ASHG 2017

American Society of Human Genetics

Conference Location

Orange County Convention Center
South Building
9800-9899 International Dr.
Orlando, FL 32819

Conference Dates

Oct. 18 to Oct. 20

Booth Number

709

Conference WebsiteASHG 2017 Meeting
Abstracts & Posters
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
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