Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease

por Dharmadhikari, Avinash V., Szafranski, Przemyslaw, Kalinichenko, Vladimir V., Stankiewicz, Pawel
Publicado 2015

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease

por Thomas-Wilson, Amanda, Dharmadhikari, Avinash V., Heymann, Jonas J., Jobanputra, Vaidehi, DiMauro, Salvatore, Hirano, Michio, Naini, Ali B., Ganapathi, Mythily
Publicado 2022

Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl

por Dharmadhikari, Avinash V., Pereira, Elaine M., Andrews, Carli C ., Macera, Michael, Harkavy, Nina, Wapner, Ronald, Jobanputra, Vaidehi, Levy, Brynn, Ganapathi, Mythily, Liao, Jun
Publicado 2022

Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression

por Dharmadhikari, Avinash V., Sun, Jenny J., Gogolewski, Krzysztof, Carofino, Brandi L., Ustiyan, Vladimir, Hill, Misty, Majewski, Tadeusz, Szafranski, Przemyslaw, Justice, Monica J., Ray, Russell S., Dickinson, Mary E., Kalinichenko, Vladimir V., Gambin, Anna, Stankiewicz, Paweł
Publicado 2016

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center

por Ganapathi, Mythily, Thomas-Wilson, Amanda, Buchovecky, Christie, Dharmadhikari, Avinash, Barua, Subit, Lee, Winston, Ruan, Merry Z. C., Soucy, Megan, Ragi, Sara, Tanaka, Joy, Clark, Lorraine N., Naini, Ali B., Liao, Jun, Mansukhani, Mahesh, Tsang, Stephen, Jobanputra, Vaidehi
Publicado 2022

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

por Abdelhakim, Aliaa H., Dharmadhikari, Avinash V., Ragi, Sara D., de Carvalho, Jose Ronaldo Lima, Xu, Christine L., Thomas, Amanda L., Buchovecky, Christie M., Mansukhani, Mahesh M., Naini, Ali B., Liao, Jun, Jobanputra, Vaidehi, Maumenee, Irene H., Tsang, Stephen H.
Publicado 2020

Comparative Analyses of Lung Transcriptomes in Patients with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and in Foxf1 Heterozygous Knockout Mice

por Sen, Partha, Dharmadhikari, Avinash V., Majewski, Tadeusz, Mohammad, Mahmoud A., Kalin, Tanya V., Zabielska, Joanna, Ren, Xiaomeng, Bray, Molly, Brown, Hannah M., Welty, Stephen, Thevananther, Sundararajah, Langston, Claire, Szafranski, Przemyslaw, Justice, Monica J., Kalinichenko, Vladimir V., Gambin, Anna, Belmont, John, Stankiewicz, Pawel
Publicado 2014

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

por Dharmadhikari, Avinash V, Gambin, Tomasz, Szafranski, Przemyslaw, Cao, Wenjian, Probst, Frank J, Jin, Weihong, Fang, Ping, Gogolewski, Krzysztof, Gambin, Anna, George-Abraham, Jaya K, Golla, Sailaja, Boidein, Francoise, Duban-Bedu, Benedicte, Delobel, Bruno, Andrieux, Joris, Becker, Kerstin, Holinski-Feder, Elke, Cheung, Sau Wai, Stankiewicz, Pawel
Publicado 2014

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

por Normand, Elizabeth A., Braxton, Alicia, Nassef, Salma, Ward, Patricia A., Vetrini, Francesco, He, Weimin, Patel, Vipulkumar, Qu, Chunjing, Westerfield, Lauren E., Stover, Samantha, Dharmadhikari, Avinash V., Muzny, Donna M., Gibbs, Richard A., Dai, Hongzheng, Meng, Linyan, Wang, Xia, Xiao, Rui, Liu, Pengfei, Bi, Weimin, Xia, Fan, Walkiewicz, Magdalena, Van den Veyver, Ignatia B., Eng, Christine M., Yang, Yaping
Publicado 2018

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

por Szafranski, Przemyslaw, Dharmadhikari, Avinash V., Brosens, Erwin, Gurha, Priyatansh, Kołodziejska, Katarzyna E., Zhishuo, Ou, Dittwald, Piotr, Majewski, Tadeusz, Mohan, K. Naga, Chen, Bo, Person, Richard E., Tibboel, Dick, de Klein, Annelies, Pinner, Jason, Chopra, Maya, Malcolm, Girvan, Peters, Gregory, Arbuckle, Susan, Guiang, Sixto F., Hustead, Virginia A., Jessurun, Jose, Hirsch, Russel, Witte, David P., Maystadt, Isabelle, Sebire, Neil, Fisher, Richard, Langston, Claire, Sen, Partha, Stankiewicz, Paweł
Publicado 2013

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

por Dharmadhikari, Avinash V., Ghosh, Rajarshi, Yuan, Bo, Liu, Pengfei, Dai, Hongzheng, Al Masri, Sami, Scull, Jennifer, Posey, Jennifer E., Jiang, Allen H., He, Weimin, Vetrini, Francesco, Braxton, Alicia A., Ward, Patricia, Chiang, Theodore, Qu, Chunjing, Gu, Shen, Shaw, Chad A., Smith, Janice L., Lalani, Seema, Stankiewicz, Pawel, Cheung, Sau-Wai, Bacino, Carlos A., Patel, Ankita, Breman, Amy M., Wang, Xia, Meng, Linyan, Xiao, Rui, Xia, Fan, Muzny, Donna, Gibbs, Richard A., Beaudet, Arthur L., Eng, Christine M., Lupski, James R., Yang, Yaping, Bi, Weimin
Publicado 2019