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Cancer phenotypes of germline monoallelic ATM mutation carriers and their families

Oncology

Session:
#3497

Date:
Tuesday, Oct 22, 2013 12:00am – 12:00pm

Conference:
ASHG 2013

Authors:
H. LaDuca, A. Stuenkel, S. Keiles, T. Pesaran, S. Tandy, E. Chen, V. Speare, C. Radford, C. Gau

Abstract
Haploinsufficiency of GJB5 identified via exome sequencing causesa novel form of cutis laxa

Clinical Genomics

Session:
#3063

Date:
Tuesday, Oct 22, 2013 12:00am – 12:00pm

Conference:
ASHG 2013

Authors:
M. Dasouki, J. Roberts, K. Gonzalez, W Zeng, M. Butler, A. Belousov, I. Saadi

Collaborators:

King Faisal Specialist Hospital and Research Center
University of Kansas Medical Center

Abstract
Case report of a 17q21.31 microdeletion associated with EFTUD2 mandibulofacial dysostosis with microcephaly identified by comparative genomic hybridization

General

Session:
#2694

Date:
Tuesday, Oct 22, 2013 12:00am – 12:00pm

Conference:
ASHG 2013

Authors:
S.K. Gandomi, D.M. Reeves, M. Parra, C.L. Gau, V. Yap

Collaborators:

Arkansas Children’s Hospital
University of Arkansas for Medical Sciences

Abstract Poster
A retrospective analysis of discrepancies between genotypes and phenotypes on next generation sequencing colon cancer panels (ColoNext NGS): Implications for clinical diagnosis

Oncology

Session:
#2630

Date:
Tuesday, Oct 22, 2013 12:00am – 12:00pm

Conference:
ASHG 2013

Authors:
S. Tandy, A. Stuenkel, T. Pesaran, H. LaDuca, E. Chen, S. Keiles, V. Speare, C. Radford, W Zeng

Abstract
Diagnostic exome sequencing beneficial among patients with a prior diagnosis

Clinical Genomics

Session:
#2629

Date:
Tuesday, Oct 22, 2013 12:00am – 12:00pm

Conference:
ASHG 2013

Authors:
L.M. Shahmirzadi, K.D Gonzalez, S. Tang, E. Chao, S. Gandomi, B. Trippin, S. Nahas, W Zeng

Abstract
Clinical exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis

Clinical Genomics

Session:
#1341

Date:
Tuesday, Oct 22, 2013 12:00am – 12:00pm

Conference:
ASHG 2013

Authors:
S. Tang, S.K. Gandomi, K.D. Farwell Gonzalez, L. Shahmirzadi, J. Mancuso, P. Pichurin, R. Temme, S. Dugan, W Zeng

Collaborators:

Children's Hospital and Clinics of Minnesota
Mayo Clinic

Abstract
DES is uniquely useful in the identification of multi-gene alterations: Oligogenic findings make up a significant portion of previously undiagnosed patients

Clinical Genomics

Session:
#1111

Date:
Tuesday, Oct 22, 2013 12:00am – 12:00pm

Conference:
ASHG 2013

Authors:
K. Gonzalez, L. Shahmirzadi, E. Chao, S. Gandomi, M. Parra, B. Tippin Davis, W Zeng, S. Tang

Abstract
Strategy for reporting secondary findings for diagnostic exome sequencing (DES)

Clinical Genomics

Date:
Wednesday, Oct 9, 2013 12:00am – 12:00pm

Conference:
NSGC 2013

Authors:
Shahmirzadi L, Gonzalez K, Tang S, Parra M, Palmaer E, Keiles S, Chao E

Poster
Clinical report of concurrent Trisomy 21 and 22q11.21 microdeletion identified through array-based comparative genomic hybridization

General

Date:
Wednesday, Oct 9, 2013 12:00am – 12:00pm

Conference:
NSGC 2013

Authors:
Stephanie Gandomi, Melissa Para, Jill Kelsay, Chia-Ling Gau, PhD, DABMG, Kent McKelvey

Collaborators:

University of Arkansas for Medical Sciences

Poster
Clinical report of a 17q12 microdeletion with additional unreported clinical features: Expansion on the phenotype

General

Date:
Wednesday, Oct 9, 2013 12:00am – 12:00pm

Conference:
NSGC 2013

Authors:
Stephanie Gandomi, Melissa Parra, MS, CGC, Jennifer Roberts, Chia-Ling Gau, PhD, DABMG, Merlin G. Butler

Collaborators:

University of Kansas Medical Center

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Cancer phenotypes of germline monoallelic ATM mutation carriers and their families

Haploinsufficiency of GJB5 identified via exome sequencing causesa novel form of cutis laxa

Case report of a 17q21.31 microdeletion associated with EFTUD2 mandibulofacial dysostosis with microcephaly identified by comparative genomic hybridization

A retrospective analysis of discrepancies between genotypes and phenotypes on next generation sequencing colon cancer panels (ColoNext NGS): Implications for clinical diagnosis

Diagnostic exome sequencing beneficial among patients with a prior diagnosis

Clinical exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis

DES is uniquely useful in the identification of multi-gene alterations: Oligogenic findings make up a significant portion of previously undiagnosed patients

Strategy for reporting secondary findings for diagnostic exome sequencing (DES)

Clinical report of concurrent Trisomy 21 and 22q11.21 microdeletion identified through array-based comparative genomic hybridization

Clinical report of a 17q12 microdeletion with additional unreported clinical features: Expansion on the phenotype

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