Massively parallel characterization of regulatory elements in the developing human cortex.

Autor: Deng C; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA 94158, USA.; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94158, USA., Whalen S; Gladstone Institutes, San Francisco, CA 94158, USA., Steyert M; Department of Anatomy, University of California, San Francisco, San Francisco, CA 94143, USA.; Department of Psychiatry, University of California, San Francisco, San Francisco, CA 94143, USA.; Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA 94143, USA.; Chan Zuckerberg Biohub, San Francisco, San Francisco, CA 94158, USA.; Kavli Institute for Fundamental Neuroscience, University of California, San Francisco, CA 94143, USA.; Weill Institute for Neurosciences, University of California, San Francisco, CA 94158, USA., Ziffra R; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA 94158, USA.; Department of Anatomy, University of California, San Francisco, San Francisco, CA 94143, USA.; Department of Psychiatry, University of California, San Francisco, San Francisco, CA 94143, USA., Przytycki PF; Gladstone Institutes, San Francisco, CA 94158, USA., Inoue F; Institute for the Advanced Study of Human Biology (WPI-ASHBi), Kyoto University, Kyoto 606-8501, Japan., Pereira DA; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA 94158, USA.; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94158, USA.; Graduate Program of Genetics, Institute of Biological Sciences, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais 31270-901, Brazil., Capauto D; Child Study Center, Yale University, New Haven, CT 06520, USA., Norton S; Child Study Center, Yale University, New Haven, CT 06520, USA., Vaccarino FM; Child Study Center, Yale University, New Haven, CT 06520, USA.; Department of Neuroscience, Yale University, New Haven, CT 06520, USA., Pollen AA; Kavli Institute for Fundamental Neuroscience, University of California, San Francisco, CA 94143, USA.; Weill Institute for Neurosciences, University of California, San Francisco, CA 94158, USA.; Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA.; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94143, USA., Nowakowski TJ; Department of Anatomy, University of California, San Francisco, San Francisco, CA 94143, USA.; Department of Psychiatry, University of California, San Francisco, San Francisco, CA 94143, USA.; Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA 94143, USA.; Kavli Institute for Fundamental Neuroscience, University of California, San Francisco, CA 94143, USA.; Weill Institute for Neurosciences, University of California, San Francisco, CA 94158, USA.; Eli and Edythe Broad Center for Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA 94143, USA., Ahituv N; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA 94158, USA.; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94158, USA., Pollard KS; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94158, USA.; Gladstone Institutes, San Francisco, CA 94158, USA.; Chan Zuckerberg Biohub, San Francisco, San Francisco, CA 94158, USA.; Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA 94158, USA.

Publikováno v: Science (New York, N.Y.) [Science] 2024 May 24; Vol. 384 (6698), pp. eadh0559. Date of Electronic Publication: 2024 May 24.

Author Correction: Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis.

Autor: Jourdon A; Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Wu F; Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Mariani J; Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Capauto D; Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Norton S; Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Tomasini L; Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Amiri A; Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Suvakov M; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Schreiner JD; Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Jang Y; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Panda A; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Nguyen CK; Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Cummings EM; Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Han G; Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Powell K; Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Szekely A; Department of Neurology, Yale University School of Medicine, New Haven, CT, USA., McPartland JC; Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Pelphrey K; Child Study Center, Yale University School of Medicine, New Haven, CT, USA.; Brain Institute, Department of Neurology, University of Virginia School of Medicine, Charlottesville, VA, USA., Chawarska K; Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Ventola P; Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Abyzov A; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. abyzov.alexej@mayo.edu., Vaccarino FM; Child Study Center, Yale University School of Medicine, New Haven, CT, USA. flora.vaccarino@yale.edu.; Department of Neuroscience, Yale University School of Medicine, New Haven, CT, USA. flora.vaccarino@yale.edu.; Kavli Institute for Neuroscience, Yale University, New Haven, CT, USA. flora.vaccarino@yale.edu.

Publikováno v: Nature neuroscience [Nat Neurosci] 2023 Nov; Vol. 26 (11), pp. 2035.

Characterization of enhancer activity in early human neurodevelopment using Massively parallel reporter assay (MPRA) and forebrain organoids.

Autor: Capauto D; Child Study Center, Yale University, New Haven, CT 06520., Wang Y; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA., Wu F; Child Study Center, Yale University, New Haven, CT 06520., Norton S; Child Study Center, Yale University, New Haven, CT 06520., Mariani J; Child Study Center, Yale University, New Haven, CT 06520., Inoue F; Institute for the Advanced Study of Human Biology (WPI-ASHBi), Kyoto University; Kyoto, Japan., Crawford GE; Department of Pediatrics, Duke University, Durham, NC 27708 USA., Ahituv N; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco; San Francisco, CA, USA.; Institute for Human Genetics, University of California, San Francisco; San Francisco, CA, USA., Abyzov A; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA., Vaccarino FM; Child Study Center, Yale University, New Haven, CT 06520.; Department of Neuroscience, Yale University, New Haven, CT 06520, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2023 Aug 14. Date of Electronic Publication: 2023 Aug 14.

Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability.

Autor: Bae T; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Fasching L; Child Study Center, Yale University, New Haven, CT, USA., Wang Y; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Shin JH; Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA., Suvakov M; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Jang Y; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Norton S; Child Study Center, Yale University, New Haven, CT, USA., Dias C; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics and Department of Neurology, Harvard Medical School, Boston, MA, USA., Mariani J; Child Study Center, Yale University, New Haven, CT, USA., Jourdon A; Child Study Center, Yale University, New Haven, CT, USA., Wu F; Child Study Center, Yale University, New Haven, CT, USA., Panda A; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Pattni R; Department of Psychiatry and Behavioral Sciences and Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA., Chahine Y; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics and Department of Neurology, Harvard Medical School, Boston, MA, USA., Yeh R; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics and Department of Neurology, Harvard Medical School, Boston, MA, USA., Roberts RC; Department of Psychiatry and Behavioral Neurobiology, University of Alabama at Birmingham, Birmingham, AL, USA., Huttner A; Department of Pathology, Yale University, New Haven, CT, USA., Kleinman JE; Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.; Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, MD, USA., Hyde TM; Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, MD, USA., Straub RE; Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA., Walsh CA; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics and Department of Neurology, Harvard Medical School, Boston, MA, USA., Urban AE; Department of Psychiatry and Behavioral Sciences and Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA., Leckman JF; Child Study Center, Yale University, New Haven, CT, USA., Weinberger DR; Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Department of Neuroscience, Johns Hopkins School of Medicine, Baltimore, MD, USA., Vaccarino FM; Child Study Center, Yale University, New Haven, CT, USA.; Department of Neuroscience, Yale University, New Haven, CT, USA., Abyzov A; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.

Publikováno v: Science (New York, N.Y.) [Science] 2022 Jul 29; Vol. 377 (6605), pp. 511-517. Date of Electronic Publication: 2022 Jul 28.

Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns.

Autor: Millington D; a Department of Pediatrics , Duke University Medical Center , Durham , NC , USA., Norton S; b Baebies, Inc , Durham , NC , USA., Singh R; b Baebies, Inc , Durham , NC , USA., Sista R; b Baebies, Inc , Durham , NC , USA., Srinivasan V; b Baebies, Inc , Durham , NC , USA., Pamula V; b Baebies, Inc , Durham , NC , USA.

Publikováno v: Expert review of molecular diagnostics [Expert Rev Mol Diagn] 2018 Aug; Vol. 18 (8), pp. 701-712. Date of Electronic Publication: 2018 Jul 13.