, Qiping
Publicado 2021

De novo damaging variants associated with congenital heart diseases contribute to the connectome

por Ji, Weizhen, Ferdman, Dina, Copel, Joshua, Scheinost, Dustin, Shabanova, Veronika, Brueckner, Martina, Khokha, Mustafa K., Ment, Laura R.
Publicado 2020

Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum

por Kiraly-Borri, Catherine, Jevon, Gareth, Ji, Weizhen, Jeffries, Lauren, Ricciardi, Jamie-Lee, Konstantino, Monica, Ackerman, Kate G., Lakhani, Saquib A.
Publicado 2019

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report

por Sandokji, Ibrahim, Marquez, Jonathan, Ji, Weizhen, Zerillo, Cynthia A., Konstantino, Monica, Lakhani, Saquib A., Khokha, Mustafa K., Warejko, Jillian K.
Publicado 2019

TBX5 variant with the novel phenotype of mixed-type total anomalous pulmonary venous return in Holt-Oram Syndrome and variable intrafamilial heart defects

por Azab, Bilal, Aburizeg, Dunia, Ji, Weizhen, Jeffries, Lauren, Isbeih, Nooredeen Jamal, Al-Akily, Amal Saleh, Mohammad, Hashim, Osba, Yousef Abu, Shahin, Mohammad A., Dardas, Zain, Hatmal, Ma'mon M., Al-Ammouri, Iyad, Lakhani, Saquib
Publicado 2022

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants

por Landim-Vieira, Maicon, Johnston, Jamie R., Ji, Weizhen, Mis, Emily K., Tijerino, Joshua, Spencer-Manzon, Michele, Jeffries, Lauren, Hall, E. Kevin, Panisello-Manterola, David, Khokha, Mustafa K., Deniz, Engin, Chase, P. Bryant, Lakhani, Saquib A., Pinto, Jose Renato
Publicado 2020

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes

por Marquez, Jonathan, Mann, Nina, Arana, Kathya, Deniz, Engin, Ji, Weizhen, Konstantino, Monica, Mis, Emily K, Deshpande, Charu, Jeffries, Lauren, McGlynn, Julie, Hugo, Hannah, Widmeier, Eugen, Konrad, Martin, Tasic, Velibor, Morotti, Raffaella, Baptista, Julia, Ellard, Sian, Lakhani, Saquib Ali, Hildebrandt, Friedhelm, Khokha, Mustafa K
Publicado 2021

Exome Sequencing Links Mutations in PARN and RTEL1 with Familial Pulmonary Fibrosis and Telomere Shortening

por Stuart, Bridget D., Choi, Jungmin, Zaidi, Samir, Xing, Chao, Holohan, Brody, Chen, Rui, Choi, Mihwa, Dharwadkar, Pooja, Torres, Fernando, Girod, Carlos E., Weissler, Jonathan, Fitzgerald, John, Kershaw, Corey, Klesney-Tait, Julia, Mageto, Yolanda, Shay, Jerry W., Ji, Weizhen, Bilguvar, Kaya, Mane, Shrikant, Lifton, Richard P., Garcia, Christine Kim
Publicado 2015

Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

por Griesi-Oliveira, Karina, Acab, Allan, Gupta, Abha R., Sunaga, Daniele Yumi, Chailangkarn, Thanathom, Nicol, Xavier, Nunez, Yanelli, Walker, Michael F., Murdoch, John D., Sanders, Stephan J., Fernandez, Thomas V., Ji, Weizhen, Lifton, Richard P., Vadasz, Estevão, Dietrich, Alexander, Pradhan, Dennis, Song, Hongjun, Ming, Guo-li, Guoe, Xiang, Haddad, Gabriel, Marchetto, Maria C. N., Spitzer, Nicholas, Passos-Bueno, Maria Rita, State, Matthew W., Muotri, Alysson R.
Publicado 2014

Variable CD18 expression in a 22‐year‐old female with leukocyte adhesion deficiency I: Clinical case and literature review

por Bondarenko, Anastasiia V., Boyarchuk, Oksana R., Sakovich, Inga S., Polyakova, Ekaterina A., Migas, Alexander A., Kupchinskaya, Aleksandra N., Opalinska, Aleksandra, Reich, Adam, Volianska, Liubov, Hilfanova, Anna M., Lapiy, Fedir I., Chernyshova, Liudmyla I., Volokha, Alla P., Zabara, Dariia V., Belevtsev, Mikhail V., Shman, Tatsiana V., Kukharenko, Lyudmila V., Goltsev, Mikhail V., Dubouskaya, Tatsiana G., Hancharou, Andrei Y., Ji, Weizhen, Lakhani, Saquib, Lucas, Carrie L., Aleinikova, Olga V., Sharapova, Svetlana O.
Publicado 2023

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

por Lemaire, Mathieu, Frémeaux-Bacchi, Véronique, Schaefer, Franz, Choi, Murim, Tang, Wai Ho, Le Quintrec, Moglie, Fakhouri, Fadi, Taque, Sophie, Nobili, François, Martinez, Frank, Ji, Weizhen, Overton, John D., Mane, Shrikant M., Nürnberg, Gudrun, Altmüller, Janine, Thiele, Holger, Morin, Denis, Deschenes, Georges, Baudouin, Véronique, Llanas, Brigitte, Collard, Laure, Majid, Mohammed A., Simkova, Eva, Nürnberg, Peter, Rioux-Leclerc, Nathalie, Moeckel, Gilbert W., Gubler, Marie Claire, Hwa, John, Loirat, Chantal, Lifton, Richard P.
Publicado 2013

Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae

por Lowe, Jennifer K., Maller, Julian B., Pe'er, Itsik, Neale, Benjamin M., Salit, Jacqueline, Kenny, Eimear E., Shea, Jessica L., Burkhardt, Ralph, Smith, J. Gustav, Ji, Weizhen, Noel, Martha, Foo, Jia Nee, Blundell, Maude L., Skilling, Vita, Garcia, Laura, Sullivan, Marcia L., Lee, Heather E., Labek, Anna, Ferdowsian, Hope, Auerbach, Steven B., Lifton, Richard P., Newton-Cheh, Christopher, Breslow, Jan L., Stoffel, Markus, Daly, Mark J., Altshuler, David M., Friedman, Jeffrey M.
Publicado 2009

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

por Alharatani, Reham, Ververi, Athina, Beleza-Meireles, Ana, Ji, Weizhen, Mis, Emily, Patterson, Quinten T, Griffin, John N, Bhujel, Nabina, Chang, Caitlin A, Dixit, Abhijit, Konstantino, Monica, Healy, Christopher, Hannan, Sumayyah, Neo, Natsuko, Cash, Alex, Li, Dong, Bhoj, Elizabeth, Zackai, Elaine H, Cleaver, Ruth, Baralle, Diana, McEntagart, Meriel, Newbury-Ecob, Ruth, Scott, Richard, Hurst, Jane A, Au, Ping Yee Billie, Hosey, Marie Therese, Khokha, Mustafa, Marciano, Denise K, Lakhani, Saquib A, Liu, Karen J
Publicado 2020