Recommended Readings: Anna Wedell, M.D., Ph.D., Friday November 2, 2018

Friday Lectures

Friday, November 2, 2018  3:45 p.m.

Caspary Auditorium

Anna Wedell, M.D., Ph.D.


Department of Molecular Medicine and Surgery

Karolinska Institute


Clinical Whole Genome Sequencing Sheds Light on Novel Metabolic Pathways in the Brain


Recommended Readings:

Empirical Articles

Baric, Ivo; Staufner, Christian; Augoustides-Savvopoulou, Persephone; et al. (2017). Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders. JOURNAL OF INHERITED METABOLIC DISEASE. 40 (1): 5-20

Siibak, Triinu; Clemente, Paula; Bratic, Ana; et al. (2017). A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.  26 (13): 2515-2525

Dahlin, Maria; Martin, Daniel A.; Hedlund, Zandra; et al. (2015). The ketogenic diet compensates for AGC1 deficiency and improves myelination. EPILEPSIA. 56 (11): e176-e181

Brownstein, Catherine A.; Beggs, Alan H.; Homer, Nils; et al. (2014). An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. GENOME BIOLOGY. (15) 3

Stranneheim, Henrik; Engvall, Martin; Naess, Karin; et al. (2014). Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism. BMC GENOMICS. 15

Gidlof, Sebastian; Falhammar, Henrik; Thilen, Astrid; et al. (2013). One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study. LANCET DIABETES & ENDOCRINOLOGY. 1 (1): 35-42

Bjursell, Magnus K.; Blom, Henk J.; Cayuela, Jordi Asin; et al. (2011). Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function. AMERICAN JOURNAL OF HUMAN GENETICS. 89 (4): 507-515

Wibom, Rolf; Lasorsa, Francesco M.; Tohonen, Virpi; et al. (2009). AGC1 Deficiency Associated with Global Cerebral Hypomyelination.  NEW ENGLAND JOURNAL OF MEDICINE. 361 (5): 489-495

Recommended Readings: Michael Greenberg, Ph.D. Friday March 9th, 2018

Friday Lectures

Friday, March 9th, 2018  3:45 p.m.

Caspary Auditorium

Michael Greenberg, Ph.D.

Department Chair and Nathan Marsh Pusey Professor

Department of Neurobiology

Harvard Medical School

How Nature and Nurture Conspire to Control Brain Development and Function

Recommended Readings:

Empirical Articles

Kalish, Brian T.; Cheadle, Lucas; Hrvatin, Sinisa; et al. (2018). Single-cell transcriptomics of the developing lateral geniculate nucleus reveals insights into circuit assembly and refinement. PNAS. 115 (5): E1051-E1060

Hrvatin, Sinisa; Hochbaum, Daniel R.; Nagy, M. Aurel; et al. (2018). Single-cell analysis of experience-dependent transcriptomic states in the mouse visual cortex. NATURE NEUROSCIENCE. 21 (1): 120-+

Gabel, Harrison W.; Kinde, Benyam; Stroud, Hume; et al. (2015). Disruption of DNA-methylation-dependent long gene repression in Rett syndrome. NATURE. 522 (7554): 89-U221

Malik, Athar N.; Vierbuchen, Thomas; Hemberg, Martin; et al. (2014). Genome-wide identification and characterization of functional neuronal activity-dependent enhancers. NATURE NEUROSCIENCE. 17 (10): 1330-1339

West, Anne E.; Greenberg, Michael E. (2011). Neuronal Activity-Regulated Gene Transcription in Synapse Development and Cognitive Function. COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY. 3 (6)

Greer, Paul L.; Hanayama, Rikinari; Bloodgood, Brenda L.; et al. (2010). The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc. CELL. 140 (5): 704-716

Review Papers

Hardingham, Giles E.; Pruunsild, Priit; Greenberg, Michael E.; et al. (2018). Lineage divergence of activity-driven transcription and evolution of cognitive ability. NATURE REVIEWS NEUROSCIENCE. 19 (1): 9-15

Ebert, Daniel H.; Greenberg, Michael E. (2013). Activity-dependent neuronal signalling and autism spectrum disorder. NATURE. 493 (7432): 327-337

Book Chapter

Flavell, Steven W.; Greenberg, Michael E. (2008). Signaling mechanisms linking neuronal activity to gene expression and plasticity of the nervous system. ANNUAL REVIEW OF NEUROSCIENCE. 31: 563-590


Recommended Readings: Sten Linnarsson, Ph.D. Friday November 10th, 2017

Friday Lectures

Friday, November 10, 2017  3:45 p.m.

Caspary Auditorium

Sten Linnarsson, Ph.D.


Department of Medical Biochemistry and Biophysics

Karolinska Institute

Unraveling Brain Development using Single-cell Technologies

Recommended Readings:


Ed Yong. Oct 14, 2016. A Google Maps for the Human Body. The Atlantic

Empirical Articles

Cervo, Pia Rivetti di Val; Romanov, Roman A.; Spigolon, Giada; et al. (2017). Induction of functional dopamine neurons from human astrocytes in vitro and mouse astrocytes in a Parkinson’s disease model. NATURE. 35 (5): 444-+

La Manno, Gioele; Gyllborg, Daniel; Codeluppi, Simone; et al. (2016). Molecular Diversity of Midbrain Development in Mouse, Human, and Stem Cells. CELL. 167 (2): 566-+  

Marques, Sueli; Zeisel, Amit; Codeluppi, Simone; et al. (2016). Oligodendrocyte heterogeneity in the mouse juvenile and adult central nervous system. SCIENCE. 352 (6291): 1326-1329

Zeisel, Amit; Munoz-Manchado, Ana B.; Codeluppi, Simone; et al. (2015). Cell types in the mouse cortex and hippocampus revealed by single-cell RNA-seq. SCIENCE. 347 (6226): 1138-1142

Islam, Saiful; Zeisel, Amit; Joost, Simon; et al. (2014). Quantitative single-cell RNA-seq with unique molecular identifiers.  NATURE METHODS. 11 (2): 163-+

Review Paper

Shapiro, Ehud; Biezuner, Tamir; Linnarsson, Sten (2013). Single-cell sequencing-based technologies will revolutionize whole-organism science.  NATURE REVIEWS GENETICS. 14 (9): 618-630