ASHG 2017

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