Publications by authors named "Joseph Buxbaum"

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MIRAGE: A Bayesian statistical method for gene-level rare-variant analysis incorporating functional annotations.
Shengtong Han, Xiaotong Sun, Laura Sloofman, F Kyle Satterstrom, Xizhi Xu, Joseph Buxbaum

Am J Hum Genet· January 2026

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POU3F2 regulates canonical Wnt signalling via SOX13 and ADNP to expand the neural progenitor population.
Courtney R Benoit, Lilia B Sattler, Aimee J Aylward, Olivia Pembridge, Bella Kim, Joseph D Buxbaum

Brain· December 2025

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Rare coding variation in OCD implicates shared genes with other psychiatric disorders.
Seulgi Jung, Matthew W Halvorson, Nancy Pedersen, Marina Natividad Avila, Maria Niarchou, Joseph D Buxbaum

medRxiv· December 2025

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Joseph Buxbaum

Am J Hum Genet· November 2025

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Liability threshold model-based disease risk prediction based on electronic health record phenotypes.
Cue Hyunkyu Lee, Atlas Khan, Chen Wang, Chunhua Weng, Joseph D Buxbaum

Nat Genet· November 2025

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Maternal body mass index in early pregnancy and autism in offspring: a population-based cohort study in Sweden and Denmark.
Matilda Morin, Weiyao Yin, Heidi MacLean, Bernie Devlin, Abraham Reichenberg, Joseph D Buxbaum

BMC Med· November 2025

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Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Joseph D Buxbaum

Am J Med Genet B Neuropsychiatr Genet· October 2025

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Longitudinal Trajectory of Adaptive Skills in Phelan-McDermid Syndrome.
Siddharth Srivastava, Kristina Johnson, Cristan Farmer, Tess Levy, Audrey Thurm, Joseph D Buxbaum

Am J Intellect Dev Disabil· September 2025

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Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints.
Latha Valluripalli Soorya, Camille W Brune, Cristan A Farmer, Edith V Ocampo, Natalie I Berger, Joseph D Buxbaum

Am J Intellect Dev Disabil· September 2025

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Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome.
Cristan Farmer, Ivy Giserman-Kiss, Ellora Mohanty, Latha Valluripalli Soorya, Mustafa Sahin, Joseph D Buxbaum

Am J Intellect Dev Disabil· September 2025

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Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs.
Tess Levy, Cristan Farmer, Siddharth Srivastava, Kristina Johnson, Jadyn Trayvick, Joseph D Buxbaum

Am J Intellect Dev Disabil· September 2025

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Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change.
Cristan Farmer, Audrey Thurm, Tanvi Das, E Martina Bebin, Jonathan A Bernstein, Joseph D Buxbaum

Am J Intellect Dev Disabil· September 2025

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Significant Role for Maternal Genetic Nurture in the Risk Architecture of Attention Deficit Hyperactivity Disorder.
Behrang Mahjani, Adrianna P Kępińska, Shelby Smout, Lily Cohen, Madison Caballero, Joseph D Buxbaum

Am J Psychiatry· August 2025

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Persistent Tic Disorders Are Associated With 17q12 Duplications.
Matthew Halvorsen, Sheng Wang, Tyne Miller-Fleming, Dongmei Yu, Apostolia Topaloudi, Joseph Buxbaum

Res Sq· August 2025

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Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease.
Farid Rajabli, Penelope Benchek, Giuseppe Tosto, Nicholas Kushch, Jin Sha, Joseph D Buxbaum

Genome Biol· July 2025

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A framework to infer exonic variants when parental genotypes are missing enhances association studies of autism.
Haeun Moon, Laura Sloofman, Marina Natividad Avila, Lambertus Klei, Bernie Devlin, Joseph D Buxbaum

bioRxiv· July 2025

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Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects.
Worrawat Engchuan, Omar Shanta, Kuldeep Kumar, Jeffrey R MacDonald, Bhooma Thiruvahindrapuram, Joseph Buxbaum

medRxiv· July 2025

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A cross-disorder analysis of CNVs finds novel loci and dose-dependent relationships of genes to psychiatric traits.
Omar Shanta, Marieke Klein, Molly Sacks, Jeffrey R MacDonald, Adam Maihofer, Joseph Buxbaum

medRxiv· July 2025

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Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder.
Nora I Strom, Zachary F Gerring, Marco Galimberti, Dongmei Yu, Matthew W Halvorsen, Joseph D Buxbaum

Nat Genet· June 2025

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Psychiatric genetics in the diverse landscape of Latin American populations.
Estela M Bruxel, Diego L Rovaris, Sintia I Belangero, Gabriela Chavarría-Soley, Alfredo B Cuellar-Barboza, Joseph D Buxbaum

Nat Genet· May 2025

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Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns.
Hailey Silver, Rori Greenberg, Paige M Siper, Jessica Zweifach, Renee Soufer, Joseph D Buxbaum

J Neurodev Disord· April 2025

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Familial confounding in the associations between maternal health and autism.
Vahe Khachadourian, Elias Speleman Arildskov, Jakob Grove, Paul F O'Reilly, Joseph D Buxbaum

Nat Med· March 2025

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Adolescents and adults with FOXP1 syndrome show high rates of anxiety and externalizing behaviors but not psychiatric decompensation or skill loss.
Tess Levy, Hailey Silver, Renee Soufer, Audrey Rouhandeh, Alexander Kolevzon, Joseph D Buxbaum

Front Psychiatry· February 2025

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Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.
Marina Natividad Avila, Seulgi Jung, F Kyle Satterstrom, Jack M Fu, Tess Levy, Joseph D Buxbaum

medRxiv· January 2025

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Expanding GABAergic Neuronal Diversity in iPSC-Derived Disease Models.
Ruiqi Hu, Linda L Boshans, Bohan Zhu, Peiwen Cai, Yiran Tao, Joseph D Buxbaum

bioRxiv· December 2024

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