Search Results - (Author, Cooperation:N. Krumm)
-
1I. Iossifov ; B. J. O'Roak ; S. J. Sanders ; M. Ronemus ; N. Krumm ; D. Levy ; H. A. Stessman ; K. T. Witherspoon ; L. Vives ; K. E. Patterson ; J. D. Smith ; B. Paeper ; D. A. Nickerson ; J. Dea ; S. Dong ; L. E. Gonzalez ; J. D. Mandell ; S. M. Mane ; M. T. Murtha ; C. A. Sullivan ; M. F. Walker ; Z. Waqar ; L. Wei ; A. J. Willsey ; B. Yamrom ; Y. H. Lee ; E. Grabowska ; E. Dalkic ; Z. Wang ; S. Marks ; P. Andrews ; A. Leotta ; J. Kendall ; I. Hakker ; J. Rosenbaum ; B. Ma ; L. Rodgers ; J. Troge ; G. Narzisi ; S. Yoon ; M. C. Schatz ; K. Ye ; W. R. McCombie ; J. Shendure ; E. E. Eichler ; M. W. State ; M. Wigler
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: Child ; Child Development Disorders, Pervasive/*genetics ; Cluster Analysis ; Exome/genetics ; Female ; Genes ; Genetic Predisposition to Disease/*genetics ; Humans ; Intelligence Tests ; Male ; Mutation/*genetics ; Open Reading Frames/*genetics ; Reproducibility of ResultsPublished by: -
2P. H. Sudmant ; S. Mallick ; B. J. Nelson ; F. Hormozdiari ; N. Krumm ; J. Huddleston ; B. P. Coe ; C. Baker ; S. Nordenfelt ; M. Bamshad ; L. B. Jorde ; O. L. Posukh ; H. Sahakyan ; W. S. Watkins ; L. Yepiskoposyan ; M. S. Abdullah ; C. M. Bravi ; C. Capelli ; T. Hervig ; J. T. Wee ; C. Tyler-Smith ; G. van Driem ; I. G. Romero ; A. R. Jha ; S. Karachanak-Yankova ; D. Toncheva ; D. Comas ; B. Henn ; T. Kivisild ; A. Ruiz-Linares ; A. Sajantila ; E. Metspalu ; J. Parik ; R. Villems ; E. B. Starikovskaya ; G. Ayodo ; C. M. Beall ; A. Di Rienzo ; M. F. Hammer ; R. Khusainova ; E. Khusnutdinova ; W. Klitz ; C. Winkler ; D. Labuda ; M. Metspalu ; S. A. Tishkoff ; S. Dryomov ; R. Sukernik ; N. Patterson ; D. Reich ; E. E. Eichler
American Association for the Advancement of Science (AAAS)
Published 2015Staff ViewPublication Date: 2015-08-08Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: African Continental Ancestry Group/classification/genetics ; Animals ; *DNA Copy Number Variations ; *Evolution, Molecular ; *Gene Duplication ; Genome, Human/*genetics ; Hominidae/genetics ; Humans ; Oceanic Ancestry Group/classification/genetics ; Phylogeny ; Polymorphism, Single Nucleotide ; Population/*genetics ; Selection, Genetic ; *Sequence DeletionPublished by: -
3B. J. O'Roak ; L. Vives ; W. Fu ; J. D. Egertson ; I. B. Stanaway ; I. G. Phelps ; G. Carvill ; A. Kumar ; C. Lee ; K. Ankenman ; J. Munson ; J. B. Hiatt ; E. H. Turner ; R. Levy ; D. R. O'Day ; N. Krumm ; B. P. Coe ; B. K. Martin ; E. Borenstein ; D. A. Nickerson ; H. C. Mefford ; D. Doherty ; J. M. Akey ; R. Bernier ; E. E. Eichler ; J. Shendure
American Association for the Advancement of Science (AAAS)
Published 2012Staff ViewPublication Date: 2012-11-20Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Cephalometry ; Child ; Child Development Disorders, Pervasive/*genetics ; Child, Preschool ; Chromatin Assembly and Disassembly ; Cohort Studies ; DNA Probes ; DNA-Binding Proteins/genetics ; Exome ; Female ; *Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Male ; Megalencephaly/genetics ; Microcephaly/genetics ; *Mutation ; Nuclear Proteins/genetics ; PTEN Phosphohydrolase/genetics ; Protein-Serine-Threonine Kinases/genetics ; Protein-Tyrosine Kinases/genetics ; Receptors, Cytoplasmic and Nuclear/genetics ; Receptors, N-Methyl-D-Aspartate/genetics ; Repressor Proteins/genetics ; Sequence Analysis, DNA/*methods ; T-Box Domain Proteins/genetics ; Transcription Factors/genetics ; beta Catenin/genetics/metabolismPublished by: -
4B. J. O'Roak ; L. Vives ; S. Girirajan ; E. Karakoc ; N. Krumm ; B. P. Coe ; R. Levy ; A. Ko ; C. Lee ; J. D. Smith ; E. H. Turner ; I. B. Stanaway ; B. Vernot ; M. Malig ; C. Baker ; B. Reilly ; J. M. Akey ; E. Borenstein ; M. J. Rieder ; D. A. Nickerson ; R. Bernier ; J. Shendure ; E. E. Eichler
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 ; DNA-Binding Proteins/genetics ; Exome/*genetics ; Exons/*genetics ; GPI-Linked Proteins/genetics ; Genetic Predisposition to Disease/genetics ; Humans ; Laminin/genetics ; NAV1.1 Voltage-Gated Sodium Channel ; Nerve Tissue Proteins/genetics ; Parents ; Point Mutation/*genetics ; Protein Interaction Maps/*genetics ; Receptors, N-Methyl-D-Aspartate/genetics ; Reproducibility of Results ; Siblings ; Signal Transduction ; Sodium Channels/genetics ; Stochastic Processes ; Transcription Factors/genetics ; Tumor Suppressor Protein p53/metabolism ; beta Catenin/metabolismPublished by: