Venue
American Society of Human Genetics 2017
Orange County Convention Center
South Building
9800-9899 International Dr.
Orlando, FL 32819
Dates
Oct. 18 to Oct. 20
Booth
709
Title |
Author |
Type / Session # |
Date / Time / Location |
|
| 1 | A clinical survey of human disease genes in which mosaic variants cause genetic disorders | Tokita, et al. | PLATFORM // Session 12 Detection and Impact of Mosaicism in Human Disease |
Oct. 18 9:30am – 9:45am Level 3, Room 320 |
| 2 | Evolutionarily young LINE elements initiate recurrent DNA breaks forming different sized CNVs via both NAHR and microhomologymediated DNA replication mechanisms | Szafranski, et al. | PLATFORM // Session 9 Genome Structure and Function: The Contribution of Mutations to Human Genetic Diversity, Disease, and Evolution |
Oct. 18 10:00am – 10:15am Level 2, Room 230G |
| 3 | Contribution of novel disease gene discovery to clinical diagnosis and management | Posey, et al. | PLATFORM // Session 10 Disease Gene Discovery Strategies |
Oct. 18 10:15am – 10:30am Level 3, Room 310A |
| 4 | Integrated analysis of metabolomics and exome sequencing data | Alaimo, et al. | PLATFORM // Session 18 Strategies for Variant Interpretation |
Oct. 18 11:00am – 11:15am Level 2, Room 230G |
| 5 | Non-invasive prenatal screening for fetal single gene disorders for pregnancies with abnormal ultrasound findings or advanced paternal age | Li, J., et al. | PLATFORM // Session 20 Reproductive Genetics: Detection, Treatment, and Natural History of Errors |
Oct. 18 11:30am – 11:45am Level 3, Room 310C |
| 6 | Cell-based noninvasive prenatal testing enables detection of benign and pathogenic copy number variants at much higher sensitivity than cell-free NIPT methods | Vossaert, et al. | PLATFORM // Session 20 Reproductive Genetics: Detection, Treatment, and Natural History of Errors |
Oct. 18 11:45am – 12:00pm Level 3, Room 310C |
| 7 | Guidelines for phenylbutyrate drug levels in the management of urea cycle disorders | Jiang, Yi, et al. | Poster // 1039 Mendelian Phenotypes |
Oct. 18 2:00pm – 3:00pm Exhibit Hall |
| 8 | Diagnosing connective tissue disorders by clinical exome sequencing | Cheng, H., et al. | Poster // 2449 Molecular and Cytogenetic Diagnostics |
Oct. 18 2:00pm – 3:00pm Exhibit Hall |
| 9 | RMND1-related mitochondrial disease: Phenotypic delineation of four patients including renal manifestations | Le, et al. | Poster // 1075 Mendelian Phenotypes |
Oct. 18 2:00pm – 3:00pm Exhibit Hall |
| 10 | Gain of function germline mutations in ABL1 are associated with congenital heart defects, skeletal malformations, and failure to thrive | Yang, et al. | Poster // 919 (Reviewer’s Choice) Mendelian Phenotypes |
Oct. 18 2:00pm – 3:00pm Exhibit Hall |
| 11 | The utility of exome sequencing in prenatal diagnosis | Normand, et al. | Poster // 460 Prenatal, Perinatal, and Reproductive Genetics |
Oct. 18 3:00pm – 4:00pm Exhibit Hall |
| 12 | Defects in cohesin components STAG1 and STAG2 expand the locus heterogeneity of “cohesinopathies” | Yuan, et al. | Poster // 2518 Molecular and Cytogenetic Diagnostics |
Oct. 18 3:00pm – 4:00pm Exhibit Hall |
| 13 | Frequency of pathogenic variants in Fanconi/BRCA pathway genes in ten thousand clinical exomes referred for non-cancer indications | Plon, et al. | PLATFORM // Session 31 Secondary and Incidental Findings from WES/WGS |
Oct. 19 10:00am – 10:15am Level 2, Room 230C |
| 14 | Utility of exome sequencing for infants in intensive care units: Ascertainment of severe single-gene disorders and impact on medical management | Meng, et al. | PLATFORM // Session 46 Sequencing in Neonatal and Pediatric Disorders |
Oct. 19 11:15am – 11:30am Level 3, Room 330C |
| 15 | Variants in FOXP1 cause syndromic genitourinary tract defects | Bekheirnia, et al. | Poster // 887 Mendelian Phenotypes |
Oct. 19 2:00pm – 3:00pm Exhibit Hall |
| 16 | De novo TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological deficits with similarities to Smith-Magenis Syndrome | Vetrini, et al. | Poster // 1037 Reviewer’s Choice) Mendelian Phenotypes |
Oct. 19 2:00pm – 3:00pm Exhibit Hall |
| 17 | Concurrent exome and copy number variation (CNV) analyses enable more precise diagnoses and shorten diagnostic testing time in patients with pediatric disorders | Dharmadhikari, et al. | Poster // 2528 Molecular and Cytogenetics Diagnostics |
Oct. 19 3:00pm – 4:00pm Exhibit Hall |
| 18 | Replace with “A growing need for reverse clinical genomics: Demonstrated by phenotypic characterization of CDK13-related disorders” | Bostwick, et al. | Poster // 1136 Mendelian Phenotypes |
Oct. 19 3:00pm – 4:00pm Exhibit Hall |
| 19 | Tmlhe and Bbox1 null mouse models of carnitine deficiency | Ye, et al. | Poster // 944 Mendelian Phenotypes |
Oct. 19 3:00pm – 4:00pm Exhibit Hall |
| 20 | Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay. | Hubert et al. | Poster // 1460T Omics Technologies |
Oct. 19 3:00pm – 4:00pm Exhibit Hall |
| 21 | Mutations in DDX3X are a common cause of syndromic intellectual disability | Wang, X., et al. | Poster // 1047 Mendelian Phenotypes |
Friday, Oct. 20 11:30am – 12:30pm Exhibit Hall |
| 22 | A combination of Capture-based High-coverage NGS and WES analysis uncovers potential deleterious variants in the NARS2 gene expanding the phenotypical spectrum of Combined Oxidative Phosphorylation deficiencies | Wang Y., et al. | Poster // 1071 Mendelian Phenotypes |
Friday, Oct. 20 11:30am – 12:30pm Exhibit Hall |
| 23 | Enhanced detection of uniparental disomy (UPD) and copy number variations (CNVs) with delineation of parental origin for clinical trio exome cases | Dai, H., et al. | Poster // 2544 Molecular and Cytogenetic Diagnostics |
Friday, Oct. 20 12:30pm – 1:30pm Exhibit Hall |
| 24 | Haploinsufficiency of the chromatin-remodeling bromodomain PHD finger transcription factor BPTF leads to developmental delay, microcephaly, and dysmorphic features | Stankiewicz, et al. | PLATFORM // Session 1 Neurological Disorders: Chromatin in the Spotlight |
Saturday, Oct. 21 10:15am – 10:30am Level 3, Room 310A |