フォロー
Jacqueline Harris
Jacqueline Harris
確認したメール アドレス: kennedykrieger.org
タイトル
引用先
引用先
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
3002008
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
1842019
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
1682014
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
422019
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
402021
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
302020
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
292014
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
152019
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
142022
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
132022
Sleep, behavior, and adaptive function in KAT6A syndrome
C Smith, J Harris
Brain Sciences 11 (8), 966, 2021
112021
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
92023
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
82023
Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature
AJ Kalinousky, T Rapp, H Hijazi, HT Bjornsson, JR Harris
Frontiers in Genetics 13, 1007046, 2022
72022
Disrupted epigenetics in the Sotos syndrome neurobehavioral phenotype
JR Harris, JA Fahrner
Current opinion in psychiatry 32 (2), 55-59, 2019
62019
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
52023
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
42023
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
42022
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
32023
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
32023
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論文 1–20