Diana M Cornejo-Sanchez

Diana M Cornejo-Sanchez

Columbia University New York - New York / United States
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 5620921
person_outline Diana M Cornejo-Sanchez's MOST POPULAR ARTICLES
1-) Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of FinlandI Järvelä, T Määttä, A Acharya, J Leppälä, SN Jhangiani, M Arvio, A Siren, ...Human Genetics 140, 1011-1029, 2021312021
2-) Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic eraZ Xie, C Sun, Y Liu, M Yu, Y Zheng, L Meng, G Wang, ...Journal of Medical Genetics 58 (11), 743-751, 2021252021
3-) Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathiesZ Xie, C Sun, S Zhang, Y Liu, M Yu, Y Zheng, L Meng, A Acharya, ...Annals of Clinical and Translational Neurology 7 (10), 2041-2046, 2020252020
4-) Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian RomaI Schrauwen, BI Melegh, I Chakchouk, A Acharya, A Nasir, A Poston, ...European Journal of Human Genetics 27 (6), 869-878, 2019152019
5-) Exome sequencing of families from Ghana reveals known and candidate hearing impairment genesA Wonkam, SM Adadey, I Schrauwen, ET Aboagye, E Wonkam-Tingang, ...Communications biology 5 (1), 369, 2022142022