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1. Full Text Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
by Wapner, Ronald J and Martin, Christa Lese and Levy, Brynn and Ballif, Blake C and Eng, Christine M and Zachary, Julia M and Savage, Melissa and Platt, Lawrence D and Saltzman, Daniel and Grobman, William A and Klugman, Susan and Scholl, Thomas and Simpson, Joe Leigh and McCall, Kimberly and Aggarwal, Vimla S and Bunke, Brian and Nahum, Odelia and Patel, Ankita and Lamb, Allen N and Thom, Elizabeth A and Beaudet, Arthur L and Ledbetter, David H and Shaffer, Lisa G and Jackson, Laird
The New England Journal of Medicine, ISSN 0028-4793, 12/2012, Volume 367, Issue 23, pp. 2175 - 2184
This large, systematic study of prenatal diagnosis shows that chromosomal microarray analysis provided additional, clinically significant cytogenetic... 
MEDICINE, GENERAL & INTERNAL | COPY-NUMBER VARIANTS | DOWN-SYNDROME | DEVELOPMENTAL-DISABILITIES | COMPARATIVE GENOMIC HYBRIDIZATION | CONGENITAL-ANOMALIES | IDENTIFICATION | REARRANGEMENTS | SNP ARRAY | CLINICAL-SIGNIFICANCE | ARRAY ANALYSIS | Fetal Diseases - diagnosis | Oligonucleotide Array Sequence Analysis | Chromosomes, Human - genetics | Humans | Genetic Testing - methods | Pregnancy | Maternal Age | Ultrasonography, Prenatal | Karyotyping | Chromosome Aberrations | Chromosome Disorders - diagnosis | Adult | Female | Down Syndrome - diagnosis | Prenatal Diagnosis - methods | Karyotype | Usage | DNA microarrays | Prenatal diagnosis | Diagnosis | Research | Comparative analysis | Developmental delay | Health aspects | Methods | Fetuses | Genes | Tissue culture | Prenatal development | Genomes | Medical diagnosis | Autism | Chromosome translocations | Down's syndrome | Ultrasonography | Children | Triploidy | Chromosomes
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2. Full Text Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
by Riggs, Erin R and Nelson, Tristan and Merz, Andrew and Ackley, Todd and Bunke, Brian and Collins, Christin D and Collinson, Morag N and Fan, Yao‐Shan and Goodenberger, McKinsey L and Golden, Denae M and Haglund‐Hazy, Linda and Krgovic, Danijela and Lamb, Allen N and Lewis, Zoe and Li, Guang and Liu, Yajuan and Meck, Jeanne and Neufeld‐Kaiser, Whitney and Runke, Cassandra K and Sanmann, Jennifer N and Stavropoulos, Dimitri J and Strong, Emma and Su, Meng and Tayeh, Marwan K and Kokalj Vokac, Nadja and Thorland, Erik C and Andersen, Erica and Martin, Christa L
Human Mutation, ISSN 1059-7794, 11/2018, Volume 39, Issue 11, pp. 1650 - 1659
Conflict resolution in genomic variant interpretation is a critical step toward improving patient care. Evaluating interpretation discrepancies in copy number... 
ClinGen | dosage sensitivity | ClinVar | CNV discrepancy | variant interpretation | AUTISM | SEQUENCE VARIATION | AMERICAN-COLLEGE | MEDICAL GENETICS | DEVELOPMENTAL-DISABILITIES | HUMAN GENOME | GENETICS & HEREDITY | LABORATORIES | 16P11.2 | DUPLICATION | ASSOCIATION | Databases, Genetic | DNA Copy Number Variations - genetics | Genetic Variation - genetics | Data Curation | Humans | Genome, Human - genetics | Genomics | Gene dosage | Genomes | Laboratories | Copy number | Classification | Haploinsufficiency
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3. Full Text Segmental duplications mediate novel, clinically relevant chromosome rearrangements
by Rudd, M. Katharine and Keene, Julia and Bunke, Brian and Kaminsky, Erin B and Adam, Margaret P and Mulle, Jennifer G and Ledbetter, David H and Martin, Christa L
Human Molecular Genetics, ISSN 0964-6906, 8/2009, Volume 18, Issue 16, pp. 2957 - 2962
Copy number studies have led to an explosion in the discovery of new segmental duplication-mediated deletions and duplications. We have analyzed copy number... 
LINKAGE DISEQUILIBRIUM | MENTAL-RETARDATION | GENE | COPY-NUMBER | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | MICRODELETION SYNDROME | LONG-QT SYNDROME | MUTATIONS | POLYMORPHISM | HUMAN-GENOME | DELETION | Chromosome Deletion | Gene Duplication | Chromosomes, Human, Pair 2 - genetics | Comparative Genomic Hybridization | Humans | Chromosome Aberrations | Genetic Diseases, Inborn - genetics | Male | Gene Dosage | Chromosomes, Human, Pair 7 - genetics | Chromosomes, Human, Pair 17 - genetics
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4. Full Text An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
by Kaminsky, Erin B and Kaul, Vineith and Paschall, Justin and Church, Deanna M and Bunke, Brian and Kunig, Dawn and Moreno-De-Luca, Daniel and Moreno-De-Luca, Andres and Mulle, Jennifer G and Warren, Stephen T and Richard, Gabriele and Compton, John G and Fuller, Amy E and Gliem, Troy J and Huang, Shuwen and Collinson, Morag N and Beal, Sarah J and Ackley, Todd and Pickering, Diane L and Golden, Denae M and Aston, Emily and Whitby, Heidi and Shetty, Shashirekha and Rossi, Michael R and Rudd, M. Katharine and South, Sarah T and Brothman, Arthur R and Sanger, Warren G and Iyer, Ramaswamy K and Crolla, John A and Thorland, Erik C and Aradhya, Swaroop and Ledbetter, David H and Martin, Christa L
Genetics in Medicine, ISSN 1098-3600, 09/2011, Volume 13, Issue 9, pp. 777 - 784
Purpose: Copy number variants have emerged as a major cause of human disease such as autism and intellectual disabilities. Because copy number variants are... 
ID/DD | evidence-based approach | clinical significance | consortium | CNVs | DUPLICATIONS | AUTISM | MENTAL-RETARDATION | MICRODELETION SYNDROME | REARRANGEMENTS | HUMAN GENOME | SOTOS-SYNDROME | PROXIMAL 15Q | GENETICS & HEREDITY | STRUCTURAL VARIATION | ARRAY CGH | Evidence-Based Medicine - methods | Humans | Developmental Disabilities - genetics | Gene Dosage | Cytogenetic Analysis | Genome, Human | DNA Copy Number Variations | Intellectual Disability - genetics
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5. Full Text Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray
by Baldwin, Erin L and Lee, Ji-Yun and Blake, Douglas M and Bunke, Brian P and Alexander, Chad R and Kogan, Amy L and Ledbetter, David H and Martin, Christa L
Genetics in Medicine, ISSN 1098-3600, 06/2008, Volume 10, Issue 6, pp. 415 - 429
Purpose: Array comparative genomic hybridization is rapidly becoming an integral part of cytogenetic diagnostics. We report the design, validation, and... 
Array comparative genomic hybridization | Genome-wide | Copy number variant | Molecular karyotype | Oligonucleotide microarray | MOLECULAR CHARACTERIZATION | MENTAL-RETARDATION | oligonucleotide microarray | MICRODELETION SYNDROME | FISH ANALYSIS | molecular karyotype | HYBRIDIZATION ARRAY-CGH | DEVELOPMENTAL DELAY | COPY-NUMBER VARIATIONS | copy number variant | genome-wide | array comparative genomic hybridization | GENETICS & HEREDITY | SEGMENTAL DUPLICATIONS | CHROMOSOMAL-ABNORMALITIES | DYSMORPHIC FEATURES | Nucleic Acid Hybridization | Chromosome Banding | Telomere - ultrastructure | Oligonucleotide Array Sequence Analysis - methods | Humans | In Situ Hybridization, Fluorescence | Male | Chromosome Mapping | Karyotyping | Cytogenetics - methods | Adult | Female | Models, Genetic | Oligonucleotide Probes - chemistry | Genome, Human
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6. Full Text Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2
by Williams, Eli S and Uhas, Kim A and Bunke, Brian P and Garber, Kathryn B and Martin, Christa L
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2012, Volume 158A, Issue 10, pp. 2616 - 2620
Cleft palate (CP) is a frequent and recognizable birth defect attributed to a variety of etiologies including genetic abnormalities and environmental... 
cleft palate | 20p12.3 | BMP2 | microarray analysis | microdeletion | Microdeletion | Cleft palate | Microarray analysis | NUMBER | OROFACIAL CLEFTS | ALAGILLE SYNDROME | DELETION | PARKINSON-WHITE-SYNDROME | 20P | ROLES | GENETICS & HEREDITY | NEUROGENESIS | BONE | EXPRESSION | Chromosome Deletion | Bone Morphogenetic Protein 2 - genetics | Cleft Palate - pathology | Humans | Child, Preschool | Adult | Family | Female | Male | Aged | Cleft Palate - genetics | Chromosomes, Human, Pair 20 - genetics | Medical colleges | Bone morphogenetic proteins | Genes
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7. Full Text Behavioral Characterization of a White-Throated Sparrow Homozygous for the ZAL2m Chromosomal Rearrangement
by Horton, Brent M and Horton, Brent M and Hu, Yuchen and Hu, Yuchen and Martin, Christa L and Martin, Christa L and Bunke, Brian P and Bunke, Brian P and Matthews, Beth S and Matthews, Beth S and Moore, Ignacio T and Moore, Ignacio T and Thomas, James W and Thomas, James W and Maney, Donna L and Maney, Donna L
Behavior Genetics, ISSN 0001-8244, 1/2013, Volume 43, Issue 1, pp. 60 - 70
The white-throated sparrow is rapidly becoming an important model in the genetics of social behavior because of a chromosomal rearrangement that segregates... 
Public Health | Life history strategies | Aggression | Psychology | Clinical Psychology | Health Psychology | Chromosomal inversion | White-throated sparrow | Alternative phenotypes | Polymorphism
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8. Full Text Behavioral Characterization of a White-Throated Sparrow Homozygous for the ZAL2(m) Chromosomal Rearrangement
by Horton, BM and Hu, YC and Martin, CL and Bunke, BP and Matthews, BS and Moore, IT and Thomas, JW and Maney, DL
BEHAVIOR GENETICS, ISSN 0001-8244, 01/2013, Volume 43, Issue 1, pp. 60 - 70
The white-throated sparrow is rapidly becoming an important model in the genetics of social behavior because of a chromosomal rearrangement that segregates... 
HISTORY TRADE-OFFS | ZONOTRICHIA-ALBICOLLIS GMELIN | Aggression | SEX | Chromosomal inversion | Alternative phenotypes | MORPHS | SOCIAL-BEHAVIOR | PSYCHOLOGY, MULTIDISCIPLINARY | Life history strategies | DOMINANCE | PLUMAGE POLYMORPHISM | GENETICS & HEREDITY | BEHAVIORAL SCIENCES | CROWNED SPARROWS | White-throated sparrow | GENOMIC ARCHITECTURE | BIRDS | Polymorphism | Chromosome Banding | Vocalization, Animal | In Situ Hybridization, Fluorescence | Male | Sparrows - genetics | Polymorphism, Genetic | Behavior, Animal | Chromosomes - ultrastructure | Homozygote | Phenotype | Animals | Social Behavior | Gene Rearrangement | Alleles | Sex Factors | Female
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9. Full Text Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involvingBMP2
by Williams, Eli S and Uhas, Kim A and Bunke, Brian P and Garber, Kathryn B and Martin, Christa L
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2012, Volume 158A, Issue 10, pp. 2616 - 2620
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10. Full Text Behavioral Characterization of a White-Throated Sparrow Homozygous for the ZAL2^sup m^ Chromosomal Rearrangement
by Brent M Horton and Yuchen Hu and Christa L Martin and Brian P Bunke and Beth S Matthews and Ignacio T Moore and James W Thomas and Donna L Maney
Behavior Genetics, ISSN 0001-8244, 01/2013, Volume 43, Issue 1, p. 60
  The white-throated sparrow is rapidly becoming an important model in the genetics of social behavior because of a chromosomal rearrangement that segregates... 
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11. Behavioral Characterization of a White-Throated Sparrow Homozygous for the ZAL2 super(m) Chromosomal Rearrangement
by Horton, Brent M and Hu, Yuchen and Martin, Christa L and Bunke, Brian P and Matthews, Beth S and Moore, Ignacio T and Thomas, James W and Maney, Donna L
Behavior Genetics, ISSN 0001-8244, 01/2013, Volume 43, Issue 1, pp. 60 - 70
The white-throated sparrow is rapidly becoming an important model in the genetics of social behavior because of a chromosomal rearrangement that segregates... 
Homozygotes | Mating | Social behavior | Aggression | chromosome 2 | Sex | Heterozygotes | Models | Plumage | Chromosome rearrangements | Age
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12. Full Text Behavioral Characterization of a White-Throated Sparrow Homozygous for the ZAL2.sup.m Chromosomal Rearrangement
by Horton, Brent M and Hu, Yuchen and Martin, Christa L and Bunke, Brian P and Matthews, Beth S and Moore, Ignacio T and Thomas, James W and Maney, Donna L
Behavior Genetics, ISSN 0001-8244, 01/2013, Volume 43, Issue 1, p. 60
(5) O. Wayne Rollins Research Center, 1510 Clifton Road NE, Room 2006, Mail Stop 1940-001-AC, Atlanta, GA, 30322, USA 
Analysis | Genomics | Birds | Universities and colleges | Chemical properties
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13. Full Text Chromosomal Microarray Versus Karyotyping for Prenatal Diagnosis
by Wapner, Ronald J and Martin, Christa Lese and Levy, Brynn and Ballif, Blake C and Eng, Christine M and Zachary, Julia M and Savage, Melissa and Platt, Lawrence D and Saltzman, Daniel and Grobman, William A and Klugman, Susan and Scholl, Thomas and Simpson, Joe Leigh and McCall, Kimberly and Aggarwal, Vimla S and Bunke, Brian and Nahum, Odelia and Patel, Ankita and Lamb, Allen N and Thom, Elizabeth A and Beaudet, Arthur L and Ledbetter, David H and Shaffer, Lisa G and Jackson, Laird
Obstetrical & Gynecological Survey, ISSN 0029-7828, 04/2013, Volume 68, Issue 4, pp. 276 - 278
Array-based molecular cytogenetic techniques have improved the detection of small genomic deletions and duplications not seen on karyotyping. These copy-number... 
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14. Full Text An evidence-based approach to establish the functional and clinical significance of CNVs in intellectual and developmental disabilities
by Kaminsky, Erin B and Kaul, Vineith and Paschall, Justin and Church, Deanna M and Bunke, Brian and Kunig, Dawn and Moreno-De-Luca, Daniel and Moreno-De-Luca, Andres and Mulle, Jennifer G and Warren, Stephen T and Richard, Gabriele and Compton, John G and Fuller, Amy E and Gliem, Troy J and Huang, Shuwen and Collinson, Morag N and Beal, Sarah J and Ackley, Todd and Pickering, Diane L and Golden, Denae M and Aston, Emily and Whitby, Heidi and Shetty, Shashirekha and Rossi, Michael R and Rudd, M. Katharine and South, Sarah T and Brothman, Arthur R and Sanger, Warren G and Iyer, Ramaswamy K and Crolla, John A and Thorland, Erik C and Aradhya, Swaroop and Ledbetter, David H and Martin, Christa L
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 9/2011, Volume 13, Issue 9, pp. 777 - 784
evidence-based approach | clinical significance | consortium | CNVs
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15. Full Text AN IMPROVED GLOMERULAR-FILTRATION RATE IN CARDIAC TRANSPLANT RECIPIENTS WITH ONCE-A-DAY CYCLOSPORINE DOSING
by BUNKE, M and SLOAN, R and BRIER, M and GANZEL, B
TRANSPLANTATION, ISSN 0041-1337, 02/1995, Volume 59, Issue 4, pp. 537 - 540
We tested the hypothesis that there would be a difference in the unwanted side effects of cyclosporine (CsA) when heart transplant patients received CsA once a... 
SURGERY | ACUTE REJECTION | THERAPY | ADVERSE IMPACT | CREATININE | RENAL-TRANSPLANTATION | IMMUNOLOGY | HYPERTENSION | TRANSPLANTATION | Kidney - blood supply | Drug Administration Schedule | Graft Rejection - prevention & control | Humans | Heart Transplantation | Creatinine - urine | Regional Blood Flow | Glomerular Filtration Rate - drug effects | Lipids - blood | Cyclosporine - administration & dosage | Inulin - administration & dosage | Blood Pressure - drug effects | Kidney - physiopathology
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16. Full Text An improved glomerular filtration rate in cardiac transplant recipients with once-a-day cyclosporine dosing
by Bunke, M and Bunke, Martin and Sloan, R and Sloan, Rebecca and Brier, Michael and Brier, M and Ganzel, Brian and Ganzel, B
Transplantation, ISSN 0041-1337, 02/1995, Volume 59, Issue 4, pp. 537 - 540
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17. Full Text AN IMPROVED GLOMERULAR FILTRATION RATE IN CARDIAC TRANSPLANT RECIPIENTS WITH ONCE-A-DAY CYCLOSPORINE DOSING1,2
by Bunke, Martin and Sloan, Rebecca and Brier, Michael and Ganzel, Brian
Transplantation, ISSN 0041-1337, 02/1995, Volume 59, Issue 4, pp. 537 - 540
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18. Full Text AN IMPROVED GLOMERULAR FILTRATION RATE IN CARDIAC TRANSPLANT RECIPIENTS WITH ONCE-A-DAY CYCLOSPORINE DOSING1,2
by Bunke, Martin and Sloan, Rebecca and Brier, Michael and Ganzel, Brian
Transplantation, ISSN 0041-1337, 02/1995, Volume 59, Issue 4, pp. 537 - 540
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19. Damascene copper integration issues in SiCOH dielectric
by Stamper, Anthony K and Barthold, Gasner and Bunke, Christine and Chinthakindi, Anil and Cooney III, Edward and Garcia, Eduardo and He, Zhong-Xiang and Jackson, Frank and Kaldor, Steffen and Kelly, Ryan and Leach, Debra and Lindgren, Peter and McDevitt, Thomas and Milmore, Timothy and Moon, Matthew and Pfeifer, Brian and Pluchino, Christopher and Porth, Bruce and Premsagar, Michael and Randall, Mai and Snavely, Colleen and Suwarno-Handayana, Aurelia and Tiersch, Matthew and Winslow, Arthur and Zwonik, Robert
Advanced Metallization Conference (AMC), ISSN 1540-1766, 2006, Volume 2006, pp. 53 - 59
Conference Proceeding
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20. Full Text The effect of a positive B cell crossmatch on early rejection in cardiac transplant recipients
by Bunke, Martin and Bunke, M and Ganzel, Brian and Ganzel, B and Klein, Jon B and Klein, J.B and Oldfather, J and Oldfather, John
Transplantation, ISSN 0041-1337, 1993, Volume 56, Issue 6, pp. 1595 - 1597
Muromonab-CD3 - therapeutic use | Heart Transplantation - immunology | Histocompatibility Testing | Immunosuppression - methods | Graft Rejection - prevention & control | Humans | Middle Aged | Heart Transplantation - adverse effects | Graft Rejection - etiology | Male | B-Lymphocytes - immunology | Time Factors | Adult | Female | T-Lymphocytes - immunology | Graft Rejection - immunology
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