The genetic contribution of the X chromosome in age-related hearing loss

por Naderi, Elnaz, Cornejo-Sanchez, Diana M., Li, Guangyou, Schrauwen, Isabelle, Wang, Gao T., Dewan, Andrew T., Leal, Suzanne M.
Publicado 2023

Variants in JAZF1 are associated with asthma, type 2 diabetes, and height in the United Kingdom biobank population

por DeWan, Andrew T., Cahill, Megan E., Cornejo-Sanchez, Diana M., Li, Yining, Dong, Zihan, Fabiha, Tabassum, Sun, Hao, Wang, Gao, Leal, Suzanne M.
Publicado 2023

Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies

por Xie, Zhiying, Sun, Chengyue, Zhang, Siwen, Liu, Yilin, Yu, Meng, Zheng, Yiming, Meng, Lingchao, Acharya, Anushree, Cornejo‐Sanchez, Diana M, Wang, Gao, Zhang, Wei, Schrauwen, Isabelle, Leal, Suzanne M., Wang, Zhaoxia, Yuan, Yun
Publicado 2020

SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families

por Cornejo-Sanchez, Diana M., Acharya, Anushree, Bharadwaj, Thashi, Marin-Gomez, Lizeth, Pereira-Gomez, Pilar, Nouel-Saied, Liz M., Nickerson, Deborah A., Bamshad, Michael J., Mefford, Heather C., Schrauwen, Isabelle, Carrizosa-Moog, Jaime, Cornejo-Ochoa, William, Pineda-Trujillo, Nicolas, Leal, Suzanne M.
Publicado 2022

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

por Wonkam, Ambroise, Adadey, Samuel Mawuli, Schrauwen, Isabelle, Aboagye, Elvis Twumasi, Wonkam-Tingang, Edmond, Esoh, Kevin, Popel, Kalinka, Manyisa, Noluthando, Jonas, Mario, deKock, Carmen, Nembaware, Victoria, Cornejo Sanchez, Diana M., Bharadwaj, Thashi, Nasir, Abdul, Everard, Jenna L., Kadlubowska, Magda K., Nouel-Saied, Liz M., Acharya, Anushree, Quaye, Osbourne, Amedofu, Geoffrey K., Awandare, Gordon A., Leal, Suzanne M.
Publicado 2022

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

por Järvelä, Irma, Määttä, Tuomo, Acharya, Anushree, Leppälä, Juha, Jhangiani, Shalini N., Arvio, Maria, Siren, Auli, Kankuri-Tammilehto, Minna, Kokkonen, Hannaleena, Palomäki, Maarit, Varilo, Teppo, Fang, Mary, Hadley, Trevor D., Jolly, Angad, Linnankivi, Tarja, Paetau, Ritva, Saarela, Anni, Kälviäinen, Reetta, Olme, Jan, Nouel-Saied, Liz M., Cornejo-Sanchez, Diana M., Llaci, Lorida, Lupski, James R., Posey, Jennifer E., Leal, Suzanne M., Schrauwen, Isabelle
Publicado 2021