| Statistical analysis of observational studies in disability research DA Shepherd, DJ Amor, M Moreno‐Betancur Developmental Medicine & Child Neurology, 2024 | | 2024 |
| Hypotonic cerebral palsy MS Cooper, GC Antolovich, MC Fahey, DJ Amor Child: Care, Health and Development 50 (3), e13258, 2024 | | 2024 |
| Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort KR Dias, R Shrestha, D Schofield, CA Evans, E O’Heir, Y Zhu, F Zhang, ... Genetics in Medicine 26 (5), 101076, 2024 | 2 | 2024 |
| Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: A retrospective population-based cohort study C Pynaker, J McCoy, J Halliday, S Lewis, DJ Amor, SP Walker, L Hui | | 2024 |
| Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol S Lunke, SE Bouffler, L Downie, J Caruana, DJ Amor, A Archibald, ... BMJ open 14 (4), e081426, 2024 | 1 | 2024 |
| De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay T Ha, A Morgan, MN Bartos, K Beatty, B Cogné, D Braun, CB Gerber, ... American Journal of Medical Genetics Part A, e63559, 2024 | | 2024 |
| Speech and language in DDX3X‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention EJ Forbes, LD Morison, F Lelik, T Howell, S Debono, H Goel, P Burger, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, e32971, 2024 | | 2024 |
| Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations D Kooshavar, DJ Amor, K Boggs, N Baker, C Barnett, MG de Silva, ... Brain Communications, fcae056, 2024 | | 2024 |
| The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment S Donoghue, J Wright, AK Voss, PJ Lockhart, DJ Amor Molecular Genetics and Metabolism, 108360, 2024 | | 2024 |
| Genetic architecture of childhood speech disorder: a review AT Morgan, DJ Amor, MD St John, IE Scheffer, MS Hildebrand Molecular Psychiatry, 1-12, 2024 | 4 | 2024 |
| Beyond'speech delay': Expanding the phenotype of BRPF1-related disorder LD Morison, O Van Reyk, E Baker, L Ruaud, N Couque, A Verloes, ... European Journal of Medical Genetics, 104923, 2024 | | 2024 |
| Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt JL Shepherdson, K Hutchison, DW Don, G McGillivray, TI Choi, CA Allan, ... The American Journal of Human Genetics, 2024 | | 2024 |
| The value of genomic testing in severe childhood speech disorders Y Meng, S Best, DJ Amor, R Braden, AT Morgan, I Goranitis European Journal of Human Genetics, 1-8, 2024 | 1 | 2024 |
| Causation in cerebral palsy: Parental beliefs and associated emotions R Smyth, SM Reid, K Paton, AT Guzys, CE Wakefield, DJ Amor Developmental Medicine & Child Neurology 66 (2), 258-266, 2024 | 3 | 2024 |
| Fostering Hope and Acknowledging Uncertainty: Meeting Parents’ Needs and Preferences When Communicating Prognosis in Genetic Neurodevelopmental Conditions E Turbitt, E Callinan, P Shakes, A McEwen, DJ Amor Current Developmental Disorders Reports, 1-11, 2024 | | 2024 |
| Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals LD Morison, MGP Kennis, D Rots, A Bouman, J Kummeling, E Palmer, ... Journal of Medical Genetics, 2024 | | 2024 |
| Gene selection for genomic newborn screening: moving towards consensus? L Downie, SE Bouffler, DJ Amor, J Christodoulou, A Yeung, AE Horton, ... Genetics in Medicine, 101077, 2024 | 6 | 2024 |
| Speech and language abilities in individuals with Kleefstra Syndrome L Morison, M Kennis, E Palmer, A Vogel, F Liegeois, A Brignell, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 453-454, 2024 | | 2024 |
| Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study E Turbitt, M Bourne, A McEwen, DJ Amor Developmental Medicine & Child Neurology, 2023 | 2 | 2023 |
| Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants C Smolen, M Jensen, L Dyer, L Pizzo, A Tyryshkina, D Banerjee, L Rohan, ... The American Journal of Human Genetics 110 (12), 2015-2028, 2023 | 2 | 2023 |
