Anna Kolesnik

Anna Kolesnik

University College London - London / United Kingdom
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 5924379
person_outline Anna Kolesnik's MOST POPULAR ARTICLES
1-) Assessing the landscape of STXBP1-related disorders in 534 individualsJ Xian, S Parthasarathy, SM Ruggiero, G Balagura, E Fitch, K Helbig, ...Brain 145 (5), 1668-1683, 2022672022
2-) Increased cortical reactivity to repeated tones at 8 months in infants with later ASDA Kolesnik, J Begum Ali, T Gliga, J Guiraud, T Charman, MH Johnson, ...Translational Psychiatry 9 (1), 46, 2019672019
3-) Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variationEJ Radford, HK Tan, MHL Andersson, JD Stephenson, EJ Gardner, ...medRxiv, 2022.06. 10.22276179, 2022242022
4-) Early development of infants with neurofibromatosis type 1: a case seriesAM Kolesnik, EJH Jones, S Garg, J Green, T Charman, MH JohnsonMolecular Autism 8 (1), 1-13, 2017272017
5-) Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorderH Melland, F Bumbak, A Kolesnik-Taylor, E Ng-Cordell, A John, ...Genetics in Medicine 24 (4), 880-893, 2022252022