Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism.

Autor: Kim SW; Department of Integrated Biomedical and Life Science, Korea University, Seoul, Republic of Korea.; L-HOPE Program for Community-Based Total Learning Health Systems, Korea University, Seoul, Republic of Korea., Lee H; Department of Integrated Biomedical and Life Science, Korea University, Seoul, Republic of Korea.; L-HOPE Program for Community-Based Total Learning Health Systems, Korea University, Seoul, Republic of Korea., Song DY; Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.; Department of Psychiatry, Seoul National University College of Medicine, Seoul, Republic of Korea., Lee GH; Department of Integrated Biomedical and Life Science, Korea University, Seoul, Republic of Korea.; L-HOPE Program for Community-Based Total Learning Health Systems, Korea University, Seoul, Republic of Korea., Ji J; Department of Integrated Biomedical and Life Science, Korea University, Seoul, Republic of Korea.; L-HOPE Program for Community-Based Total Learning Health Systems, Korea University, Seoul, Republic of Korea., Park JW; Korea Institute of Science and Technology Information, Daejeon, Republic of Korea., Han JH; Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.; Department of Psychiatry, College of Medicine, Soonchunhyang University Cheonan Hospital, Cheonan, Republic of Korea., Lee JW; Department of Psychiatry, Soonchunhyang University College of Medicine, Cheonan, South Korea., Byun HJ; Department of Psychiatry, Seoul Metropolitan Children's Hospital, Seoul, Republic of Korea., Son JH; Department of Psychiatry, Seoul Metropolitan Children's Hospital, Seoul, Republic of Korea., Kim YR; Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.; Department of Psychiatry, Seoul National University College of Medicine, Seoul, Republic of Korea., Lee Y; Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, Republic of Korea., Kim J; Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, Republic of Korea., Jung A; School of Biosystem and Biomedical Science, College of Health Science, Korea University, Seoul, Republic of Korea., Lee J; Korea Institute of Science and Technology Information, Daejeon, Republic of Korea., Kim E; School of Neuroscience, Korea University College of Medicine, Seoul, Republic of Korea.; BK21 Graduate Program, Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Republic of Korea., Kim SH; Department of Psychology, Korea University, Seoul, Republic of Korea., Lee JH; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon, Republic of Korea., Satterstrom FK; Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA., Girirajan S; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA, USA., Børglum AD; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.; Center for Genomics and Personalized Medicine, Aarhus, Denmark.; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Grove J; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.; Center for Genomics and Personalized Medicine, Aarhus, Denmark.; Department of Biomedicine, Aarhus University, Aarhus, Denmark.; Bioinformatics Research Centre, BiRC, Aarhus University, Aarhus, Denmark., Kim E; Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon, Republic of Korea.; Synaptic Brain Dysfunctions, Institute for Basic Science, Daejeon, Republic of Korea., Werling DM; Laboratory of Genetics, University of Wisconsin-Madison, Madison, WI, USA., Yoo HJ; Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.; Department of Psychiatry, Seoul National University College of Medicine, Seoul, Republic of Korea., An JY; Department of Integrated Biomedical and Life Science, Korea University, Seoul, Republic of Korea. joonan30@korea.ac.kr.; L-HOPE Program for Community-Based Total Learning Health Systems, Korea University, Seoul, Republic of Korea. joonan30@korea.ac.kr.; School of Biosystem and Biomedical Science, College of Health Science, Korea University, Seoul, Republic of Korea. joonan30@korea.ac.kr.

Publikováno v: Genome medicine [Genome Med] 2024 Sep 27; Vol. 16 (1), pp. 114. Date of Electronic Publication: 2024 Sep 27.

Sex-Differential Gene Expression in Developing Human Cortex and Its Intersection With Autism Risk Pathways.

Autor: Kissel LT; Neuroscience Training Program, University of Wisconsin-Madison, Madison, Wisconsin., Pochareddy S; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, Connecticut., An JY; Department of Integrated Biomedical and Life Science, Korea University, Seoul, Republic of Korea.; Transdisciplinary Major in Learning Health Systems, Department of Healthcare Sciences, Graduate School, Korea University, Seoul, Republic of Korea.; BK21FOUR R&E Center for Learning Health Systems, Korea University, Seoul, Republic of Korea., Sestan N; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, Connecticut., Sanders SJ; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, United Kingdom.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, California., Wang X; Seaver Autism Center for Research and Treatment, New York, New York.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York., Werling DM; Laboratory of Genetics, University of Wisconsin-Madison, Madison, Wisconsin.

Publikováno v: Biological psychiatry global open science [Biol Psychiatry Glob Open Sci] 2024 Apr 26; Vol. 4 (4), pp. 100321. Date of Electronic Publication: 2024 Apr 26 (Print Publication: 2024).

Species-specific FMRP regulation of RACK1 is critical for prenatal cortical development.

Autor: Shen M; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA., Sirois CL; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA., Guo Y; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA., Li M; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA., Dong Q; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA., Méndez-Albelo NM; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA; Molecular Cellular Pharmacology Training Program, University of Wisconsin-Madison, Madison, WI 53705, USA., Gao Y; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA., Khullar S; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Departments of Biostatistics and Medical Informatics, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA., Kissel L; Neuroscience Training Program, University of Wisconsin-Madison, Madison, WI 53705, USA., Sandoval SO; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA; Neuroscience Training Program, University of Wisconsin-Madison, Madison, WI 53705, USA., Wolkoff NE; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA., Huang SX; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA., Xu Z; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA; Graduate Program in Cell and Molecular Biology, University of Wisconsin-Madison, Madison, WI 53705, USA., Bryan JE; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Departments of Biostatistics and Medical Informatics, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA., Contractor AM; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA., Korabelnikov T; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA., Glass IA; Birth Defects Research Laboratory, University of Washington, Seattle, WA 98195, USA., Doherty D; Birth Defects Research Laboratory, University of Washington, Seattle, WA 98195, USA., Levine JE; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA; Wisconsin National Primate Research Center, University of Wisconsin-Madison, Madison, WI 53715, USA., Sousa AMM; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA., Chang Q; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neurology, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA; Laboratory of Genetics, University of Wisconsin-Madison, Madison, WI 53706, USA., Bhattacharyya A; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Cell and Regenerative Biology, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA., Wang D; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Departments of Biostatistics and Medical Informatics, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA., Werling DM; Laboratory of Genetics, University of Wisconsin-Madison, Madison, WI 53706, USA., Zhao X; Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, USA; Department of Neuroscience, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53705, USA. Electronic address: xinyu.zhao@wisc.edu.

Publikováno v: Neuron [Neuron] 2023 Dec 20; Vol. 111 (24), pp. 3988-4005.e11. Date of Electronic Publication: 2023 Oct 10.

SUPERGNOVA: local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits.

Autor: Zhang Y; Department of Biostatistics, Yale School of Public Health, 60 College Street, New Haven, CT, 06520, USA., Lu Q; Department of Biostatistics and Medical Informatics, University of Wisconsin-Madison, Madison, WI, 53706, USA.; Department of Statistics, University of Wisconsin-Madison, Madison, WI, 53706, USA.; Center for Demography of Health and Aging, University of Wisconsin-Madison, Madison, WI, 53706, USA., Ye Y; Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, 06510, USA., Huang K; Department of Statistics, University of Wisconsin-Madison, Madison, WI, 53706, USA., Liu W; Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, 06510, USA., Wu Y; Department of Biostatistics and Medical Informatics, University of Wisconsin-Madison, Madison, WI, 53706, USA., Zhong X; Department of Biostatistics and Medical Informatics, University of Wisconsin-Madison, Madison, WI, 53706, USA., Li B; Department of Biostatistics, Yale School of Public Health, 60 College Street, New Haven, CT, 06520, USA., Yu Z; Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, 06510, USA., Travers BG; Occupational Therapy Program in the Department of Kinesiology, University of Wisconsin-Madison, Madison, WI, 53706, USA.; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA., Werling DM; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Laboratory of Genetics, University of Wisconsin-Madison, Madison, WI, 53706, USA., Li JJ; Waisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.; Department of Psychology, University of Wisconsin-Madison, Madison, WI, 53706, USA., Zhao H; Department of Biostatistics, Yale School of Public Health, 60 College Street, New Haven, CT, 06520, USA. hongyu.zhao@yale.edu.; Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, 06510, USA. hongyu.zhao@yale.edu.; Department of Genetics, Yale School of Medicine, New Haven, CT, 06510, USA. hongyu.zhao@yale.edu.

Publikováno v: Genome biology [Genome Biol] 2021 Sep 07; Vol. 22 (1), pp. 262. Date of Electronic Publication: 2021 Sep 07.

Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex.

Autor: Werling DM; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; Laboratory of Genetics, University of Wisconsin-Madison, Madison, WI 53706, USA., Pochareddy S; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA., Choi J; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA., An JY; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Integrated Biomedical and Life Science, Korea University, Seoul 02841, Republic of Korea; School of Biosystem and Biomedical Science, College of Health Science, Korea University, Seoul 02841, Republic of Korea., Sheppard B; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA., Peng M; Department of Statistics and Data Science, Carnegie Mellon University, Pittsburgh, PA 15213, USA., Li Z; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA; Department of Neurosciences, University of California, San Diego, San Diego, CA 92093, USA., Dastmalchi C; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA., Santpere G; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA; Neurogenomics Group, Research Programme on Biomedical Informatics, Hospital del Mar Medical Research Institute, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Catalonia, Spain., Sousa AMM; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA., Tebbenkamp ATN; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA., Kaur N; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA., Gulden FO; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA., Breen MS; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Liang L; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA., Gilson MC; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA., Zhao X; Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, USA., Dong S; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA., Klei L; Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA., Cicek AE; Department of Computer Engineering, Bilkent University, Ankara 06800, Turkey; Computational Biology Department, Carnegie Mellon University, Pittsburgh, PA 15213, USA., Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Adle-Biassette H; Department of Pathology, Lariboisière Hospital, APHP, Biobank BB-0033-00064, and Université de Paris, 75006 Paris, France., Thomas JL; Department of Neurology, Yale University School of Medicine, New Haven, CT 06511, USA; UMRS1127, Sorbonne Université, Institut du Cerveau et de la Moelle Épinière, 75013 Paris, France., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA., O'Day DR; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA., Glass IA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA., Zaitlen NA; Department of Medicine, University of California, San Francisco, San Francisco, CA 94158, USA., Talkowski ME; Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, USA., Roeder K; Department of Statistics and Data Science, Carnegie Mellon University, Pittsburgh, PA 15213, USA; Computational Biology Department, Carnegie Mellon University, Pittsburgh, PA 15213, USA., State MW; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94158, USA., Devlin B; Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA., Sanders SJ; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address: stephan.sanders@ucsf.edu., Sestan N; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA; Department of Psychiatry, Yale University School of Medicine, New Haven, CT 06520, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA; Department of Comparative Medicine, Program in Integrative Cell Signaling and Neurobiology of Metabolism, Yale School of Medicine, New Haven, CT 06510, USA; Program in Cellular Neuroscience, Neurodegeneration, and Repair and Yale Child Study Center, Yale School of Medicine, New Haven, CT 06510, USA. Electronic address: nenad.sestan@yale.edu.

Publikováno v: Cell reports [Cell Rep] 2020 Apr 07; Vol. 31 (1), pp. 107489.