Search Results - (Author, Cooperation:M. Fromer)
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1Latest Papers from Table of Contents or Articles in PressB. M. Neale ; Y. Kou ; L. Liu ; A. Ma'ayan ; K. E. Samocha ; A. Sabo ; C. F. Lin ; C. Stevens ; L. S. Wang ; V. Makarov ; P. Polak ; S. Yoon ; J. Maguire ; E. L. Crawford ; N. G. Campbell ; E. T. Geller ; O. Valladares ; C. Schafer ; H. Liu ; T. Zhao ; G. Cai ; J. Lihm ; R. Dannenfelser ; O. Jabado ; Z. Peralta ; U. Nagaswamy ; D. Muzny ; J. G. Reid ; I. Newsham ; Y. Wu ; L. Lewis ; Y. Han ; B. F. Voight ; E. Lim ; E. Rossin ; A. Kirby ; J. Flannick ; M. Fromer ; K. Shakir ; T. Fennell ; K. Garimella ; E. Banks ; R. Poplin ; S. Gabriel ; M. DePristo ; J. R. Wimbish ; B. E. Boone ; S. E. Levy ; C. Betancur ; S. Sunyaev ; E. Boerwinkle ; J. D. Buxbaum ; E. H. Cook, Jr. ; B. Devlin ; R. A. Gibbs ; K. Roeder ; G. D. Schellenberg ; J. S. Sutcliffe ; M. J. Daly
Nature Publishing Group (NPG)
Published 2012Staff ViewPublication Date: 2012-04-13Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Autistic Disorder/*genetics ; Case-Control Studies ; DNA-Binding Proteins/*genetics ; Exome/genetics ; Exons/*genetics ; Family Health ; Genetic Predisposition to Disease/*genetics ; Humans ; Models, Genetic ; Multifactorial Inheritance/genetics ; Mutation/*genetics ; Phenotype ; Poisson Distribution ; Protein Interaction Maps ; Transcription Factors/*geneticsPublished by: -
2Latest Papers from Table of Contents or Articles in PressM. Fromer ; A. J. Pocklington ; D. H. Kavanagh ; H. J. Williams ; S. Dwyer ; P. Gormley ; L. Georgieva ; E. Rees ; P. Palta ; D. M. Ruderfer ; N. Carrera ; I. Humphreys ; J. S. Johnson ; P. Roussos ; D. D. Barker ; E. Banks ; V. Milanova ; S. G. Grant ; E. Hannon ; S. A. Rose ; K. Chambert ; M. Mahajan ; E. M. Scolnick ; J. L. Moran ; G. Kirov ; A. Palotie ; S. A. McCarroll ; P. Holmans ; P. Sklar ; M. J. Owen ; S. M. Purcell ; M. C. O'Donovan
Nature Publishing Group (NPG)
Published 2014Staff ViewPublication Date: 2014-01-28Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Child Development Disorders, Pervasive/genetics ; Cytoskeletal Proteins/metabolism ; Exome/genetics ; Fragile X Mental Retardation Protein/metabolism ; Humans ; Intellectual Disability/genetics ; *Models, Neurological ; Mutation/*genetics ; Mutation Rate ; Nerve Net/*metabolism/physiopathology ; Nerve Tissue Proteins/metabolism ; Neural Pathways/*metabolism/physiopathology ; Phenotype ; RNA, Messenger/genetics/metabolism ; Receptors, N-Methyl-D-Aspartate/metabolism ; Schizophrenia/*genetics/metabolism/*physiopathology ; Substrate Specificity ; Synapses/*metabolismPublished by: -
3Latest Papers from Table of Contents or Articles in PressM. A. Rivas ; M. Pirinen ; D. F. Conrad ; M. Lek ; E. K. Tsang ; K. J. Karczewski ; J. B. Maller ; K. R. Kukurba ; D. S. DeLuca ; M. Fromer ; P. G. Ferreira ; K. S. Smith ; R. Zhang ; F. Zhao ; E. Banks ; R. Poplin ; D. M. Ruderfer ; S. M. Purcell ; T. Tukiainen ; E. V. Minikel ; P. D. Stenson ; D. N. Cooper ; K. H. Huang ; T. J. Sullivan ; J. Nedzel ; C. D. Bustamante ; J. B. Li ; M. J. Daly ; R. Guigo ; P. Donnelly ; K. Ardlie ; M. Sammeth ; E. T. Dermitzakis ; M. I. McCarthy ; S. B. Montgomery ; T. Lappalainen ; D. G. MacArthur
American Association for the Advancement of Science (AAAS)
Published 2015Staff ViewPublication Date: 2015-05-09Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Alternative Splicing ; Gene Expression Profiling ; *Gene Expression Regulation ; Gene Silencing ; *Genetic Variation ; Genome, Human/*genetics ; Heterozygote ; Humans ; Nonsense Mediated mRNA Decay ; Phenotype ; Proteins/*genetics ; *TranscriptomePublished by: -
4Latest Papers from Table of Contents or Articles in PressD. G. MacArthur ; S. Balasubramanian ; A. Frankish ; N. Huang ; J. Morris ; K. Walter ; L. Jostins ; L. Habegger ; J. K. Pickrell ; S. B. Montgomery ; C. A. Albers ; Z. D. Zhang ; D. F. Conrad ; G. Lunter ; H. Zheng ; Q. Ayub ; M. A. DePristo ; E. Banks ; M. Hu ; R. E. Handsaker ; J. A. Rosenfeld ; M. Fromer ; M. Jin ; X. J. Mu ; E. Khurana ; K. Ye ; M. Kay ; G. I. Saunders ; M. M. Suner ; T. Hunt ; I. H. Barnes ; C. Amid ; D. R. Carvalho-Silva ; A. H. Bignell ; C. Snow ; B. Yngvadottir ; S. Bumpstead ; D. N. Cooper ; Y. Xue ; I. G. Romero ; J. Wang ; Y. Li ; R. A. Gibbs ; S. A. McCarroll ; E. T. Dermitzakis ; J. K. Pritchard ; J. C. Barrett ; J. Harrow ; M. E. Hurles ; M. B. Gerstein ; C. Tyler-Smith
American Association for the Advancement of Science (AAAS)
Published 2012Staff ViewPublication Date: 2012-02-22Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Disease/genetics ; Gene Expression ; Gene Frequency ; *Genetic Variation ; *Genome, Human ; Humans ; Phenotype ; Polymorphism, Single Nucleotide ; Proteins/*genetics ; Selection, GeneticPublished by: -
5Latest Papers from Table of Contents or Articles in PressS. M. Purcell ; J. L. Moran ; M. Fromer ; D. Ruderfer ; N. Solovieff ; P. Roussos ; C. O'Dushlaine ; K. Chambert ; S. E. Bergen ; A. Kahler ; L. Duncan ; E. Stahl ; G. Genovese ; E. Fernandez ; M. O. Collins ; N. H. Komiyama ; J. S. Choudhary ; P. K. Magnusson ; E. Banks ; K. Shakir ; K. Garimella ; T. Fennell ; M. DePristo ; S. G. Grant ; S. J. Haggarty ; S. Gabriel ; E. M. Scolnick ; E. S. Lander ; C. M. Hultman ; P. F. Sullivan ; S. A. McCarroll ; P. Sklar
Nature Publishing Group (NPG)
Published 2014Staff ViewPublication Date: 2014-01-28Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Autistic Disorder/genetics ; Calcium Channels/genetics ; Cytoskeletal Proteins/genetics ; DNA Copy Number Variations/genetics ; Female ; Fragile X Mental Retardation Protein/metabolism ; Genome-Wide Association Study ; Humans ; Intellectual Disability/genetics ; Intracellular Signaling Peptides and Proteins/genetics ; Male ; Membrane Proteins/genetics ; Multifactorial Inheritance/*genetics ; Mutation/*genetics ; Nerve Tissue Proteins/genetics ; Receptors, N-Methyl-D-Aspartate/genetics ; Schizophrenia/*geneticsPublished by: -
6Latest Papers from Table of Contents or Articles in PressS. De Rubeis ; X. He ; A. P. Goldberg ; C. S. Poultney ; K. Samocha ; A. E. Cicek ; Y. Kou ; L. Liu ; M. Fromer ; S. Walker ; T. Singh ; L. Klei ; J. Kosmicki ; F. Shih-Chen ; B. Aleksic ; M. Biscaldi ; P. F. Bolton ; J. M. Brownfeld ; J. Cai ; N. G. Campbell ; A. Carracedo ; M. H. Chahrour ; A. G. Chiocchetti ; H. Coon ; E. L. Crawford ; S. R. Curran ; G. Dawson ; E. Duketis ; B. A. Fernandez ; L. Gallagher ; E. Geller ; S. J. Guter ; R. S. Hill ; J. Ionita-Laza ; P. Jimenz Gonzalez ; H. Kilpinen ; S. M. Klauck ; A. Kolevzon ; I. Lee ; I. Lei ; J. Lei ; T. Lehtimaki ; C. F. Lin ; A. Ma'ayan ; C. R. Marshall ; A. L. McInnes ; B. Neale ; M. J. Owen ; N. Ozaki ; M. Parellada ; J. R. Parr ; S. Purcell ; K. Puura ; D. Rajagopalan ; K. Rehnstrom ; A. Reichenberg ; A. Sabo ; M. Sachse ; S. J. Sanders ; C. Schafer ; M. Schulte-Ruther ; D. Skuse ; C. Stevens ; P. Szatmari ; K. Tammimies ; O. Valladares ; A. Voran ; W. Li-San ; L. A. Weiss ; A. J. Willsey ; T. W. Yu ; R. K. Yuen ; E. H. Cook ; C. M. Freitag ; M. Gill ; C. M. Hultman ; T. Lehner ; A. Palotie ; G. D. Schellenberg ; P. Sklar ; M. W. State ; J. S. Sutcliffe ; C. A. Walsh ; S. W. Scherer ; M. E. Zwick ; J. C. Barett ; D. J. Cutler ; K. Roeder ; B. Devlin ; M. J. Daly ; J. D. Buxbaum
Nature Publishing Group (NPG)
Published 2014Staff ViewPublication Date: 2014-11-05Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Amino Acid Sequence ; Child Development Disorders, Pervasive/*genetics/pathology ; Chromatin/*genetics/metabolism ; Chromatin Assembly and Disassembly ; Exome/genetics ; Female ; Genetic Predisposition to Disease/*genetics ; Germ-Line Mutation/genetics ; Humans ; Male ; Molecular Sequence Data ; Mutation/*genetics ; Mutation, Missense/genetics ; Nerve Net/metabolism ; Odds Ratio ; Synapses/*metabolism ; Transcription, Genetic/*geneticsPublished by: -
7Articles: DFG German National LicensesRosenquist, M. ; Brembilla-Perrot, B. ; Meinertz, T. ; Neugebauer, A. ; Crijns, H. J. M. G. ; Smeets, J. L. R. M. ; van der Vring, J. A. F. M. ; Fromer, M. ; Kobrin, I.
Springer
Published 1997Staff ViewISSN: 1432-1041Keywords: Key words Mibefradil; refractory periods ; electro physiology ; atrioventricular node ; calcium antagonistSource: Springer Online Journal Archives 1860-2000Topics: Chemistry and PharmacologyMedicineNotes: Abstract Objective : This multicenter, double-blind, placebo-controlled, parallel-group study was designed to assess the acute effects of intravenous mibefradil on the electrophysiologic characteristics of the human heart. Methods : Seventy-one patients referred for routine electrophysiologic testing were randomized to receive one of three intravenous treatments: placebo $n=23$ , 15 mg mibefradil in 15 min followed by 25 mg in 60 min (group 1, $n=24$ ), or 35 mg mibefradil in 15 min followed by 45 mg in 60 min (group 2, $n=24$ ). Electrophysiologic evaluations were performed prior to study drug administration and 30 min after the start of the infusion. Plasma samples were obtained at the start of the infusion and after 15, 75, and 105 min. Results : Sinus node recovery time decreased significantly in Group 1 patients (−103 ms). Corrected sinus node recovery time in group 2 patients was 68.7 ms $(P=0.053)$ . Compared to placebo, mibefradil produced mild but significant slowing of conduction in group 2 patients as manifested by an increase in the AH interval of 6.7 ms. Atrioventricular (AV) nodal refractoriness was increased, as indicated by a prolongation of the Wenckebach point in patients in both group 1 (32.1 ms) and group 2 (32.5 ms), compared to placebo. All adverse events were classified as mild to moderate and only one event (vasovagal attack) was considered to be treatment related. Conclusions : At plasma levels close to those found after chronic oral administration of 50 and 100 mg mibefradil, the higher dose produced an increase in corrected sinus node recovery time. Mibefradil also produced small but significant effects on AV nodal conduction and increased AV nodal refractoriness. Mibefradil had no effect on any other electrophysiologic parameter and was well tolerated.Type of Medium: Electronic ResourceURL: -
8Articles: DFG German National LicensesVetter, R. ; Celka, P. ; Vesin, J. M. ; Thonet, G. ; Pruvot, E. ; Fromer, M. ; Scherrer, U. ; Bernardi, L.
Springer
Published 1998Staff ViewISSN: 1573-9686Keywords: Cardiovascular system ; Autonomic nervous system ; Subband decomposition ; Wavelet filter bank ; Multidimensional linear modeling ; Subband modeling ; Cardiovascular regulationSource: Springer Online Journal Archives 1860-2000Topics: MedicineTechnologyNotes: Abstract We present a new approach to cardiovascular analysis based on a well-known signal processing technique, namely, the frequency subband decomposition. The subbands are chosen in accordance with physiological standards: (1) 0–0.04 Hz, (2) 0.04–0.15 Hz, (3) 0.15–0.4 Hz. It is shown that such a pre-processing drastically improves the accuracy of the analysis and introduces a new direction in the understanding of the relationships between cardiovascular signals. © 1998 Biomedical Engineering Society. PAC98: 8710+eType of Medium: Electronic ResourceURL: