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Author Details

Michael M Segal
PhenoSolve Inc.
1980
31
16
PMIDPaper TitleJournal TitlePublished Year
35815177Lidocaine Ineffectiveness Suggests New Psychopharmacology Drug Target.Psychopharmacol Bull2022
33264411The Human Phenotype Ontology in 2021.Nucleic Acids Res2021
33962988User testing of a diagnostic decision support system with machine-assisted chart review to facilitate clinical genomic diagnosis.BMJ Health Care Inform2021
32698834Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians.Orphanet J Rare Dis2020
29204811Impact of a Patient-Facing Enhanced Genomic Results Report to Improve Understanding, Engagement, and Communication.J Genet Couns2018
29930964Experience with Integrating Diagnostic Decision Support Software with Electronic Health Records: Benefits versus Risks of Information Sharing.EGEMS (Wash DC)2017
26842872Enhancing genomic laboratory reports: A qualitative analysis of provider review.Am J Med Genet A2016
27964737Evidence-based decision support for pediatric rheumatology reduces diagnostic errors.Pediatr Rheumatol Online J2016
25156663Clinical pertinence metric enables hypothesis-independent genome-phenome analysis for neurologic diagnosis.J Child Neurol2015
27054075Genome interpretation: Clinical correlation is recommended.Appl Transl Genom2015
26086630Enhancing genomic laboratory reports from the patients' view: A qualitative analysis.Am J Med Genet A2015
23576414Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup.J Child Neurol2014
24938135We cannot say whether attention deficit hyperactivity disorder exists, but we can find its molecular mechanisms.Pediatr Neurol2014
24667040An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.Genome Biol2014
22517101Decision support for diagnosis: co-evolution of tools and resources.Neurology2012
17850393How doctors think, and how software can help avoid cognitive errors in diagnosis.Acta Paediatr2007
18174562Hypokalemic sensory overstimulation.J Child Neurol2007
16970851Mobile medical computing driven by the complexity of neurologic diagnosis.J Child Neurol2006
12503086Mature myelin basic protein-expressing oligodendrocytes are insensitive to kainate toxicity.J Neurosci Res2003
11771645Sodium channels and epilepsy electrophysiology.Novartis Found Symp2002
9697119Neuroprotective concentrations of the N-methyl-D-aspartate open-channel blocker memantine are effective without cytoplasmic vacuolation following post-ischemic administration and do not block maze learning or long-term potentiation.Neuroscience1998
9212254Late sodium channel openings underlying epileptiform activity are preferentially diminished by the anticonvulsant phenytoin.J Neurophysiol1997
9122206Molecular characterization of Br-cadherin, a developmentally regulated, brain-specific cadherin.Proc Natl Acad Sci U S A1997
8986827Nitric oxide-related species inhibit evoked neurotransmission but enhance spontaneous miniature synaptic currents in central neuronal cultures.Proc Natl Acad Sci U S A1996
7715778N-methyl-D-aspartate receptors are critical for mediating the effects of glutamate on intracellular calcium concentration and immediate early gene expression in cultured hippocampal neurons.Neuroscience1995
7823106Endogenous bursts underlie seizurelike activity in solitary excitatory hippocampal neurons in microcultures.J Neurophysiol1994
1646871Epileptiform activity in microcultures containing one excitatory hippocampal neuron.J Neurophysiol1991
2283535Epileptiform activity in microcultures containing small numbers of hippocampal neurons.J Neurophysiol1990
6635188A constraint on synaptic action in Aplysia: implications for nervous system organization.Prog Brain Res1983
7069462Convergent cholinergic neurons produce similar postsynaptic actions in Aplysia: implications for neural organization.J Neurophysiol1982
7417796Different cholinergic synapses converging onto neurons in Aplysia produce the same synaptic action.Brain Res1980
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Collaborators

Marc S Williams
University of Washington Medical Center
Co-authored papers 8
Alanna Kulchak Rahm
Research Institute
Co-authored papers 5
Janet L Williams
Genomic Medicine Institute
Co-authored papers 4
Stuart A Lipton
The Scripps Research Institute, University of California
Co-authored papers 3
Joseph G Gleeson
University of California
Co-authored papers 2
Gerard Tromp
Biomedical Research Institute, Stellenbosch University.
Co-authored papers 2
David Zurakowski
Harvard Medical School, Boston Children's Hospital
Co-authored papers 2
Rebecca A Betensky
New York University.
Co-authored papers 2
Francisco M De La Vega
Stanford University School of Medicine
Co-authored papers 2
Ignaty Leshchiner
Broad Institute of Massachusetts Institute of Technology and Harvard
Co-authored papers 1
Reece K Hart
Broad Institute of MIT and Harvard
Co-authored papers 1
Julie A McMurry
University of Colorado - Anschutz Medical Campus
Co-authored papers 1
Monica C Munoz-Torres
University of Colorado Anschutz Medical Campus
Co-authored papers 1
Julie Xian
Children's Hospital of Philadelphia
Co-authored papers 1
Mark Yandell
University of Utah
Co-authored papers 1
David M Margulies
Renaissance School of Medicine, Stony Brook University
Co-authored papers 1
Catherine A Brownstein
Harvard Medical School.
Co-authored papers 1
Tim Jeske
Dr. von Hauner Children's Hospital
Co-authored papers 1
Christoph Klein
Kinderklinik und Kinderpoliklinik der Ludwig-Maximilians-Universitat Munchen
Co-authored papers 1
Rebecca L Peters
American College of Medical Genetics and Genomics (ACMG)
Co-authored papers 1
Christopher R Pierson
Co-authored papers 1
Michael J Hartnett
American College of Medical Genetics and Genomics (ACMG)
Co-authored papers 1
Michael F Murray
Yale School of Medicine
Co-authored papers 1
Anne E Kwitek
Medical College of Wisconsin
Co-authored papers 1
Gustavo Glusman
Institute for Systems Biology
Co-authored papers 1
Barry Moore
Utah Center for Genetic Discovery, University of Utah
Co-authored papers 1
Isaac S Kohane
Harvard Medical School
Co-authored papers 1
Christina K Rapp
Ludwig-Maximilians University, German Center for Lung Research (DZL)
Co-authored papers 1
Matthew S Lebo
Harvard Medical School, Brigham and Women's Hospital
Co-authored papers 1
Peter Freisinger
Hospital Reutlingen
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Release 1.2