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1. Subtelomeric microdeletion syndromes
by Spinner, Nancy B and Krantz, Ian D
2007, American journal of medical genetics., Volume 145C, no. 4., 323-398
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2. 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
Non-invasive prenatal diagnostics allow for the successful identification of paternally inherited and de novo mongenic diseases using circulating cell-free DNA. 
MEDICINE, RESEARCH & EXPERIMENTAL | ANEUPLOIDY | DNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | Pregnancy | Cell-Free Nucleic Acids | 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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3. Full Text Transcriptional Dysregulation in NIPBLand Cohesin Mutant Human Cells
by Liu, Jinglan and Zhang, Zhe and Bando, Masashige and Itoh, Takehiko and Deardorff, Matthew A and Clark, Dinah and Kaur, Maninder and Tandy, Stephany and Kondoh, Tatsuro and Rappaport, Eric and Spinner, Nancy B and Vega, Hugo and Jackson, Laird G and Shirahige, Katsuhiko and Krantz, Ian D
PLoS Biology, ISSN 1544-9173, 05/2009, Volume 7, Issue 5
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4. Full Text "What does it mean?": Uncertainties in understanding results of chromosomal microarray testing
by Reiff, Marian and Bernhardt, Barbara A and Mulchandani, Surabhi and Soucier, Danielle and Cornell, Diana and Pyeritz, Reed E and Spinner, Nancy B
Genetics in Medicine, ISSN 1098-3600, 02/2012, Volume 14, Issue 2, pp. 250 - 258
Purpose: The increased sensitivity of chromosomal microarray (CMA) technology as compared with traditional cytogenetic analysis allows for improved detection... 
uncertainty | health communication | qualitative | comprehension | genetic testing | INTERNET | PROFESSIONALS | SUSCEPTIBILITY | CHILDREN | COPY NUMBER | PERSPECTIVES | GENETICS & HEREDITY | HEALTH-CARE | COMPARATIVE GENOMIC HYBRIDIZATION | CONFRONTING GENETIC-DISEASE | DISABILITIES | Pediatrics | Uncertainty | Genetic Testing - standards | Humans | Data Collection | Genetic Counseling | Genetic Testing - methods | Outpatients | Parents - psychology | Microarray Analysis | Interviews as Topic | Chromosomes, Human | Patient Education as Topic | Index Medicus
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5. Full Text Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification
by Gilbert, Melissa A and Bauer, Robert C and Rajagopalan, Ramakrishnan and Grochowski, Christopher M and Chao, Grace and McEldrew, Deborah and Nassur, James A and Rand, Elizabeth B and Krock, Bryan L and Kamath, Binita M and Krantz, Ian D and Piccoli, David A and Loomes, Kathleen M and Spinner, Nancy B
Human Mutation, ISSN 1059-7794, 07/2019
Index Medicus
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6. Full Text Cytogenetic highlights and transitions
by Spinner, Nancy B
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2016, Volume 172, Issue 2, pp. 87 - 91
Medical cytogenetics, genetic diagnostics, and medical genetics had their origins in the late 1950's, as evaluation of human chromosomes became possible, and... 
AMNIOCENTESIS | HUMAN-CHROMOSOMES | GENETIC-DEFECTS | ABNORMALITIES | SEX | GENETICS & HEREDITY | HYBRIDIZATION | AMNIOTIC-FLUID | ASSOCIATION | PRENATAL-DIAGNOSIS | MOSAICISM | Amniocentesis - trends | History, 20th Century | Humans | Chromosome Disorders - diagnosis | Cytogenetics | Prenatal Diagnosis - methods | Genetic Testing - methods | Analysis | DNA microarrays | Amniocentesis | Prenatal diagnosis | Abnormalities | Careers | Genetics | Chromosomes | Index Medicus
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7. Full Text Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations
: Prenatal DNA sequencing: clinical and 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
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8. 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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9. Full Text Mosaicism and clinical genetics
: AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)
by Spinner, Nancy B and Conlin, Laura K
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2014, Volume 166, Issue 4, pp. 397 - 405
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10. Full Text 34. Genome-wide mosaicism, chimerism, and contamination: Recognizing and interpreting genotyping patterns from SNP arrays
by Conlin, Laura K and Luo, Minjie and Weckselblatt, Brooke and Rafferty, Kelly A and Kalish, Jennifer and Zackai, Elaine H and Dulik, Matthew A and Spinner, Nancy B
Cancer Genetics, ISSN 2210-7762, 10/2018, Volume 226-227, pp. 49 - 49
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11. Full Text Identification of Novel Exon and Transcript of EHMTI Improves Kleefstra Syndrome Diagnosis and Highlights Limitations of Our Current Knowledge of the Human Genome
by Spinner, Nancy B
Human Mutation, ISSN 1059-7794, 07/2011, Volume 32, Issue 7, pp. v - v
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12. Full Text Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
by Green, Robert C and Green, Robert and Goddard, Katrina and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura M and Amendola, Laura and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Barbara B and Biesecker, Leslie G and Biswas, Sawona and Blout, Carrie L and Bowling, Kevin M and Brothers, Kyle B and Burke, Wylie and Caga-anan, Charlisse F and Chinnaiyan, Arul M and Chung, Wendy K and Chung, Wendy and Clayton, Ellen and Clayton, Ellen W and Cooper, Greg M and Cooper, Gregory M and East, Kelly and East, Kelly M and Evans, James P and Evans, Barbara and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, David E and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle and Lewis, Katie and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steve and Joffe, Steven and Kaufman, Dave and Kaufman, David and Knoppers, Bartha and Knoppers, Bartha M and Koenig, Barbara A and Krantz, Ian and Krantz, Ian D and Manolio, Teri A and McCullough, Laurence and McEwen, Jean and McGuire, Amy and Muzny, Donna and Myers, Richard M and Nickerson, Deborah A and Ou, Jeffrey and Parsons, Will and Parsons, Donald W and Petersen, Gloria and Petersen, Gloria M and Plon, Sharon and Plon, Sharon E and Rehm, Heidi L and Roberts, Scott and Roberts, J. Scott and Robinson, Marguerite E and Robinson, Jill O and Robinson, Dan and Salama, Joseph and Salama, Joseph S and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Shirts, Brian H and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Ben and Wilfond, Benjamin S and Wilhelmsen, Kirk C and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Brown, Brian L and Burt, Amber A and Byers, Peter H and Calikoglu, Muge G and ... and CSER Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1051 - 1066
Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and... 
RESEARCH PARTICIPANTS | ACMG RECOMMENDATIONS | PERCEIVED UTILITY | BEHAVIORAL ECONOMICS | GENETICS & HEREDITY | WHOLE-EXOME | INCIDENTAL-FINDINGS | MEDSEQ PROJECT | OBTAINING INFORMED-CONSENT | ELECTRONIC HEALTH RECORD | GENETIC RESEARCH FINDINGS | Evidence-Based Practice | United States | Humans | Clinical Trials as Topic | Cardiovascular Diseases - genetics | Exome - genetics | National Human Genome Research Institute (U.S.) | Polymorphism, Single Nucleotide - genetics | Adult | Biomedical Research | Population Groups | Software | Genome, Human | Genomics - methods | High-Throughput Nucleotide Sequencing - methods | Child | Genetic research | Nucleotide sequencing | Methods | DNA sequencing | Medical diagnosis | Electronic health records | Genomics | Genes | Children & youth | Index Medicus
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13. Full Text 1. Detection of mosaicism and chimerism using SNP arrays in pediatric clinical testing: 10 year experience
by Conlin, Laura K and Weckselblatt, Brooke and Fan, Jinbo and Zackai, Elaine and Dulik, Matthew C and Spinner, Nancy B and Luo, Minjie
Cancer Genetics, ISSN 2210-7762, 08/2018, Volume 224-225, pp. 51 - 51
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14. Full Text Microduplications of 16p11.2 are associated with schizophrenia
by Walsh, Tom and Gary, Sydney and Sutcliffe, James S and Addington, Anjene M and Chitkara, Nisha and Levy, Deborah L and Cichon, Sven and DeRosse, Pamela and Malhotra, Anil K and Leibenluft, Ellen and Dickel, Diane E and Lee, Yoon-ha and Zackai, Elaine H and Stroup, T Scott and McCarthy, Shane E and Crow, Timothy J and McMahon, Francis J and Lakshmi, B and Christian, Susan L and Malhotra, Dheeraj and McClellan, Jon and Goodell, Meredith and Spinner, Nancy B and Pearl, Justin and Wolff, Jessica and Bhandari, Abhishek and Iakoucheva, Lilia M and Deutsch, Curtis K and Pavon, Kevin and Nöthen, Markus M and Gallagher, Louise and Roccanova, Patricia and Lieberman, Jeffrey A and DeLisi, Lynn E and Puura, Kaija and Skuse, David and Rapoport, Judith and Willour, Virginia L and Kirov, George and Vacic, Vladimir and Makarov, Vladimir and Haldeman-Englert, Chad and Sullivan, Patrick F and Schulze, Thomas G and Craddock, Nick and Kendall, Jude and Perkins, Diana O and Kusenda, Mary and Lehtimäki, Terho and Kassem, Layla and Yoon, Seungtai and Krastoshevsky, Olga and Sebat, Jonathan and Owen, Michael J and Ganesh, Jaya and Gill, Michael and King, Mary-Claire and Steele, Jo and Krause, Verena and Susser, Ezra and Mendell, Nancy R and Leotta, Anthony and Shaikh, Tamim H and Kaplan, Paige and Potash, James B and Krantz, Ian D and Grozeva, Detelina and Lajonchere, Clara M and O'Donovan, Michael C and Kustanovich, Vlad and Rietschel, Marcella and Kumar, Ravinesh A and Wellcome Trust Case Control Consor and Wellcome Trust Case Control Consortium
Nature Genetics, ISSN 1061-4036, 11/2009, Volume 41, Issue 11, pp. 1223 - 1227
Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome 16p11.2 have been implicated in childhood-onset developmental... 
INDIVIDUALS | HUMAN GENOME | DISRUPTION | GENES | GENETICS & HEREDITY | AUTISM SPECTRUM DISORDER | RECURRENT REARRANGEMENTS | 1ST YEAR | DELETIONS | PERVASIVE DEVELOPMENTAL DISORDERS | HEAD CIRCUMFERENCE | Gene Duplication | Genetic Predisposition to Disease | Schizophrenia - genetics | Humans | Risk Factors | Chromosomes, Human, Pair 16 | Usage | DNA microarrays | Gene mutations | Schizophrenia | Genetic aspects | Research | Health aspects | Risk factors | Mental health care | Autism | Mental disorders | Data collection | Grants | Children & youth | Independent sample | Index Medicus
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15. Full Text Copy Number Detection in Exome Sequencing Compared to Chromosomal Microarray in a Clinical Setting
by Rajagopalan, Ramakrishnan and Devkota, Batsal and Jayaraman, Vijayakumar and Biswas, Sawona and Spinner, Nancy B and Krantz, Ian D and Conlin, Laura K
Cancer Genetics, ISSN 2210-7762, 2016, Volume 209, Issue 6, pp. 300 - 300
Hematology, Oncology and Palliative Medicine | Medical Education
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16. Full Text Exome sequencing reveals compound heterozygous mutations inATP8B1in aJAG1/NOTCH2mutation-negative patient with clinically diagnosed Alagille syndrome
by Grochowski, Christopher M and Rajagopalan, Ramakrishnan and Falsey, Alexandra M and Loomes, Kathleen M and Piccoli, David A and Krantz, Ian D and Devoto, Marcella and Spinner, Nancy B
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2015, Volume 167, Issue 4, pp. 891 - 893
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17. Full Text Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum
by Crowley, Moira A and Conlin, Laura K and Zackai, Elaine H and Deardorff, Matthew A and Thiel, Brian D and Spinner, Nancy B
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 05/2010, Volume 152, Issue 5, pp. 1326 - 1327
ARRAY | 15Q14 | DELAY | DEFECT | GENETICS & HEREDITY | DELETION | Chromosome Deletion | Humans | Cleft Palate - embryology | Male | Cleft Palate - genetics | Transcription Factors - genetics | Chromosomes, Human, Pair 15 - genetics | Homeodomain Proteins - genetics | Pregnancy | Polymorphism, Single Nucleotide - genetics | Female | Heart Septum - embryology | Infant, Newborn | Index Medicus
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18. Full Text Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells
by Liu, JL and Zhang, Z and Bando, M and Itoh, T and Deardorff, MA and Clark, D and Kaur, M and Tandy, S and Kondoh, T and Rappaport, E and Spinner, NB and Vega, H and Jackson, LG and Shirahige, K and Krantz, ID
PLOS BIOLOGY, ISSN 1545-7885, 05/2009, Volume 7, Issue 5, pp. e1000119 - e1000119
Cohesin regulates sister chromatid cohesion during the mitotic cell cycle with Nipped-B-Like (NIPBL) facilitating its loading and unloading. In addition to... 
SISTER-CHROMATID COHESION | NIPPED-B | HISTONE MODIFICATION | HUMAN GENOME | PROTEIN CTCF | BIOCHEMISTRY & MOLECULAR BIOLOGY | CHROMOSOME ARMS | BIOLOGY | GENE-EXPRESSION | BINDING SITES | DE-LANGE-SYNDROME | HUMAN HOMOLOG | Proteins - genetics | Chondroitin Sulfate Proteoglycans - genetics | Chromatin Immunoprecipitation | Oligonucleotide Array Sequence Analysis | Gene Expression Regulation | Polymerase Chain Reaction | Cell Cycle Proteins - genetics | Databases, Genetic | Promoter Regions, Genetic - genetics | Chromosomal Proteins, Non-Histone - genetics | De Lange Syndrome - genetics | Index Medicus | Proteins | Genetics | Genomes | Binding sites | Cell cycle
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19. Full Text Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
by Conlin, Laura K and Thiel, Brian D and Bonnemann, Carsten G and Medne, Livija and Ernst, Linda M and Zackai, Elaine H and Deardorff, Matthew A and Krantz, Ian D and Hakonarson, Hakon and Spinner, Nancy B
Human Molecular Genetics, ISSN 0964-6906, 01/2010, Volume 19, Issue 7, pp. 1263 - 1275
Mosaic aneuploidy and uniparental disomy (UPD) arise from mitotic or meiotic events. There are differences between these mechanisms in terms of (i) impact on... 
HOMOZYGOSITY | ANEUPLOIDY | CHROMOSOMAL MOSAICISM | MICROARRAY | ABNORMALITIES | RELEVANCE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | NONDISJUNCTION | TRISOMY-8 MOSAICISM | GENOME | PRENATAL-DIAGNOSIS | Trisomy | Humans | Uniparental Disomy | Aneuploidy | Mosaicism | Meiosis | Polymorphism, Single Nucleotide | Chimerism | Sex Chromosomes | Monosomy | Index Medicus | Mosaics | Recombination | Data processing | Single-nucleotide polymorphism | Embryos | Embryogenesis | genomics | Differentiation | Chromosomes | uniparental disomy
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