Alphabetic Listing of Presenting Authors: K


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PRESENTER'S NAME Partial
Abstract Title
Session Assignment Program# Session Dates
&
Locations
Presentation Time
Kİraz, Aslihan Myotonia congenita with a novel missense ... POSTER
Mendelian Phenotypes
1010T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kaiwar, Charu Complexities of mitochondrial gene testing. ... POSTER
Molecular and Cytogenetic Diagnostics
2509W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kajula, Outi Prostate cancer risk follow-up among ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
551T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kalaskar, Vijay K. Custom capture high-throughput sequencing ... POSTER
Developmental Genetics and Gene Function
1760T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kalia, Namarta Genetic typing of DC-SIGN in recurrent ... POSTER
Complex Traits and Polygenic Disorders
2249T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kalita, Cynthia A novel computational and experimental ... POSTER
Epigenetics and Gene Regulation
1682T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kalkan, Rasime In silico analysis and identification of ... POSTER
Mendelian Phenotypes
1086F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kallberg, Morten Reducing reference bias in whole-genome ... POSTER
Bioinformatics and Computational Approaches
1263F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kals, Mart The landscape of genetic variation in ... POSTER
Evolution and Population Genetics
2334F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kamakari, Smaragda First systematic molecular analysis of 45 ... POSTER
Mendelian Phenotypes
1109T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kan, Shih-Hsin Evaluation of intracerebroventricular ... POSTER
Mendelian Phenotypes
860T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kaname, Tadashi Novel pathogenic variants of EP300 in two ... POSTER
Mendelian Phenotypes
1123W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kanchan, Kanika Genomic and structural integrity of human ... POSTER
Genome Structure and Function
429F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kang, Benjamin E. Epigenetic modulation in the pathogenesis ... POSTER
Cardiovascular Phenotypes
2744T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kang, Hio Chung Improving variant classification by ... POSTER
Cancer Genetics
601W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kang, Hyun M. Statistical methods and computational ... PLATFORM
Session #99. Big Data Approaches in Support of Population Studies
344 Saturday, October 21
Room 230C, Level 2
10:30 am
Kang, Minji The association of haploinsufficiency of ... POSTER
Developmental Genetics and Gene Function
1790T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kang, Moonil A genome-wide gene by cigarette smoking ... POSTER
Cardiovascular Phenotypes
2671W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kao, Charlly Applying synthetic long reads to a custom ... POSTER
Molecular and Cytogenetic Diagnostics
2417T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kapalanga, Joachim J.B. Analysis of the genetics and heritability ... POSTER
Complex Traits and Polygenic Disorders
2089W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kaplanis, Joanna Mutational origins and pathogenic ... PLATFORM
Session #9. Genome Structure and Function: The Contribution of Mutations to Human Genetic Diversity, Disease, and Evolution
24 Wednesday, October 18
Room 230G, Level 2
9:15 am
Kaplun, Alex A clinically validated whole genome ... POSTER
Bioinformatics and Computational Approaches
1408W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Kapoor, Suman Functional integration of genomic and ... POSTER
Cancer Genetics
785T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Karaca, Ender AOH-mediated recessive mutation burden can ... POSTER
Mendelian Phenotypes
955W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Karczewski, Konrad J. The spectrum of loss of function ... PLATFORM
Session #21. Leveraging Human Knockouts to Understand Biology
95 Wednesday, October 18
Room 320, Level 3
11:00 am
Karimi, Kambiz Evaluation of QIAGEN Clinical Insight as a ... POSTER
Cancer Genetics
602T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Karjalainen, Minna Slit2-Robo1 signaling may play a role in ... POSTER
Complex Traits and Polygenic Disorders
2221W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Karlsson, Torgny New genetic variants unveiled using a ... POSTER
Cardiovascular Phenotypes
2712F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Karolak, Justyna A. Identification of rare sequence variants ... POSTER
Complex Traits and Polygenic Disorders
2169F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Karuna, Pradhipa Identification of potential LREA regions ... POSTER
Cancer Genetics
771F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kaseniit, Kristjan E. What’s in a VUS rate? Simulated VUS ... POSTER
Molecular and Cytogenetic Diagnostics
2409F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kasper, Edwige Genotoxic chemotherapies and radiotherapy ... POSTER
Cancer Genetics
603F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kassler, Daniel L. Estimating genetic correlations in ... POSTER
Statistical Genetics and Genetic Epidemiology
3001W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kastury, Rama D. BICD2-related arthrogryposis with ... POSTER
Mendelian Phenotypes
962T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kasuga, Saki A novel IDS gene mutation in two Japanese ... POSTER
Genome Structure and Function
375F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Katayama, Toshiaki Semantic web technology accelerates ... POSTER
Bioinformatics and Computational Approaches
1300W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Katsanis, Sara H. The missing and the vulnerable: Developing ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
561F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kattimani, Yogita Mallu Selective activation of caspase family of ... POSTER
Complex Traits and Polygenic Disorders
2073F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kauffman, Tia L. Actions and reactions to negative results ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
547W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kaur, Jasdeep Genetic polymorphism and gene-environment ... POSTER
Complex Traits and Polygenic Disorders
2090T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kaur, Manpreet Association study of ENPP1 (K121Q), TCF7L2 ... POSTER
Complex Traits and Polygenic Disorders
1820T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kaur, Raminderjit Association of SELP variants and soluble ... POSTER
Cardiovascular Phenotypes
2721F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kaur, Tarnjeet Genetic screening of Galectin-3 CRD ... POSTER
Complex Traits and Polygenic Disorders
1894W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Kawano, Shin Integrated search for multi-omics data ... POSTER
Cancer Genetics
760W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Kawashima, Minae NELFCD and CTSZ loci are associated with ... POSTER
Complex Traits and Polygenic Disorders
1950F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kay, Denise M. Pilot study of population-based newborn ... PLATFORM
Session #38. Neuromuscular Disease
171 Thursday, October 19
Room 220B, Level 2
12:00 pm
Kedar, Inbal M. Results of BRCA1/2 testing in 1339 high ... POSTER
Cancer Genetics
668T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Keena, Beth A. Robinow syndrome in an infant with ... POSTER
Mendelian Phenotypes
1150W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Keinan, Alon The X-factor of complex disease: ... POSTER
Complex Traits and Polygenic Disorders
1878F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kellis, Manolis High-resolution dissection of regulatory ... PLATFORM
Session #35. High Throughput Functional Analysis of Enhancers and Variants
149 Thursday, October 19
Room 320, Level 3
9:00 am
Kelly, Derek Elias Dissecting regulatory mechanisms altering ... POSTER
Epigenetics and Gene Regulation
1585W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kelly, Ellen M. NHGRI Sample Repository for Human Genetic ... POSTER
Evolution and Population Genetics
2345T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kelly, Rachel Sabine A systems biology approach to the ... POSTER
Omics Technologies
1488F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kelly, Rebecca R. Single exon resolution copy number ... POSTER
Molecular and Cytogenetic Diagnostics
2556F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kember, Rachel L. Polygenic risk scores identify novel ... PLATFORM
Session #44. Polygenic Risk Scores and Genetic Correlation in Complex Disease
203 Thursday, October 19
Room 320, Level 3
11:00 am
Keng, Wee Teik Kagami Ogata Syndrome caused by a 14q32 ... POSTER
Molecular and Cytogenetic Diagnostics
2516T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kennedy, Elizabeth An integrated -omics analysis of the ... POSTER
Epigenetics and Gene Regulation
1672W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Kennedy, Martin A. DNA banking and genetic analysis of ... POSTER
Complex Traits and Polygenic Disorders
2123T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kentistou, Katherine A. Socioeconomic deprivation amplifies ... POSTER
Statistical Genetics and Genetic Epidemiology
2780T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kermani, Bahram G. Whole genome sequencing signatures for ... POSTER
Cancer Genetics
763W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kerminen, Sini Geographic distribution of polygenic risk ... POSTER
Cardiovascular Phenotypes
2718F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kerschbamer, Emanuela Haploinsufficiency models of CHD8 in ... POSTER
Epigenetics and Gene Regulation
1589T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kertsz, Renata HES1 gene screening in a cohort of ... POSTER
Mendelian Phenotypes
889W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kesserwan, Chimene Incorporation of tumor RNA expression data ... PLATFORM
Session #40. Defining High Risk in Cancer
181 Thursday, October 19
Room 230C, Level 2
11:30 am
Keys, Kevin L. Predictive modeling of gene expression in ... POSTER
Complex Traits and Polygenic Disorders
2262F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Khalaf, Amira N. Rare syndrome: First reported Egyptian ... POSTER
Mendelian Phenotypes
1142T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Khammad, Vasilii Molecular mechanisms underlying serrated ... POSTER
Cancer Genetics
816F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Khan, Kamal Rare GREB1L mutations contribute to the ... PLATFORM
Session #89. Modelling Candidate Disease Variants in Cellular and Animal Models
302 Saturday, October 21
Room 220F, Level 2
8:45 am
Khan, Shaheen Exome sequencing reveals novel compound ... POSTER
Mendelian Phenotypes
876F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Khan, Tahir N. Mutations in the condensin II component ... POSTER
Mendelian Phenotypes
1162W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Khattar, Divya Report of phenotypic variability of ... POSTER
Mendelian Phenotypes
1030W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Khimsuriya, Yashvant M. Genotype-phenotype study of OPHN1 and ... POSTER
Statistical Genetics and Genetic Epidemiology
2857W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Khor, Seik-Soon Evaluation of NXTypeTM NGS high-resolution ... POSTER
Omics Technologies
1517T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Khramtsova, Ekaterina A. Sex-stratified analysis of ... POSTER
Complex Traits and Polygenic Disorders
2132T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kibriya, Muhammad G. Exome-wide copy number association study ... POSTER
Genome Structure and Function
380T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kichaev, Gleb Leveraging polygenic functional enrichment ... POSTER
Statistical Genetics and Genetic Epidemiology
2966T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kikuchi, Atsuo Novel biallelic mutations in the PNPT1 ... POSTER
Mendelian Phenotypes
1074F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kilzer, Jennifer M. Ion AmpliSeq™ TERT promoter ... POSTER
Cancer Genetics
800T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kim, April Genoppi: A web application for interactive ... POSTER
Bioinformatics and Computational Approaches
1396W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Kim, Bong-Jo Integrative analysis of genome, epigenome ... POSTER
Omics Technologies
1462W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Kim, Bum-Jun RERE is required for normal eye ... PLATFORM
Session #67. Ocular Development and Disease
265 Friday, October 20
Room 230C, Level 2
10:15 am
Kim, Cecilia E. Gender transcriptome signatures for ... POSTER
Cardiovascular Phenotypes
2745F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kim, Chang-uk Discovering rare variants and deciphering ... POSTER
Evolution and Population Genetics
2310F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kim, Chong A. Cri du Chat syndrome: Characteristics of ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
531F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kim, Dae Library-free, targeted sequencing of ... POSTER
Molecular and Cytogenetic Diagnostics
2413W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kim, Daeyoon Methodologies for FMS-like tyrosine kinase ... POSTER
Cancer Genetics
717F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kim, Eunae DNA methylation changes as an exposure ... POSTER
Epigenetics and Gene Regulation
1673T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kim, Eunji FOLD: A method to optimize power in ... POSTER
Statistical Genetics and Genetic Epidemiology
2854W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Kim, Helen Differential expression of immunoglobulin ... POSTER
Epigenetics and Gene Regulation
1626F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kim, Hyerim Genetic modifiers modulating the age of ... POSTER
Complex Traits and Polygenic Disorders
2059W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kim, Hyungsuk RNA-seq analysis after moderate blast ... POSTER
Complex Traits and Polygenic Disorders
2036T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kim, Jae-Jung A genome-wide association analysis ... POSTER
Complex Traits and Polygenic Disorders
1925T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kim, Jaemin Whole genome sequence reveals selection ... POSTER
Cardiovascular Phenotypes
2722W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Kim, Jaewon Genomic analysis of PDX sequencing data. POSTER
Cancer Genetics
718W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Kim, Jeong-Hyun Association study of R3HDM1 variants with ... POSTER
Statistical Genetics and Genetic Epidemiology
2804T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kim, Jihye Cross-exposure multivariate interaction ... POSTER
Cardiovascular Phenotypes
2700F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kim, Jong Hun A whole exome study of Alzheimer’s ... POSTER
Complex Traits and Polygenic Disorders
2009T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kim, Jung Similar frequency of ACMG-59 gene ... POSTER
Cancer Genetics
711F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kim, Kicheol Transcriptomic analysis of CD4+, CD8+, and ... PLATFORM
Session #73. Transcriptomic Analysis of Genetic Variation and Disease
292 Friday, October 20
Room 330C, Level 3
11:00 am
Kim, Kunhee Genomic multilateration. POSTER
Bioinformatics and Computational Approaches
1313T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kim, Manjin Mutation spectrum of the KCNQ1, KCNH2, and ... POSTER
Cardiovascular Phenotypes
2624T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kim, Songmi Differential DNA methylation aspect of ... POSTER
Cancer Genetics
817W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kim, Tae-Eun Association between TNF-α G-308A ... POSTER
Complex Traits and Polygenic Disorders
2149W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kim, Young Jin Genome-wide scan using Korea Biobank Array ... POSTER
Complex Traits and Polygenic Disorders
1833F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kim, Young Mi The clinical application of chromosomal ... POSTER
Molecular and Cytogenetic Diagnostics
2496F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kim-Hellmuth, Sarah Genome-wide analysis of transcriptional ... PLATFORM
Session #95. Host-pathogen Interactions in the Genetics of the Immune System
326 Saturday, October 21
Room 330A, Level 3
8:45 am
Kimonis, Virginia Perinatal features and genotype-phenotype ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
457W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kimura, Masahiro Comparison of chitinolytic activities ... POSTER
Genome Structure and Function
404T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kimura, Ryo An epigenome-wide association study of ... POSTER
Epigenetics and Gene Regulation
1620F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
King, Jennifer R. Prenatal diagnosis of Roberts syndrome ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
465F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kingsmore, Stephen F. A randomized controlled trial of rapid ... POSTER
Molecular and Cytogenetic Diagnostics
2596W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Kinman, Josh Spike-in controls designed for detecting ... POSTER
Omics Technologies
1498W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Kinnamon, Daniel D. Toward genetics-driven early intervention ... POSTER
Cardiovascular Phenotypes
2610F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kinnear, Craig J. PIDDGEN: A multi-disciplinary team ... POSTER
Mendelian Phenotypes
873F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kirsten, Holger Stratified comparison and network analysis ... POSTER
Epigenetics and Gene Regulation
1654W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Kirwin, Susan M. TRPV4 alternative splicing transcripts in ... POSTER
Mendelian Phenotypes
900F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Klarin, Derek Genetic analysis of lipids in >300,000 ... POSTER
Complex Traits and Polygenic Disorders
1869F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Klein, Marieke Identification of ADHD risk genes in ... POSTER
Complex Traits and Polygenic Disorders
2111T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kleinman, Aaron Human knockouts in the Ashkenazi Jewish ... POSTER
Statistical Genetics and Genetic Epidemiology
2946F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Knight Johnson, Amy E. Exome sequencing in 170 patients with ... POSTER
Molecular and Cytogenetic Diagnostics
2452W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Knisbacher, Binyamin A. Integrating networks and comparative ... POSTER
Bioinformatics and Computational Approaches
1264W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Knowles, David A. Predicting splicing directly from sequence ... PLATFORM
Session #96. Investigating the Role of Non-coding Variants in Disease
329 Saturday, October 21
Room 330C, Level 3
8:30 am
Ko, Arthur Human liver transcriptomes reveal ... POSTER
Complex Traits and Polygenic Disorders
1876W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Kodama, Yuichi Controlled-access databases for genetic ... POSTER
Bioinformatics and Computational Approaches
1301T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kodavali, Venkata C. The 5-HTTLPR polymorphism does not ... POSTER
Epigenetics and Gene Regulation
1664T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Koelling, Nils Detecting variation maintained by balance ... POSTER
Evolution and Population Genetics
2284W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Koganti, Tejaswi Limits of indel detection using CLC ... POSTER
Bioinformatics and Computational Approaches
1265T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Koh, Hyunwook A highly adaptive microbiome-based ... POSTER
Statistical Genetics and Genetic Epidemiology
2987T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kohda, Masakazu Identification of homozygous deletions ... POSTER
Bioinformatics and Computational Approaches
1245F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kohler, Jennefer N. Characterizing the rare X-linked dominant ... POSTER
Mendelian Phenotypes
964W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Kohlmann, Wendy Educational and support needs of Lynch ... POSTER
Genetic Counseling, ELSI, Education, and Health Services Research
501F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kohram, Mojtaba VIVA: A collaboration tool for processing, ... POSTER
Bioinformatics and Computational Approaches
1428F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kohut, Kelly E. FLCN gene pathogenic variants in ... POSTER
Cancer Genetics
604W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Kojima, Kaname Comparison of short tandem repeat ... POSTER
Bioinformatics and Computational Approaches
1266F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Komaki, Shohei iMETHYL: An integrative database of whole ... POSTER
Omics Technologies
1535T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kommu, Naga Mohan Stem cell models for studying the role of ... POSTER
Developmental Genetics and Gene Function
1744W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Komurcu-Bayrak, Evrim The effects of missense mutations causing ... POSTER
Cardiovascular Phenotypes
2741T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kong, Ha Eun Identification of genetic modifiers of ... PLATFORM
Session #30. Repeats and Rearrangements: New Methods, Genes, and Mechanisms in Neurological Disease
121 Thursday, October 19
Room 220F, Level 2
9:30 am
Kooy, Frank Clinical presentation and ... POSTER
Mendelian Phenotypes
965T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Korenberg, Julie R. Rare family with partial duplication in ... POSTER
Developmental Genetics and Gene Function
1747W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Koroglu, Cigdem Whole-genome sequencing to identify risk ... POSTER
Complex Traits and Polygenic Disorders
2091F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kosaka, Kengo Heterozygous missense variant in TDRKH ... POSTER
Mendelian Phenotypes
984F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kosaki, Rika Siblings with Perralut syndrome and LARS2 ... POSTER
Mendelian Phenotypes
1102W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Kosheleva, Katya Validation of a novel copy number variant ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
445W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kosho, Tomoki Spinal manifestations of patients with ... POSTER
Mendelian Phenotypes
917T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kosmicki, Jack Meta-analysis of de novo variants from ... POSTER
Statistical Genetics and Genetic Epidemiology
2844F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kote-Jarai, Zsofia Rare DNA repair gene mutations predispose ... POSTER
Cancer Genetics
624F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kotlar, Alex Rapid whole-genome annotation and search ... POSTER
Bioinformatics and Computational Approaches
1360W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Koudová, Monika CarrierTest: The first experience with ... POSTER
Prenatal, Perinatal, and Reproductive Genetics
498F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kouga, Takeshi Intracellular mislocalization of mutant ... POSTER
Developmental Genetics and Gene Function
1723W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kousi, Maria The genetic architecture of Bardet Biedl ... POSTER
Mendelian Phenotypes
1170F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kovesdi, Erzsebet Novel TSC1/TSC2 pathogenic variants in ... POSTER
Mendelian Phenotypes
993F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kozhanova, Tatyana Clinical management of patients with GLUT1 ... POSTER
Mendelian Phenotypes
970W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Krebs, Catharine Elizabeth The transcriptional consequences of ... POSTER
Complex Traits and Polygenic Disorders
2133F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Krempely, Kate Beyond the NMD boundary: Characterizing ... POSTER
Cancer Genetics
597F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Krishna Murthy, Sarath Babu Exome sequence analysis identifies novel ... POSTER
Complex Traits and Polygenic Disorders
2047W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Krishnan, Keerthana Highly efficient transcriptome profiling ... POSTER
Omics Technologies
1514T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kristiansson, Kati Significance of secondary genetic findings ... POSTER
Cancer Genetics
688W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Krusche, Peter A graph method for population genotyping ... POSTER
Bioinformatics and Computational Approaches
1267W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Krushkal, Julia The effect of expression of glycosylation ... POSTER
Cancer Genetics
818T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kruszka, Paul Stephen Congenital heart malformations in ... PLATFORM
Session #59. Congenital and Pediatric Heart Diseases
234 Friday, October 20
Room 230G, Level 2
9:15 am
Kuchenbaecker, Karoline B. Genome-wide association analysis in the UK ... POSTER
Statistical Genetics and Genetic Epidemiology
2786T Thursday, Oct. 19
Exhibit Hall, Level 1
3:00pm-4:00pm
Kucinskas, Vaidutis Novel RS1 gene mutations of X-linked ... POSTER
Mendelian Phenotypes
1110F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kuksa, Pavel P. DASHR 2.0: Database of small non-coding ... POSTER
Bioinformatics and Computational Approaches
1302F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kukshal, Prachi Rare heterozygous mutation in glutamate ... POSTER
Complex Traits and Polygenic Disorders
2134W Wednesday, Oct. 18
Exhibit Hall, Level 1
3:00pm-4:00pm
Kumar, Malika Quantifying the shared genetic components ... PLATFORM
Session #44. Polygenic Risk Scores and Genetic Correlation in Complex Disease
208 Thursday, October 19
Room 320, Level 3
12:15 pm
Kumar, Pankaj A dinucleotide deletion in a putative ... POSTER
Complex Traits and Polygenic Disorders
1851F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kumar, Satish Parkinson’s disease gene ... PLATFORM
Session #34. Genetic Architecture of Neurological Traits
145 Thursday, October 19
Room 310C, Level 3
9:30 am
Kumar, Vikrant Association analysis of rheumatoid ... POSTER
Complex Traits and Polygenic Disorders
1933W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kunkle, Brian Whole-exome sequencing identifies ... PLATFORM
Session #70. Context Matters: Genes, Environment, and Sex (Part 2)
280 Friday, October 20
Room 310C, Level 3
11:00 am
Kuraisa, Roy High-performance whole genome sequence ... POSTER
Bioinformatics and Computational Approaches
1361T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kurihara, Laurie Single cell methylomes: A method to assess ... POSTER
Epigenetics and Gene Regulation
1641F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kurilshikov, Alexander Systematic analysis of association of ... PLATFORM
Session #33. Microbiome, Variation, and Disease
140 Thursday, October 19
Room 310A, Level 3
9:45 am
Kurki, Mitja I. Alzheimer’s disease exome sequencing ... POSTER
Complex Traits and Polygenic Disorders
2010F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kuroda, Yukiko Familial TAPVR with 15q11.2 (BP1-BP2) ... POSTER
Cardiovascular Phenotypes
2611W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kurolap, Alina From genetics to therapy: CD55 loss of ... POSTER
Mendelian Phenotypes
894F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
Kurosawa, Kenji Microdeletion of 17q21.31 causes a novel ... POSTER
Mendelian Phenotypes
1117W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kurtas, Nehir Constitutive supernumerary marker ... POSTER
Molecular and Cytogenetic Diagnostics
2519T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kury, Sebastien De novo mutations in protein kinase genes ... PLATFORM
Session #23. Neurodevelopmental Disorders: Causes and Mechanisms
111 Wednesday, October 18
Room 330C, Level 3
12:00 pm
Kwak, Hojoong Genetic analysis of enhancer RNA (eRNA) ... PLATFORM
Session #93. Identification and Function of Enhancers
317 Saturday, October 21
Room 310C, Level 3
8:30 am
Kwak, Soo Heon Whole exome sequencing and exome array ... POSTER
Complex Traits and Polygenic Disorders
1805T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm
Kwee, Lydia C. Exome sequencing identifies multiple ... POSTER
Cardiovascular Phenotypes
2667F Friday, Oct. 20
Exhibit Hall, Level 1
11:30am-12:30pm
Kwok, Pui-Yan Single-molecule mapping of complex genomic ... PLATFORM
Session #9. Genome Structure and Function: The Contribution of Mutations to Human Genetic Diversity, Disease, and Evolution
26 Wednesday, October 18
Room 230G, Level 2
9:45 am
Kwon, Young-Chang Male-specific association of the FCGR2A ... POSTER
Complex Traits and Polygenic Disorders
1945W Wednesday, Oct. 18
Exhibit Hall, Level 1
2:00pm-3:00pm
Kwong, Alan M. Grouped association analysis for very rare ... POSTER
Statistical Genetics and Genetic Epidemiology
2868F Friday, Oct. 20
Exhibit Hall, Level 1
12:30pm-1:30pm
König, Eva-Maria Novel pathogenic variants in ... POSTER
Molecular and Cytogenetic Diagnostics
2447T Thursday, Oct. 19
Exhibit Hall, Level 1
2:00pm-3:00pm