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sequence analysis, dna (3) 3
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1. Full Text Emily H. Wood. June 2, 1900. -- Ordered to be printed
by Turner, George
1900, United States congressional serial set, Volume no. 1645, 2
Wood, Oliver | Legislative Report - Private Bills | Claims | Survivors' benefits | United States | Military pensions | Wood, Emily H | Disabled veterans
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2. Full Text Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes
by Dorschner, Michael O and Amendola, Laura M and Turner, Emily H and Robertson, Peggy D and Shirts, Brian H and Gallego, Carlos J and Bennett, Robin L and Jones, Kelly L and Tokita, Mari J and Bennett, James T and Kim, Jerry H and Rosenthal, Elisabeth A and Kim, Daniel S and Tabor, Holly K and Bamshad, Michael J and Motulsky, Arno G and Scott, C. Ronald and Pritchard, Colin C and Walsh, Tom and Burke, Wylie and Raskind, Wendy H and Byers, Peter and Hisama, Fuki M and Nickerson, Deborah A and Jarvik, Gail P and National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project and Natl Heart Lung And Blood Inst and Grand Opportunity Exome Sequencing
American journal of human genetics, ISSN 0002-9297, 10/2013, Volume 93, Issue 4, pp. 631 - 640
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome | Genetic Predisposition to Disease | Disease - genetics | Gene Frequency | Humans | Databases, Genetic | Incidental Findings | Penetrance | Polymorphism, Single Nucleotide | Research | Nucleotide sequencing | Gene expression | Genomics | DNA sequencing | Genomes | Biological variation | Mutation | Index Medicus
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3. Full Text Targeted capture and massively parallel sequencing of 12 human exomes
by Wong, Michelle and Ng, Sarah B and Robertson, Peggy D and Lee, Choli and Shaffer, Tristan and Nickerson, Deborah A and Bigham, Abigail W and Eichler, Evan E and Turner, Emily H and Bamshad, Michael and Shendure, Jay and Bhattacharjee, Arindam and Flygare, Steven D
Nature, ISSN 0028-0836, 09/2009, Volume 461, Issue 7261, pp. 272 - 276
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Gene Frequency - genetics | Genetic Predisposition to Disease - genetics | Gene Library | Oligonucleotide Array Sequence Analysis | RNA Splice Sites - genetics | Humans | Exons - genetics | INDEL Mutation - genetics | Genetic Testing - methods | Genome, Human - genetics | Syndrome | Haplotypes - genetics | Sample Size | Sensitivity and Specificity | Polymorphism, Single Nucleotide - genetics | Genetic Variation - genetics | Genes, Dominant - genetics | Sequence Analysis, DNA - methods | Genomes | Research | Nucleotide sequencing | Frequency distribution | Databases | Genetic testing | Sample size | Genes | Index Medicus
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4. Full Text Target-enrichment strategies for next-generation sequencing
by Shendure, Jay and Kozarewa, Iwanka and Scott, Carol E and Howard, Eleanor and Mamanova, Lira and Turner, Emily H and Kumar, Akash and Turner, Daniel J and Coffey, Alison J
Nature methods, ISSN 1548-7091, 02/2010, Volume 7, Issue 2, pp. 111 - 118
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Biochemical Research Methods | Science & Technology | Chromosome Mapping - trends | In Situ Hybridization - trends | Gene Targeting - trends | Polymerase Chain Reaction - trends | Molecular Probe Techniques - trends | Forecasting | Sequence Analysis, DNA - trends | Usage | Genomes | Research | Nucleotide sequencing | Biotechnology | Eukaryotes | Genomics | Index Medicus
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5. Full Text WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
by Pyott, Shawna M and Tran, Thao T and Leistritz, Dru F and Pepin, Melanie G and Mendelsohn, Nancy J and Temme, Renee T and Fernandez, Bridget A and Elsayed, Solaf M and Elsobky, Ezzat and Verma, Ishwar and Nair, Sreelata and Turner, Emily H and Smith, Joshua D and Jarvik, Gail P and Byers, Peter H
American journal of human genetics, ISSN 0002-9297, 04/2013, Volume 92, Issue 4, pp. 590 - 597
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Wnt1 Protein - genetics | Genes, Recessive - genetics | Humans | Child, Preschool | Osteogenesis Imperfecta - genetics | Infant | Male | Mutation - genetics | Disease Progression | Young Adult | Pedigree | Adult | Female | Osteogenesis Imperfecta - pathology | Child | RNA sequencing | Care and treatment | Gene mutations | Analysis | Osteogenesis imperfecta | Research | Diagnosis | Protein-protein interactions | Osteoporosis | Fractures | RNA | Collagen | Low density lipoproteins | Genomics | Medical genetics | Bones | Genetic aspects | Density | Protein binding | Signal transduction | Genetic disorders | Genetic research | Bone density | Mutation | Binding sites | Index Medicus | Report
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6. Full Text Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
by O'Roak, Brian J and O ’ Roak, Brian J and Vives, Laura and Girirajan, Santhosh and Karakoc, Emre and Krumm, Niklas and Krumm, Niklas and Coe, Bradley P and Levy, Roie and Levy, Roie and Ko, Arthur and Lee, Choli and Smith, Joshua D and Turner, Emily H and Stanaway, Ian B and Vernot, Benjamin and Malig, Maika and Baker, Carl and Akey, Joshua M and Reilly, Beau and Borenstein, Elhanan and Akey, Joshua M and Borenstein, Elhanan and Rieder, Mark J and Rieder, Mark J and Nickerson, Deborah A and Nickerson, Deborah A and Bernier, Raphael and Bernier, Raphael and Shendure, Jay and Eichler, Evan E and Shendure, Jay and Eichler, Evan E
Nature (London), ISSN 0028-0836, 05/2012, Volume 484, Issue 7397, pp. 246 - 250
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | Psychology. Psychoanalysis. Psychiatry | Infantile autism | Psychopathology. Psychiatry | Developmental disorders | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Child clinical studies | Autistic Disorder - genetics | Genetic Predisposition to Disease - genetics | Reproducibility of Results | Signal Transduction | Humans | Parents | Tumor Suppressor Protein p53 - metabolism | Exons - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | beta Catenin - metabolism | Netrins | Receptors, N-Methyl-D-Aspartate - genetics | Laminin - genetics | NAV1.1 Voltage-Gated Sodium Channel | Point Mutation - genetics | Exome - genetics | Protein Interaction Maps - genetics | Stochastic Processes | Sodium Channels - genetics | GPI-Linked Proteins - genetics | Siblings | Care and treatment | Gene mutations | Genetic variation | Pervasive developmental disorders | Genetic aspects | Research | Health aspects | Risk factors | Autism | Genetics | Mutation | Genes | Index Medicus
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7. Full Text Massively parallel exon capture and library-free resequencing across 16 genomes
by Turner, Emily H and Shendure, Jay and Lee, Choli and Nickerson, Deborah A and Ng, Sarah B
Nature methods, ISSN 1548-7091, 05/2009, Volume 6, Issue 5, pp. 315 - 316
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Biochemical Research Methods | Science & Technology | Nucleic Acid Hybridization - methods | Gene Frequency - genetics | Gene Library | Humans | Exons - genetics | Genotype | Male | Genome, Human - genetics | Polymerase Chain Reaction | DNA Probes - genetics | Polymorphism, Single Nucleotide - genetics | Female | Sequence Analysis, DNA - methods | Genomic libraries | Nucleotide sequencing | Molecular probes | Analysis | Exon (Molecular genetics) | Methods | Index Medicus
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8. Full Text Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
by Brian J. O'Roak and Laura Vives and Wenqing Fu and Jarrett D. Egertson and Ian B. Stanaway and Ian G. Phelps and Gemma Carvill and Akash Kumar and Choli Lee and Katy Ankenman and Jeff Munson and Joseph B. Hiatt and Emily H. Turner and Roie Levy and Diana R. O'Day and Niklas Krumm and Bradley P. Coe and Beth K. Martin and Elhanan Borenstein and Deborah A. Nickerson and Heather C. Mefford and Dan Doherty and Joshua M. Akey and Raphael Bernier and Evan E. Eichler and Jay Shendure
Science (American Association for the Advancement of Science), ISSN 0036-8075, 12/2012, Volume 338, Issue 6114, pp. 1619 - 1622
Exome | Genetic variation | Pervasive child development disorders | DNA | REPORTS | Cell lines | Genetic loci | Genomes | Genetic mutation | Sequencing | Cells | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | Psychology. Psychoanalysis. Psychiatry | Infantile autism | Psychopathology. Psychiatry | Developmental disorders | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Child clinical studies | Microcephaly - genetics | Humans | Child, Preschool | Male | Cephalometry | Receptors, N-Methyl-D-Aspartate - genetics | Protein-Tyrosine Kinases - genetics | Female | Nuclear Proteins - genetics | Child | Megalencephaly - genetics | DNA Probes | PTEN Phosphohydrolase - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Protein-Serine-Threonine Kinases - genetics | Chromatin Assembly and Disassembly | Repressor Proteins - genetics | Receptors, Cytoplasmic and Nuclear - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | T-Box Domain Proteins - genetics | beta Catenin - metabolism | beta Catenin - genetics | Child Development Disorders, Pervasive - genetics | Mutation | Sequence Analysis, DNA - methods | Cohort Studies | Genetic aspects | Research | Nucleotide sequencing | Gene mutations | Pervasive developmental disorders | DNA sequencing | Autism | Genotype & phenotype | Genomics | Index Medicus | Multiplexing | Mutations | Genes | Inversions | Disorders | Online | Gene sequencing
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9. Full Text Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia
by Horani, Amjad and Druley, Todd E and Zariwala, Maimoona A and Patel, Anand C and Levinson, Benjamin T and Van Arendonk, Laura G and Thornton, Katherine C and Giacalone, Joe C and Albee, Alison J and Wilson, Kate S and Turner, Emily H and Nickerson, Deborah A and Shendure, Jay and Bayly, Philip V and Leigh, Margaret W and Knowles, Michael R and Brody, Steven L and Dutcher, Susan K and Ferkol, Thomas W
American journal of human genetics, ISSN 0002-9297, 10/2012, Volume 91, Issue 4, pp. 685 - 693
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Complex syndromes | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Genetic Predisposition to Disease | Epithelial Cells - metabolism | Chromosome Disorders - metabolism | Humans | Infant | Male | Kartagener Syndrome - genetics | Mutation, Missense | Genes, Recessive | Exome | Proteins - genetics | Young Adult | Chlamydomonas reinhardtii - genetics | Respiratory System - metabolism | Kartagener Syndrome - metabolism | Adult | Female | Child | Sequence Analysis, DNA - methods | Chromosome Disorders - genetics | Usage | Gene mutations | Genetic susceptibility | Cilia and ciliary motion | Exome sequencing | Physiological aspects | Causes of | Genetic aspects | Research | Movement disorders | Genotype & phenotype | Genetic disorders | Mutation | Algae | Genes | Cells | Index Medicus | Report
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10. Full Text Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
by Ng, Bobby G and Buckingham, Kati J and Raymond, Kimiyo and Kircher, Martin and Turner, Emily H and He, Miao and Smith, Joshua D and Eroshkin, Alexey and Szybowska, Marta and Losfeld, Marie E and Chong, Jessica X and Kozenko, Mariya and Li, Chumei and Patterson, Marc C and Gilbert, Rodney D and Nickerson, Deborah A and Shendure, Jay and Bamshad, Michael J and Freeze, Hudson H and University of Washington Center for Mendelian Genomics and Univ Washington
American journal of human genetics, ISSN 0002-9297, 04/2013, Volume 92, Issue 4, pp. 632 - 636
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Child, Preschool | Male | Glycosylation | Congenital Disorders of Glycosylation - metabolism | Mutation - genetics | Case-Control Studies | Congenital Disorders of Glycosylation - pathology |