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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 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
Genomic technologies, including next-generation sequencing (NGS) and single-nucleotide polymorphism (SNP) microarrays, have provided unprecedented... 
COPY-NUMBER-VARIATION | BECKWITH-WIEDEMANN-SYNDROME | MCCUNE-ALBRIGHT SYNDROME | CHROMOSOMAL MOSAICISM | GENETICS & HEREDITY | MONOZYGOTIC TWINS DISCORDANT | UNIPARENTAL DISOMY | OSTEOGENESIS IMPERFECTA | DETECTABLE CLONAL MOSAICISM | NEUROFIBROMATOSIS TYPE-1 | ACTIVATING MUTATIONS | 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
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3. Full Text Notch signaling in human development and disease
by Penton, Andrea L and Leonard, Laura D and Spinner, Nancy B
Seminars in Cell and Developmental Biology, ISSN 1084-9521, 06/2012, Volume 23, Issue 4, pp. 450 - 457
► Mutations in Notch signaling genes cause several human developmental disorders. ► Liver, heart, skeleton, kidney and vascular systems are significantly... 
Spondylocostal dysostosis | Hajdu Cheney | Alagille syndrome | Notch signaling | Cardiac disease | BILE-DUCT PROLIFERATION | ARTERIOHEPATIC DYSPLASIA | DEVELOPMENTAL BIOLOGY | LUNATIC-FRINGE | CARDIAC DEVELOPMENT | MISSENSE MUTATIONS | CELL BIOLOGY | CAUSES SPONDYLOCOSTAL DYSOSTOSIS | ABNORMAL VERTEBRAL SEGMENTATION | ALAGILLE-SYNDROME | GENE | AXIAL SKELETAL DEFECTS | Abnormalities, Multiple - metabolism | Heart Diseases - metabolism | Signal Transduction | Membrane Proteins - genetics | Receptors, Notch - metabolism | Humans | Intercellular Signaling Peptides and Proteins - genetics | Alagille Syndrome - metabolism | Hernia, Diaphragmatic - genetics | Receptors, Notch - physiology | Receptors, Notch - genetics | Hajdu-Cheney Syndrome - metabolism | Hajdu-Cheney Syndrome - genetics | Heart Defects, Congenital - genetics | Alagille Syndrome - genetics | Animals | Serrate-Jagged Proteins | Heart Defects, Congenital - metabolism | Mutation | Abnormalities, Multiple - genetics | Heart Diseases - genetics | Hernia, Diaphragmatic - metabolism | Calcium-Binding Proteins - genetics | Jagged-1 Protein
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4. 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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5. 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 | Medical colleges | Care and treatment | Genetic disorders | Pregnant women | Analysis | Research | Health aspects | Deoxyribonucleic acid--DNA
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6. Full Text Jagged1 (JAG1): Structure, expression, and disease associations
by Grochowski, Christopher M and Loomes, Kathleen M and Spinner, Nancy B
Gene, ISSN 0378-1119, 01/2016, Volume 576, Issue 1, pp. 381 - 384
Jagged1 (JAG1) is one of the 5 cell surface ligands that functions primarily in the highly conserved Notch signaling pathway. Notch signaling plays a critical... 
Tetralogy of Fallot | Developmental disorder | Jagged1 | Notch signaling | Alagille syndrome | DEFECTS | PROLIFERATION | HEART | TETRALOGY | ALAGILLE-SYNDROME | GENE | GENETICS & HEREDITY | NOTCH SIGNALING PATHWAY | MICE | MUTATIONS | LIGAND | Alagille Syndrome - genetics | Genetic Predisposition to Disease | Pulmonary Valve Stenosis - genetics | Neoplasms - genetics | Membrane Proteins - genetics | Serrate-Jagged Proteins | Humans | Intercellular Signaling Peptides and Proteins - genetics | Tetralogy of Fallot - genetics | Calcium-Binding Proteins - genetics | Gene Knockdown Techniques | Jagged-1 Protein | Genetic research | Alagille Syndrome
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7. 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
The American Journal of Human Genetics, ISSN 0002-9297, 07/2015, Volume 97, Issue 1, pp. 6 - 21
In 1995, the American Society of Human Genetics (ASHG) and American College of Medical Genetics and Genomics (ACMG) jointly published a statement on genetic... 
INCIDENTAL FINDINGS | REPRODUCTIVE BENEFIT | GENETICS & HEREDITY | DEVELOPMENTAL-DISABILITIES | CYSTIC-FIBROSIS | HEALTH | TAY-SACHS-DISEASE | CARRIER STATUS | CARE | PRENATAL-DIAGNOSIS | SCREENING-PROGRAM | Laws, regulations and rules | Youth | Teenagers | Children | Management | Health aspects | Genetic screening | Ethical aspects | Medical ethics
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8. 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 | Mosaics | Recombination | Data processing | Single-nucleotide polymorphism | Embryos | Embryogenesis | genomics | Differentiation | Chromosomes | uniparental disomy
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9. 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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10. 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 and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för genetik och patologi and Uppsala universitet
The American Journal of Human Genetics, ISSN 0002-9297, 05/2010, Volume 86, Issue 5, pp. 749 - 764
Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID),... 
IDIOPATHIC MENTAL-RETARDATION | CYTOGENETIC SURVEY | 17Q21.31 MICRODELETION SYNDROME | LOW-LEVEL MOSAICISM | GENETICS & HEREDITY | COMPARATIVE GENOMIC HYBRIDIZATION | COPY-NUMBER VARIATIONS | DYSMORPHIC FEATURES | STRUCTURAL VARIATION | ARRAY-BASED TECHNOLOGY | OLIGONUCLEOTIDE MICROARRAY | 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 | Medical and Health Sciences | MEDICINE | Medicin och hälsovetenskap | MEDICIN
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11. 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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12. Full Text “Set in Stone” or “Ray of Hope”: Parents’ Beliefs About Cause and Prognosis After Genomic Testing of Children Diagnosed with ASD
by Reiff, Marian and Bugos, Eva and Giarelli, Ellen and Bernhardt, Barbara A and Spinner, Nancy B and Sankar, Pamela L and Mulchandani, Surabhi
Journal of Autism and Developmental Disorders, ISSN 0162-3257, 5/2017, Volume 47, Issue 5, pp. 1453 - 1463
Despite increasing utilization of chromosomal microarray analysis (CMA) for autism spectrum disorders (ASD), limited information exists about how results... 
Autism spectrum disorders | Pediatrics | Child and School Psychology | Neurosciences | Public Health | Causation beliefs | Psychology | Parental expectations | Chromosomal microarray analysis | Genomic testing | Genetic determinism
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13. 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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14. Full Text NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway
by McDaniell, Ryan and Warthen, Daniel M and Sanchez-Lara, Pedro A and Pai, Athma and Krantz, Ian D and Piccoli, David A and Spinner, Nancy B
The American Journal of Human Genetics, ISSN 0002-9297, 2006, Volume 79, Issue 1, pp. 169 - 173
Alagille syndrome (AGS) is caused by mutations in the gene for the Notch signaling pathway ligand Jagged1 ( ), which are found in 94% of patients. To identify... 
HEART | DEFECTS | GENE | ARTERIOHEPATIC DYSPLASIA | GENETICS & HEREDITY | RECEPTOR | LIGAND | EXPRESSION | HUMAN JAGGED1 | Alagille Syndrome - genetics | Signal Transduction | Pedigree | Humans | Receptor, Notch2 - metabolism | Female | Male | Receptor, Notch2 - genetics | Mutation | Genetic aspects | Diagnosis | Research | Gene mutations | Alagille syndrome | Report
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15. Full Text A challenging case of focal extrahepatic duct obstruction/hypoplasia in alagille syndrome
by Lin, Henry and Zoll, Bryan and Russo, Pierre and Spinner, Nancy B and Loomes, Kathleen M
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 2017, Volume 64, Issue 1, pp. e18 - e22
Alagille Syndrome - genetics | Liver - pathology | Alagille Syndrome - diagnosis | Humans | Fatal Outcome | Cholangiography - methods | Male | Mutation, Missense | Bile Ducts, Extrahepatic - abnormalities | Infant, Newborn | Jagged-1 Protein - genetics
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