Mitochondrial disease in autism spectrum disorder patients: a cohort analysis JR Weissman, RI Kelley, ML Bauman, BH Cohen, KF Murray, RL Mitchell, ... PloS one 3 (11), e3815, 2008 | 304 | 2008 |
Kabuki syndrome: international consensus diagnostic criteria MP Adam, S Banka, HT Bjornsson, O Bodamer, AE Chudley, J Harris, ... Journal of medical genetics 56 (2), 89-95, 2019 | 191 | 2019 |
Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome HT Bjornsson, JS Benjamin, L Zhang, J Weissman, EE Gerber, YC Chen, ... Science translational medicine 6 (256), 256ra135-256ra135, 2014 | 172 | 2014 |
Missense variants in the histone acetyltransferase complex component gene TRRAP cause autism and syndromic intellectual disability B Cogné, S Ehresmann, E Beauregard-Lacroix, J Rousseau, T Besnard, ... The American Journal of Human Genetics 104 (3), 530-541, 2019 | 44 | 2019 |
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome SE Sheppard, IM Campbell, MH Harr, N Gold, D Li, HT Bjornsson, ... American Journal of Medical Genetics Part A 185 (6), 1649-1665, 2021 | 41 | 2021 |
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder GM Mirzaa, JX Chong, A Piton, B Popp, K Foss, H Guo, R Harripaul, K Xia, ... Genetics in Medicine 22 (3), 538-546, 2020 | 32 | 2020 |
Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction J Weissman, S Naidu, HT Bjornsson Seminars in neurology 34 (03), 249-257, 2014 | 30 | 2014 |
Molecularly confirmed Kabuki (Niikawa‐Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities J Harris, EM Mahone, HT Bjornsson Journal of Intellectual Disability Research 63 (6), 489-497, 2019 | 15 | 2019 |
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome S Choufani, V McNiven, C Cytrynbaum, M Jangjoo, MP Adam, ... The American Journal of Human Genetics 109 (10), 1867-1884, 2022 | 14 | 2022 |
Genome‐wide DNA methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 1 C Montano, JF Britton, JR Harris, J Kerkhof, BT Barnes, JA Lee, ... American Journal of Medical Genetics Part A 188 (7), 2217-2225, 2022 | 13 | 2022 |
Sleep, behavior, and adaptive function in KAT6A syndrome C Smith, J Harris Brain Sciences 11 (8), 966, 2021 | 12 | 2021 |
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here? JR Harris, CW Gao, JF Britton, CD Applegate, HT Bjornsson, JA Fahrner Human genetics, 1-18, 2023 | 10 | 2023 |
Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing R Ng, J Harris, JA Fahrner, HT Bjornsson Journal of the International Neuropsychological Society 29 (5), 512-518, 2023 | 8 | 2023 |
Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature AJ Kalinousky, T Rapp, H Hijazi, J Johnson, HT Bjornsson, JR Harris Frontiers in Genetics 13, 1007046, 2022 | 7 | 2022 |
Disrupted epigenetics in the Sotos syndrome neurobehavioral phenotype JR Harris, JA Fahrner Current opinion in psychiatry 32 (2), 55-59, 2019 | 7 | 2019 |
Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery R Ng, A Kalinousky, J Harris Journal of Neurodevelopmental Disorders 15 (1), 16, 2023 | 6 | 2023 |
Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes TW Frazier, RM Busch, P Klaas, K Lachlan, S Jeste, A Kolevzon, E Loth, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2023 | 5 | 2023 |
Anxiety in Wiedemann–Steiner syndrome R Ng, HT Bjornsson, JA Fahrner, J Harris American Journal of Medical Genetics Part A 191 (2), 437-444, 2023 | 5 | 2023 |
Sleep disturbance is a common feature of Kabuki syndrome T Rapp, AJ Kalinousky, J Johnson, H Bjornsson, J Harris American Journal of Medical Genetics Part A 188 (10), 3041-3048, 2022 | 4 | 2022 |
Unique profile of academic learning difficulties in Wiedemann–Steiner syndrome R Ng, HT Bjornsson, JA Fahrner, J Harris Journal of Intellectual Disability Research 67 (2), 101-111, 2023 | 3 | 2023 |