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American Society of Human Genetics - San Diego - October 18-22, 2014 Contact Search
 

 

If you have any questions or comments then please email the ASHG Meeting Department ashgmeetings@ashg.org.


 

Poster Authors: The letters S, M, or T indicate the day (i.e., Sunday, Monday, or Tuesday) on which authors present their work. Posters remain on the boards for all three days. Please remember to review the poster presentation guidelines before you prepare your poster.

 

Platform/Plenary Authors: Please remember to review the speaker presentation guidelines before you prepare your slides.


PRESENTER'S NAME Partial
Abstract Title
Session Assignment Program# Session Dates
&
Locations
Presentation Time
Kaartokallio, Tea Exome sequencing in pooled DNA samples ... POSTER
Complex Traits and Polygenic Disorders
808S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Kahrizi, Kimia Phenotype of 21 novel autosomal recessive ... POSTER
Molecular Basis of Mendelian Disorders
3075T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kamakari, Smaragda Mutation spectrum of the ABCA4 Gene in ... POSTER
Molecular Basis of Mendelian Disorders
3128M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kamath, Nutan Novel SLC29A3 mutation causing H Syndrome ... POSTER
Molecular Basis of Mendelian Disorders
2986S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Kambouris, Marios A Mutation in MYO1A Causes Autosomal ... POSTER
Molecular Basis of Mendelian Disorders
2894M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
kameli, reyhaneh Association of Cytochrome P450 2C9 ... POSTER
Cardiovascular Genetics
2076M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kamitaki, Nolan M.K. Mapping of novel regulatory influences on ... POSTER
Statistical Genetics and Genetic Epidemiology
1754T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kammin, Tammy Balanced Chromosome Rearrangements Rapidly ... PLATFORM
Session #56. Balanced and Unbalanced Chromosomal Rearrangements
305 Tuesday, October 21
Room 28, Upper Level
11:00 am
Kan, Shih-Hsin Choroid plexus-directed gene therapy using ... POSTER
Therapy for Genetic Disorders
2195S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kaname, Tadashi A case of low frequent somatic and/or ... POSTER
Clinical Genetics and Dysmorphology
2682M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kaneko, Yasuhiko Parental Inheritance and WT1 Abnormality ... POSTER
Cancer Genetics
3277T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kang, Eun Yong A novel meta-analysis approach for ... POSTER
Statistical Genetics and Genetic Epidemiology
1753M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kang, Hyun M. Likelihood-based filtering of indels and ... POSTER
Bioinformatics and Genomic Technology
1594M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kao, Charlly Optimization of a High-Throughput, ... POSTER
Genome structure, variation and function
606T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kapalanga, Joachim X-Chromosomal genetic and epigenetic ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1137T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kaper, Fiona Detection of copy number variation in ... POSTER
Cytogenetics
3178T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kaphingst, Kimberly What do younger breast cancer patients ... POSTER
Ethical, Legal, Social and Policy Issues in Genetics
2359T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kaplanis, Joanna Dissecting the Genetic Architecture of ... POSTER
Statistical Genetics and Genetic Epidemiology
1837M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kapoor, Ashish Quantification of Hirschsprung disease ... POSTER
Complex Traits and Polygenic Disorders
1030S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Kar, Bibhas Clinical and molecular cytogenetic ... POSTER
Cytogenetics
3213T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Karaca, Emin Cytogenetic abnormalities of 50 AML ... POSTER
Cancer Genetics
3459M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
KARACA, Ender Genomic Sequencing Approaches Identifies ... PLATFORM
Session #17. New Genes, Incidental Findings and Unexpected Observations Revealed by Exome Sequencing
45 Sunday, October 19
Room 20BC, Upper Level
1:30 pm
Karczewski, Konrad J. The Human Knockout Project: systematic ... PLENARY
Session #22. Plenary Abstracts Featured Presentation II
85 Monday, October 20
Hall B1, Ground Level
8:00 am
Kariuki, Silvia N. Mapping variation in response to vitamin D ... POSTER
Complex Traits and Polygenic Disorders
983M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Karlin-Neumann, George A. Droplet Digital PCR: A new tool for ... POSTER
Bioinformatics and Genomic Technology
1670T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Karlsson, Elinor Cholera resistance in Bangladesh: ... PLATFORM
Session #12. Patterns and Determinants of Genetic Variation: Recombination, Mutation, and Selection
11 Sunday, October 19
Hall B1, Ground Level
3:00 pm
Kashimura, Akinori Enzymatic properties of the catalytic ... POSTER
Complex Traits and Polygenic Disorders
884M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kattman, Brandi L. NIH Genetic Testing Registry (GTR): A data ... POSTER
Bioinformatics and Genomic Technology
1523T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Katz, Alexander Elevated risk of abnormal arterial ... POSTER
Cardiovascular Genetics
2157S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kauffman, Tia L. Validation of a taxonomy of genetic ... POSTER
Prenatal, Perinatal and Reproductive Genetics
2795S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kaufman, David J. Data Sharing and dbGaP: A Survey of ... PLATFORM
Session #43. ELSI Issues in Genetics
215 Monday, October 20
Room 20D, Upper Level
4:45 pm
Kaufman, Jay A Comprehensive Bioinformatics and Data ... POSTER
Bioinformatics and Genomic Technology
1679T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
kaur, Amandeep MTHFR and CBS: A risk factor for Down ... POSTER
Molecular Basis of Mendelian Disorders
3118S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Kaur, Anupam IL-10 Promoter polymorphism (592C/A) in ... POSTER
Prenatal, Perinatal and Reproductive Genetics
2800S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Kaur, Harjit A comparison of anthropometric status, ... POSTER
Health Services Research
2416S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Kaur, Manpreet Genetic Structure of North-Indian Punjabi ... POSTER
Evolutionary and Population Genetics
2006M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kaur, Navdeep Association analysis of PPARG (p.Pro12Ala) ... POSTER
Complex Traits and Polygenic Disorders
1015S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kaur, Tarnjeet Assessment of LGALS3 genetic variants ... POSTER
Complex Traits and Polygenic Disorders
877S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kaustio, Meri Kyllikki Homozygous loss of DIAPH1 causes a rare, ... POSTER
Molecular Basis of Mendelian Disorders
2999M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kavasoglu, Ayşe Nur A further case of Hajdu-Cheney syndrome ... POSTER
Clinical Genetics and Dysmorphology
2683T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kawai, Yosuke Demographic inference of human population ... POSTER
Evolutionary and Population Genetics
2007S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kay, Chris Complete Huntingtin Haplotypes for ... POSTER
Therapy for Genetic Disorders
2208M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kayoko, Tao Utilization of Bioluminescence Resonance ... POSTER
Cancer Genetics
3403T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Keating, Brendan J. Application of Serum miRNA Signature for ... POSTER
Clinical Genetic Testing
2510S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Keaton, Jacob M. Assessment of Common and Rare Variants at ... POSTER
Complex Traits and Polygenic Disorders
839M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Keen, Judy An integrated platform for the collection ... POSTER
Genome structure, variation and function
677M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Keene, Keith L. Genome-wide DNA methylation analyses ... POSTER
Epigenetics
414T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kehdy, Fernanda The Brazilian EPIGEN Initiative: ... POSTER
Evolutionary and Population Genetics
1905S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kehr, Birte Detecting novel sequence insertions in ... PLATFORM
Session #16. Variant Calling: What Makes the Difference?
38 Sunday, October 19
Room 20A, Upper Level
1:45 pm
Kehrer-Sawatzki, Hildegard SVA retrotransposon insertion-associated ... POSTER
Genome structure, variation and function
607S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kekis, Mariana A case of probable constitutional trisomy ... POSTER
Cytogenetics
3209T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kellis, Manolis Integration of 111 reference human ... PLATFORM
Session #46. Epigenomics of Normal Populations and Disease States
239 Monday, October 20
Room 30, Upper Level
4:45 pm
Kennedy, Amy Transferrin receptor and hereditary ... POSTER
Complex Traits and Polygenic Disorders
1028M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kennemer, Michael Next-generation sequencing reveals the ... POSTER
Bioinformatics and Genomic Technology
1431S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kenny, Eimear Inferring patterns of demography and ... POSTER
Evolutionary and Population Genetics
1906M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kent, Jack W. Polygenic and Localized Genotype by ... POSTER
Complex Traits and Polygenic Disorders
1037M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kenyon, Carly NIPT in a Clinical Setting: Patient ... POSTER
Prenatal, Perinatal and Reproductive Genetics
2839S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kerr, Iain D. Performance of in silico sequence ... POSTER
Clinical Genetic Testing
2440T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Keyser, Matthew A Next-Gen Sequencing Software Workflow ... POSTER
Bioinformatics and Genomic Technology
1569S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
khajuria, ragini Molecular Characterisation of known & ... POSTER
Metabolic Disorders
2239T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Khalifa, Mohamed Female with a Complex Phenotype Associated ... POSTER
Clinical Genetics and Dysmorphology
2722T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Khan, Nahid Effective treatment of mitochondrial ... PLATFORM
Session #63. Therapy for Genetic Disorders
366 Tuesday, October 21
Room 20A, Upper Level
6:15 pm
Khan, Shaheen A Combined Exome sequencing and RNA-Seq ... POSTER
Molecular Basis of Mendelian Disorders
2956S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Khan, Wahab A. Reversing differences in chromatin ... POSTER
Cytogenetics
3162T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Khawajkie, Yassemine Dissecting the genetic susceptibility to ... POSTER
Genetics/Genomics Education
2312S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Kheradpour, Pouya Characterization of enhancer gene ... POSTER
Genome structure, variation and function
529S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Khoja, Hamid Active organic solvent-free paraffin ... POSTER
Clinical Genetic Testing
2426S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Khor, Seik-Soon High-accuracy imputation for HLA class I ... POSTER
Bioinformatics and Genomic Technology
1489M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Khromykh, Alina Complex Genomic Presentation in the NICU. POSTER
Clinical Genetics and Dysmorphology
2739M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Khurana, Ekta Functional interpretation of noncoding ... POSTER
Bioinformatics and Genomic Technology
1637T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kichaev, Gleb Integrating functional data to prioritize ... POSTER
Complex Traits and Polygenic Disorders
868S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Kido, Tatsuo Aberrant activation of the sex-determining ... POSTER
Development
3134S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Kilpeläinen, Tuomas O. Genome-wide gene-physical activity ... POSTER
Complex Traits and Polygenic Disorders
1044T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kim, Bernard Y. Selection and reduced population size ... POSTER
Evolutionary and Population Genetics
1983S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kim, Bo-Hye Comparing of GWAS data for the personality ... POSTER
Complex Traits and Polygenic Disorders
984T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kim, Bong-Jo Genome-wide association study of copy ... POSTER
Genome structure, variation and function
608M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kim, Bum-Jun Haploinsufficiency of RERE contributes to ... POSTER
Development
3142S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Kim, Cecilia Pathway Based Genome-Wide Association ... POSTER
Complex Traits and Polygenic Disorders
954T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kim, Chong A. Menkes disease: the importance of precise ... POSTER
Metabolic Disorders
2231T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kim, David H. Targeting Calpains: A Therapeutic Strategy ... PLATFORM
Session #63. Therapy for Genetic Disorders
359 Tuesday, October 21
Room 20A, Upper Level
4:30 pm
Kim, Goo-Young Glycogen storage disease type Ia mice ... POSTER
Therapy for Genetic Disorders
2196M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kim, Gu-Hwan Novel mutations and clinical outcomes of ... POSTER
Clinical Genetics and Dysmorphology
2749T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kim, Hie Lim Khoisan hunter-gatherers have been the ... POSTER
Evolutionary and Population Genetics
1991S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kim, Hyeri Performance evaluation of inherited ... POSTER
Clinical Genetic Testing
2538M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kim, Hyungsuk Sports Related Concussions Induce DNA ... POSTER
Epigenetics
413M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
KIM, HYUNJIN Micoarray approach reveals the ... POSTER
Epigenetics
445M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kim, Jeong-Hyun Association study of COL11A2 with aspirin ... POSTER
Genome structure, variation and function
674M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kim, JiHong LNCScore: a machine-learning approach for ... POSTER
Bioinformatics and Genomic Technology
1490T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kim, Jung-Wook Alteration of conserved alternative ... POSTER
Molecular Basis of Mendelian Disorders
3114T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kim, Kwoneel Somatic and genetic variations in ... POSTER
Epigenetics
491M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kim, Kyung Won Genome-wide association study (GWAS) of ... POSTER
Complex Traits and Polygenic Disorders
985S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kim, Sarah Characterizing the genetic basis of innate ... POSTER
Genome structure, variation and function
647M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kim, Sung Noninvasive detection of a balanced fetal ... POSTER
Prenatal, Perinatal and Reproductive Genetics
2854S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Kim, Sung-Hou Genomic susceptibility for cancer ... POSTER
Bioinformatics and Genomic Technology
1438M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kim, SY. Quantification of the placental epigenetic ... POSTER
Epigenetics
446T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kim, Taehyun Chromosome Therapy: Correction of Large ... POSTER
Cytogenetics
3223T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kim, Yeun A (2;12)(p12;p13) translocation in a Down ... POSTER
Cytogenetics
3193T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kim, Yoo-Mi Unexpected manifestations of Gaucher ... POSTER
Metabolic Disorders
2246M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kim, Yoonjung Therapy-related Acute Myeloid Leukemia ... POSTER
Cancer Genetics
3388T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kim, Youngho LOX, among the LOX family proteins, plays ... POSTER
Molecular Basis of Mendelian Disorders
3099T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kim-Howard, Xana Assessing genetic association between ... POSTER
Complex Traits and Polygenic Disorders
823S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kimmel, Stephen E. The Implementing Genomics in Practice ... POSTER
Clinical Genetic Testing
2566T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kimonis, Virginia E. Comprehensive clinical characterization of ... POSTER
Clinical Genetics and Dysmorphology
2689T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kingsmore, Stephen F. Pediatric neurodevelopmental disabilities ... POSTER
Clinical Genetic Testing
2577M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kinrich, Alana M. Newborn screening and the incidences of ... POSTER
Metabolic Disorders
2272M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kirkpatrick, Brianne E. Genetic Test Recipient as a Source of ... POSTER
Health Services Research
2415S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kirtas, Emrecan A case with mild phenotype of ... POSTER
Clinical Genetics and Dysmorphology
2649M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kizys, Marina M.L. Preliminary analysis of 14 Brazilian ... POSTER
Molecular Basis of Mendelian Disorders
2957M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Klambauer, Günter Detection of Copy Number Variations in ... POSTER
Bioinformatics and Genomic Technology
1584S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Klar, Joakim Candidate gene association study of ... POSTER
Complex Traits and Polygenic Disorders
875M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Klimentidis, Yann C. Association of physical activity with ... POSTER
Complex Traits and Polygenic Disorders
1045S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Klovins, Janis Polymorphism in MEN-1 gene is associated ... POSTER
Complex Traits and Polygenic Disorders
824M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kmoch, Stan Functional Characterization of Renin ... POSTER
Molecular Basis of Mendelian Disorders
3013S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Knight, Jo The application of personalized medicine ... POSTER
Pharmacogenetics
686M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Knight, Stacey The Familiality of Extreme Lipid Values. POSTER
Cardiovascular Genetics
2166M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Knight Johnson, Amy Expanding the phenotypic spectrum of ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1330S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Knoppers, Bartha M. Whole genome sequencing in newborn ... POSTER
Ethical, Legal, Social and Policy Issues in Genetics
2351T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Knowles, David A. Detecting gene-by-environment interactions ... POSTER
Genome structure, variation and function
521M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Ko, Arthur Context-specific eQTLs implicate ... PLATFORM
Session #39. Cardiovascular Genetics II: Genetic Discovery and Characterization
183 Monday, October 20
Room 6CF, Upper Level
4:45 pm
Ko, Eun kyung Nelf affects GnRH migration and secretion ... POSTER
Prenatal, Perinatal and Reproductive Genetics
2813S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Koboldt, Daniel C. Germline sequencing for genetic markers of ... PLATFORM
Session #15. Prostate Cancer: Expression Informing Risk
32 Sunday, October 19
Room 6DE, Upper Level
2:15 pm
Kocarnik, Jonathan D. Abundant pleiotropy complicates the return ... POSTER
Ethical, Legal, Social and Policy Issues in Genetics
2352M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Koch, Evan Evaluating the impact of recent human ... POSTER
Evolutionary and Population Genetics
1961S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kodera, Hirofumi Mutations in COG2 Encoding a Subunit of ... POSTER
Molecular Basis of Mendelian Disorders
2939M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kodira, Chinnappa D. In situ genome-wide expression profiling ... PLATFORM
Session #59. We Have the Technology: Next-Generation Genomic Methods
333 Tuesday, October 21
Hall B1, Ground Level
6:00 pm
Koduru, Prasad R K Specific Gene Expression Profiles of ... POSTER
Cancer Genetics
3337T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Koenig, Barbara A. Returning incidental findings to family ... POSTER
Ethical, Legal, Social and Policy Issues in Genetics
2360M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
KOHDA, Masakazu A comprehensive genomic analysis for ... POSTER
Molecular Basis of Mendelian Disorders
2983S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Koike, Asako Update and expansion of Human Variation ... POSTER
Bioinformatics and Genomic Technology
1638S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Kojima, Kaname A Statistical Approach that Simultaneously ... POSTER
Bioinformatics and Genomic Technology
1454T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kolicheski, Ana A Homozygous PIGN Missense Mutation in ... POSTER
Molecular Basis of Mendelian Disorders
3066T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kondkar, Altaf A. Increased relative mitochondrial DNA ... POSTER
Genome structure, variation and function
585T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kong, Xiangyin Integrative analysis reveals enhanced ... POSTER
Epigenetics
509M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kong, Xiaomu Transethnic replication of the gene-gene ... POSTER
Cardiovascular Genetics
2053S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Konkel, Miriam K. Discovery of a novel retrotransposon ... PLATFORM
Session #53. The Dynamic Genome: Structural and Somatic Variation
286 Tuesday, October 21
Room 20A, Upper Level
12:15 pm
Konvicka, Karel Kragle: a new local de novo assembler and ... POSTER
Bioinformatics and Genomic Technology
1455S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kooy, Frank The transcriptional regulator ADNP links ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1338T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kopajtich, Robert Decipher Mitochondrial Disorders using ... PLATFORM
Session #34. Metabolic Disorders: New Diagnostics and Pathogenic Insights
143 Monday, October 20
Room 28, Upper Level
10:45 am
Koparır, Erkan Whole exome sequencing identified a RP2 ... POSTER
Clinical Genetic Testing
2578T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
koparir, asuman Whole-exome sequencing as a diagnostic ... POSTER
Molecular Basis of Mendelian Disorders
2958T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Korenberg, Julie R. Wiring the Brain in Down Syndrome: Unique ... POSTER
Clinical Genetics and Dysmorphology
2621S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Korlach, Jonas Resolving the 'Dark Matter' in Human ... POSTER
Bioinformatics and Genomic Technology
1622T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Korvatska, Elena Microglia deficiency in TREM2 R47H ... POSTER
Complex Traits and Polygenic Disorders
907S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kosaki, Kenjiro Recurrent hydrocephalus by POMT2 mutation ... POSTER
Clinical Genetic Testing
2423S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Koshimizu, Eriko Deep sequencing detects very low-grade ... POSTER
Clinical Genetics and Dysmorphology
2740T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kosho, Tomoki Inta-nasal DDAVP administration for the ... POSTER
Therapy for Genetic Disorders
2170M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Koskenvuo, Juha W. Targeted oligonucleotide-selective ... POSTER
Cardiovascular Genetics
2129S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kosmicki, Jack Meta Analysis of Case/Control Autism Exome ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1204S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Kosuga, Motomichi Effects of pre-symptomatic initiation of ... POSTER
Metabolic Disorders
2279T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kote-Jarai, Zsofia Fine-mapping of 67 prostate cancer GWAS ... POSTER
Cancer Genetics
3249M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kottyan, Leah C. Genetic variant at ETS1 locus increases ... POSTER
Complex Traits and Polygenic Disorders
856S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Kousa, Youssef A. A conserved role for IRF6 in neurulation. POSTER
Development
3137S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kousi, Maria Activating mutations in STIM1 and ORAI1 ... POSTER
Genome structure, variation and function
670S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Kraja, Aldi T. Genetic predictive modeling of diabetes ... POSTER
Bioinformatics and Genomic Technology
1660M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kremer, Laura S. Expanding the toolbox for the diagnosis of ... POSTER
Metabolic Disorders
2234M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kretzschmar, Warren Winfried A genotype likelihood based phasing and ... PLATFORM
Session #35. Looking between the Streetlamps: Variant Phasing and Imputation
150 Monday, October 20
Room 29, Upper Level
10:30 am
Kriebel, Jennifer Whole-blood DNA methylation patterns and ... POSTER
Epigenetics
417M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kriek, Marjolein “Hey Doc, here is my DNA sequence, ... POSTER
Genetics/Genomics Education
2305S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kripke, Daniel F. Ancestral haplotypes of BHLHE40 in ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1150S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Krjutskov, Kaarel Woman endometrium biopsy immediate ... POSTER
Bioinformatics and Genomic Technology
1700T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kroisel, Peter M. Application of array painting and next ... POSTER
Molecular Basis of Mendelian Disorders
3056M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kruczek, Przemyslaw Understanding the role of EYS by ... POSTER
Molecular Basis of Mendelian Disorders
3036T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kruisselbrink, Teresa M. The Effect of Disclosing Coronary Heart ... POSTER
Genetic Counseling
2385S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kruszka, Paul Stephen Autosomal Dominant Opitz GBBB Syndrome. POSTER
Clinical Genetics and Dysmorphology
2731T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kryukov, Kirill High resolution HLA genotyping software ... POSTER
Bioinformatics and Genomic Technology
1599S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Ku, Yuan-Chieh Decoding ancient Bulgarian DNA with ... POSTER
Evolutionary and Population Genetics
2008M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kuang, Shao-Qing Mutations in FOXE3/Foxe3 Cause Familial ... PLATFORM
Session #31. Cardiovascular Genetics I: Single Gene Stories
122 Monday, October 20
Room 20A, Upper Level
11:30 am
Kuchikata, Tomu Clinical features of 5p13 duplication ... POSTER
Clinical Genetics and Dysmorphology
2611T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kukurba, Kimberly Uncovering expression variability and ... POSTER
Genome structure, variation and function
652S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Kullo, Iftikhar J. Association of rare variants in LDLR, ... POSTER
Cardiovascular Genetics
2130M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kulzer, Jennifer R. T2D-associated ARAP1 regulates GTPase ... PLATFORM
Session #18. Type 2 Diabetes Genetics
60 Sunday, October 19
Room 20D, Upper Level
3:15 pm
Kumar, Ashok Glutathione-S-transferase gene ... POSTER
Molecular Basis of Mendelian Disorders
3062M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kumar, Pankaj MicroDNA (Extra Chromosomal Circular DNA) ... POSTER
Cancer Genetics
3396M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kumar, Raman TITLE: Familial aggregation of blood ... POSTER
Statistical Genetics and Genetic Epidemiology
1849M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kumar, Satish MicroRNA profiling of human ... POSTER
Genome structure, variation and function
537T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kumar, Somesh Genetic Polymorphism Of Hsp-70 & Tp-53 ... POSTER
Prenatal, Perinatal and Reproductive Genetics
2804S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
5:00pm-6:00pm
Kumar, Vanita To study the association of -106 C/T ... POSTER
Complex Traits and Polygenic Disorders
1016M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kumar, Vikrant Targeted resequencing of CFH-CFHR genes ... POSTER
Complex Traits and Polygenic Disorders
825T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kumari, Priyanka Genetic heterogeneity in Van der Woude ... POSTER
Clinical Genetics and Dysmorphology
2695T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kumasaka, Natsuhiko Combining allele-specific and population ... POSTER
Statistical Genetics and Genetic Epidemiology
1881S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kundu, Kunal Pipeline and Varant annotation tool for ... POSTER
Bioinformatics and Genomic Technology
1456M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kunkle, Brian Whole-exome sequencing of multiplex ... POSTER
Psychiatric Genetics, Neurogenetics and Neurodegeneration
1236T Tuesday, Oct. 21
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kural, Deniz Using a Pan-Genome Reference for Sequence ... POSTER
Bioinformatics and Genomic Technology
1384M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kurihara, Laurie A new method for low-input, PCR-free NGS ... POSTER
Bioinformatics and Genomic Technology
1623S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kuroda, Yukiko Novel gene mutation in Schimmelpenning ... POSTER
Clinical Genetics and Dysmorphology
2693S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
kushmakar, shweta Molecular Genetic Studies in Indian ... POSTER
Genetics/Genomics Education
2329S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kvikstad, Erika M. A cost-effective screen for identifying ... PLATFORM
Session #19. Genomic Methods in Clinical Practice
63 Sunday, October 19
Room 28, Upper Level
2:00 pm
Kvitek, Daniel J. MLPAseq: Assaying genomic copy number ... POSTER
Clinical Genetic Testing
2508M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm
Kwan, Johnny A fast and accurate p-value imputation ... POSTER
Statistical Genetics and Genetic Epidemiology
1773S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kwasniewska, Alexandra C. Improved Exclusion Amplification Chemistry ... POSTER
Bioinformatics and Genomic Technology
1689S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kwee, Lydia C. Methylation levels in peripheral blood may ... POSTER
Epigenetics
447M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
2:00pm-3:00pm
Kwitek, Anne E. A sequence-based pharmacogenomic (PGx) ... POSTER
Pharmacogenetics
721S Sunday, Oct. 19
Convention Center, Exhibit Hall, Ground Level
4:00pm-5:00pm
Kwong, Alan M. Whole-Genome Sequencing Study of ~6,000 ... PLATFORM
Session #66. A Clear Vision for Genetic Eye Diseases
385 Tuesday, October 21
Room 28, Upper Level
5:00 pm
Kyle, Stephanie M. Metabolic regulation by the MeCP2/HDAC3 ... PLATFORM
Session #63. Therapy for Genetic Disorders
360 Tuesday, October 21
Room 20A, Upper Level
4:45 pm
Kyöstilä, Kaisa Identification of a novel ... POSTER
Molecular Basis of Mendelian Disorders
3068M Monday, Oct. 20
Convention Center, Exhibit Hall, Ground Level
3:00pm-4:00pm

 

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