| The behavioral phenotype of FMR1 mutations L Boyle, WE Kaufmann American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2010 | 150 | 2010 |
| Autism and anxiety in males with fragile X syndrome: An exploratory analysis of neurobehavioral profiles from a parent survey VB Talisa, L Boyle, D Crafa, WE Kaufmann American Journal of Medical Genetics Part A 164 (5), 1198-1203, 2014 | 70 | 2014 |
| Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder L Boyle, L Rao, S Kaur, X Fan, C Mebane, L Hamm, A Thornton, ... Human Genetics and Genomics Advances 2 (2), 100026, 2021 | 62 | 2021 |
| Mutations in TKT are the cause of a syndrome including short stature, developmental delay, and congenital heart defects L Boyle, MMC Wamelink, GS Salomons, B Roos, A Pop, A Dauber, V Hwa, ... The American Journal of Human Genetics 98 (6), 1235-1242, 2016 | 50 | 2016 |
| Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A) S Kaur, NJ Van Bergen, KJ Verhey, CJ Nowell, B Budaitis, Y Yue, ... Human mutation 41 (10), 1761-1774, 2020 | 26 | 2020 |
| Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder JM Bain, O Thornburg, C Pan, D Rome-Martin, L Boyle, X Fan, ... Neurology Genetics 7 (1), 2021 | 23 | 2021 |
| Cover, Volume 41, Issue 10 S Kaur, NJ Van Bergen, KJ Verhey, CJ Nowell, B Budaitis, Y Yue, ... Human Mutation 41 (10), i-i, 2020 | | 2020 |
