Articles with public access mandates - Joseph D BuxbaumLearn more
Available somewhere: 332
Review
Comorbidities in autism spectrum disorder and their etiologies
V Khachadourian, B Mahjani, S Sandin, A Kolevzon, JD Buxbaum, ...
Translational Psychiatry 13 (1), 71, 2023
Mandates: US National Institutes of Health
Review
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome
P Jain, T Miller-Fleming, A Topaloudi, D Yu, P Drineas, M Georgitsi, ...
Translational psychiatry 13 (1), 69, 2023
Mandates: US National Science Foundation, US National Institutes of Health, German …
Review
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
L Pavinato, A Delle Vedove, D Carli, M Ferrero, S Carestiato, JL Howe, ...
Brain 146 (2), 534-548, 2023
Mandates: US National Institutes of Health, German Research Foundation, European …
Review
Large 22q13. 3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome
MS Breen, X Fan, T Levy, RM Pollak, B Collins, A Osman, AS Tocheva, ...
Human Genetics and Genomics Advances 4 (1), 2023
Mandates: US National Institutes of Health
Review
Somatic comorbidities of mental disorders in pregnancy
V Khachadourian, A Kodesh, SZ Levine, E Lin, JD Buxbaum, V Bergink, ...
European Psychiatry 66 (1), e15, 2023
Mandates: US National Institutes of Health
Review
Maternal health around pregnancy and autism risk: a diagnosis-wide, population-based study
A Kodesh, SZ Levine, V Khachadourian, R Rahman, A Schlessinger, ...
Psychological medicine 52 (16), 4076-4084, 2022
Mandates: US National Institutes of Health
Review
Skewed X-chromosome Inactivation in Unsolved Neurodevelopmental Disease Cases Can Guide Re-evaluation for X-linked Genes
A Brusco, C Giovenino, S Trajkova, L Pavinato, S Cardaropoli, V Pullano, ...
Mandates: US National Institutes of Health, Government of Italy
Review
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
G Butler-Laporte, G Povysil, JA Kosmicki, ET Cirulli, T Drivas, S Furini, ...
PLoS genetics 18 (11), e1010367, 2022
Mandates: Swiss National Science Foundation, US National Institutes of Health, US …
Review
Spatiotemporal and genetic regulation of A-to-I editing throughout human brain development
WH Cuddleston, X Fan, L Sloofman, L Liang, E Mossotto, K Moore, ...
Cell reports 41 (5), 2022
Mandates: US National Institutes of Health
Review
An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome
A Kolevzon, T Levy, S Barkley, S Bedrosian-Sermone, M Davis, ...
Human Genetics and Genomics Advances 3 (4), 2022
Mandates: US National Institutes of Health
Review
Proximity analysis of native proteomes reveals Interactomes predictive of phenotypic modifiers of autism and related neurodevelopmental conditions
Y Gao, M Trn, D Shonai, J Zhao, EJ Soderblom, SA Garcia-Moreno, ...
BioRxiv, 2022.10. 06.511211, 2022
Mandates: US National Institutes of Health
Review
KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design
Y Yang, C Wang, L Liu, J Buxbaum, Z He, I Ionita-Laza
The American Journal of Human Genetics 109 (10), 1761-1776, 2022
Mandates: US National Institutes of Health
Review
Phenotypic impact of rare potentially damaging copy number variation in obsessive-compulsive disorder and chronic tic disorders
B Mahjani, R Birnbaum, A Buxbaum Grice, C Cappi, S Jung, MN Avila, ...
Genes 13 (10), 1796, 2022
Mandates: US National Institutes of Health
Review
Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups
M Mattheisen, J Grove, TD Als, J Martin, G Voloudakis, S Meier, ...
Nature Genetics 54 (10), 1470-1478, 2022
Mandates: US National Institutes of Health, Wellcome Trust, European Commission …
Review
Psychometric properties of the Swedish translation of the Obsessive–Compulsive Inventory-Revised and the population characteristics of the symptom dimensions of OCD
B Mahjani, C Gustavsson Mahjani, A Reichenberg, S Sandin, ...
Social psychiatry and psychiatric epidemiology 57 (10), 2147-2155, 2022
Mandates: US National Institutes of Health
Review
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins, S Dong, B Wamsley, ...
Nature genetics 54 (9), 1320-1331, 2022
Mandates: US National Science Foundation, US National Institutes of Health, Autism …
Review
Lipid A variants activate human TLR4 and the noncanonical inflammasome differently and require the core oligosaccharide for inflammasome activation
J Alexander-Floyd, AR Bass, EM Harberts, D Grubaugh, JD Buxbaum, ...
Infection and Immunity 90 (8), e00208-22, 2022
Mandates: US National Science Foundation, US National Institutes of Health
Review
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
AJ Brea-Fernández, M Álvarez-Barona, J Amigo, M Tubío-Fungueiriño, ...
European Journal of Human Genetics 30 (8), 938-945, 2022
Mandates: Government of Spain
Review
CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms
T Levy, B Lerman, D Halpern, Y Frank, C Layton, J Zweifach, PM Siper, ...
Human Molecular Genetics 31 (15), 2582-2594, 2022
Mandates: US National Institutes of Health
Review
TrackUSF, a novel tool for automated ultrasonic vocalization analysis, reveals modified calls in a rat model of autism
S Netser, G Nahardiya, G Weiss-Dicker, R Dadush, Y Goussha, SR John, ...
BMC biology 20 (1), 159, 2022
Mandates: US National Institutes of Health, Human Frontier Science Program
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