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1. Full Text A genomic view of mosaicism and human disease
by Biesecker, Leslie G and Spinner, Nancy B
Nature reviews. Genetics, ISSN 1471-0056, 05/2013, Volume 14, Issue 5, pp. 307 - 320
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Oligonucleotide Array Sequence Analysis - methods | Humans | Cytogenetics - methods | Mosaicism | Polymorphism, Single Nucleotide | Mutation | Genome, Human | Genomics - methods | Sequence Analysis, DNA | DNA Copy Number Variations | Genetic aspects | Research | Gene mutations | Health aspects | Risk factors | Index Medicus
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2. Full Text Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
by Botkin, Jeffrey R and Belmont, John W and Berg, Jonathan S and Berkman, Benjamin E and Bombard, Yvonne and Holm, Ingrid A and Levy, Howard P and Ormond, Kelly E and Saal, Howard M and Spinner, Nancy B and Wilfond, Benjamin S and McInerney, Joseph D and ASHG Workgrp Pediat Genetic Genomi
American journal of human genetics, ISSN 0002-9297, 07/2015, Volume 97, Issue 1, pp. 6 - 21
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Laws, regulations and rules | Youth | Teenagers | Children | Management | Health aspects | Genetic screening | Ethical aspects | Medical ethics | Ethics | Genetic testing | Health education | Genomics | Index Medicus | ASHG Position Statement
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3. Full Text Expanded non-invasive prenatal diagnostics
by Spinner, Nancy B and Krantz, Ian D
Nature medicine, ISSN 1078-8956, 03/2019, Volume 25, Issue 3, pp. 361 - 362
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Pregnancy | Cell-Free Nucleic Acids | DNA | Humans | Prenatal Diagnosis | Female | Fetus | Prenatal Care | Medical colleges | Care and treatment | Genetic disorders | Pregnant women | Analysis | Research | Health aspects | Deoxyribonucleic acid--DNA | Index Medicus
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4. Full Text Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
by Miller, David T and Adam, Margaret P and Aradhya, Swaroop and Biesecker, Leslie G and Brothman, Arthur R and Carter, Nigel P and Church, Deanna M and Crolla, John A and Eichler, Evan E and Epstein, Charles J and Faucett, W. Andrew and Feuk, Lars and Friedman, Jan M and Hamosh, Ada and Jackson, Laird and Kaminsky, Erin B and Kok, Klaas and Krantz, Ian D and Kuhn, Robert M and Lee, Charles and Ostell, James M and Rosenberg, Carla and Scherer, Stephen W and Spinner, Nancy B and Stavropoulos, Dimitri J and Tepperberg, James H and Thorland, Erik C and Vermeesch, Joris R and Waggoner, Darrel J and Watson, Michael S and Martin, Christa Lese and Ledbetter, David H
American journal of human genetics, ISSN 0002-9297, 05/2010, Volume 86, Issue 5, pp. 749 - 764
IDIOPATHIC MENTAL-RETARDATION | CYTOGENETIC SURVEY | 17Q21.31 MICRODELETION SYNDROME | LOW-LEVEL MOSAICISM | COMPARATIVE GENOMIC HYBRIDIZATION | COPY-NUMBER VARIATIONS | DYSMORPHIC FEATURES | STRUCTURAL VARIATION | UMCG Approved | ARRAY-BASED TECHNOLOGY | OLIGONUCLEOTIDE MICROARRAY | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Chromosome Banding | Congenital Abnormalities - genetics | Humans | Karyotyping | Developmental Disabilities - genetics | Child | Chromosome Disorders - genetics | Usage | Care and treatment | Chromosome abnormalities | DNA microarrays | Child development deviations | Genetic aspects | Research | Diagnosis | Developmental disabilities | Genetic screening | Cytogenetics | Genetics | Congenital diseases | Genetic testing | Chromosomes | Index Medicus
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5. Full Text Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations
by Abou Tayoun, Ahmad N and Spinner, Nancy B and Rehm, Heidi L and Green, Robert C and Bianchi, Diana W
Prenatal diagnosis, ISSN 0197-3851, 01/2018, Volume 38, Issue 1, pp. 26 - 32
Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Diagnostic imaging | Nucleotide sequencing | Pregnant women | Genomics | DNA | DNA sequencing | Ethics | Laboratories | Fetuses | Diagnostic systems | Genomes | Deoxyribonucleic acid--DNA | Gene sequencing | Index Medicus
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6. Full Text How real are our data? Copy number variation in lymphoblastoid and other cell lines
by Spinner, Nancy B
Human mutation, ISSN 1059-7794, 07/2012, Volume 33, Issue 7, pp. v - v
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7. Full Text Parents’ Perceptions of the Usefulness of Chromosomal Microarray Analysis for Children with Autism Spectrum Disorders
by Reiff, Marian and Giarelli, Ellen and Bernhardt, Barbara A and Easley, Ebony and Spinner, Nancy B and Sankar, Pamela L and Mulchandani, Surabhi
Journal of autism and developmental disorders, ISSN 0162-3257, 10/2015, Volume 45, Issue 10, pp. 3262 - 3275
Autism spectrum disorders | Pediatrics | Child and School Psychology | Neurosciences | Public Health | Perceived utility | Psychology | Chromosomal microarray analysis | Genomic testing | Qualitative | Parent perspectives | Psychology, Developmental | Social Sciences | Intervention | Parent Attitudes | Behavior Modification | Use Studies | Parents | Access to Information | Semi Structured Interviews | Medical Services | Genetic Disorders | Surveys | Autism | Knowledge Level | Etiology | Pervasive Developmental Disorders | Genetics | Children | Autism Spectrum Disorder - genetics | Genetic Testing | Parents - psychology | Patient Acceptance of Health Care | Microarray Analysis | Humans | Child, Preschool | Female | Male | Autism Spectrum Disorder - psychology | Child | Autism Spectrum Disorder - diagnosis | Care and treatment | DNA microarrays | Patient outcomes | Pervasive developmental disorders | Development and progression | Research | Risk factors | Index Medicus
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8. Full Text Exome Sequencing in Individuals with Isolated Biliary Atresia
by Rajagopalan, Ramakrishnan and Tsai, Ellen A and Grochowski, Christopher M and Kelly, Susan M and Loomes, Kathleen M and Spinner, Nancy B and Devoto, Marcella
Scientific reports, ISSN 2045-2322, 02/2020, Volume 10, Issue 1, pp. 2709 - 2709
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Gene Expression | Genetic Predisposition to Disease | Heat-Shock Proteins - metabolism | Humans | Child, Preschool | Male | Mutation, Missense | Biliary Atresia - metabolism | Gene-Environment Interaction | Biliary Atresia - pathology | Case-Control Studies | Whole Exome Sequencing | Biliary Atresia - diagnosis | Exome | Heat-Shock Proteins - genetics | HSP90 Heat-Shock Proteins - metabolism | Nucleotidyltransferases - genetics | Female | HSP90 Heat-Shock Proteins - genetics | Polymorphism, Single Nucleotide | Nucleotidyltransferases - metabolism | Biliary Atresia - genetics | Child | Hsp90 protein | Biliary atresia | Liver diseases | Etiology | DNA repair | Risk factors | Cellular stress response | Index Medicus
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