Conference Presentations by Medical Specialty - Genetics

Below is a listing of recent posters and presentations by Quest Diagnostics medical and scientific staff.

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Establishing Gene Curation and the Clinical Validity of Variants Causing Antibody Deficiency

Authors: Ross JE, Palus BC, Owens E, Mohan S, Self A, Somerville C, Cooper J, Paczosa M, Chandra A, Jolles S, Maglione P, Picard C, Platt C, Sediva A, Sullivan K, Warnatz K, Zhang K, Raval F, Tangye SG, Abraham RS
Event: ClinGen 2021: Clinical Genome Resource, Virtual Retreat. Virtual [in-person conference canceled], June 24-June 25, 2021

Specialties: Genetics, Infectious Disease

Analyzing the mitochondrial genome of over 2500 patients with retinal disease

Authors: von Nandelstadh P, Tuupanen S, Gandia M, Vattulainen-Collanus S, Kämpjärvi K, Känsäkoski J, Merkkiniemi K, Sarantaus L, Västinsalo H, Perez-Carro R, Tallila J, Isokallio M, Kytölä V, Muona M, Sistonen J, Saarinen I, Koskenvuo J, Alastalo T-P
Event: ARVO 2021: Revolutionary Eye and Vision Research. Virtual [in-person conference canceled], May 1 - 6, 2021

Specialties: Genetics

Phenotypic and heteroplasmy level variability in m.3243 mitochondrial disease

Authors: Sanchez Alcudia R, Miko Valori M, Kytölä V, Koskinen L, Aledo-Serrano A, Salmenperä P, Gentile M, Tallila J, Koskenvuo J, Isokallio M
Event: SENEP 2021: Sociedad Espanola De Neurologia Pediatrica. Virtual [in-person conference canceled], May 10-15, 2021

Specialties: Genetics, Neurology

Developing a streamlined and sustainable variant curation process: Experience from ClinGen’s Cardiomyopathy Variant Curation Expert Panel

Authors: Kurtz CL, Kelly MA, Zouk H, Thomson K, Funke B
Event: CGC 2021: Curating the Clinical Genome. Virtual [in-person conference canceled], May 12-14, 2021

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Genetics

Customization of the ACMG/AMP framework for Rett and Angelman-like disorders presents unique challenges

Authors: McKnight D, Bean L, Karbassi I, Beattie k, Bienvenu T, Bonin H, Cheng H, Chrisodoulou J, Fang P, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Murphy K, Neul J, Percy A, Ramsden S, Zoghbi H, Das S
Event: CGC 2021: Curating the Clinical Genome. Virtual [in-person conference canceled], May 12-14, 2021

Specialties: Genetics, Neurology

Frequency of Pathogenic and Likely Pathogenic Variants in Breast and Ovarian Cancer Genes Identified in a 34-Gene Hereditary Multi-Cancer Panel at a Diagnostic Reference Laboratory

Quest Diagnostics Authors: Buller-Burckle, A, Grupe, A, Karbassi, I, Lacbawan, F, Nakles-Taylor, R, Owen, R, Rosenthal, SH, Smolgovsky, A
Authors: Nakles-Taylor R, Rosenthal SH, Smolgovsky A, Tully DM, Tirch J, Rhodes CH, Martz J, Hodko D, Tsao D, Nery C, Karbassi I, Grupe A, Owen R, Buller-Burckle A, Lacbawan F
Event: BRCA 2021 Symposium: The 8th International Symposium on Hereditary Breast and Ovarian Cancer. Virtual [in-person conference canceled], May 4 - 7, 2021

Specialties: Genetics, Oncology

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Detection of Germline and Somatic BRCA Mutations Using a 50-Gene Next-Generation Sequencing Panel

Quest Diagnostics Authors: Catanese, JJ, Lacbawan, F, Ma, C, Nakles-Taylor, R, Owen, R, Racke, FK, Rosenthal, SH
Authors: Rosenthal SH, Ma C, Acab A, Nakles-Taylor R, Van Ness M, Sugganth D, Catanese J, Owen R, Racke F, Lacbawan F
Event: BRCA 2021 Symposium: The 8th International Symposium on Hereditary Breast and Ovarian Cancer. Virtual [in-person conference canceled], May 4 - 7, 2021

Specialties: Genetics, Oncology

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Prenatal Theoretical Diagnostic Yield of a Rapid, Targeted Genetic Panel Designed for Critically Ill Pediatric Patients

Quest Diagnostics Authors: Hahn, S, Kucera, CR, Mullen, T, Stachiw-Hietpas, DL, Tanpaiboon, P, Witherington, SE
Authors: Stachiw-Hietpas DL, Kucera CR, Partack EJ, Witherington SE, Hahn SE, Tanpaiboon P, Mullen TE
Event: 2021: Wisconsin Genetic Counselors Association Annual Education Conference . Virtual [in-person conference canceled], April 30, 2021

Specialties: Genetics, Women's Health/OB/GYN

Diagnostic efficacy of next-generation sequencing panel tests in the diagnosis of inherited bone marrow failure syndromes

Authors: Scocchia A, Kokkonen P, Hirvonen E, Mårtensson E, Duzkale H, Gall K, Jacher J, Saarinen I, Sistonen J, Koskenvuo J, Koskinen L, Alastalo T-P
Event: CIS 2021: Clinical Immunology Society Meeting. Virtual [in-person conference canceled], April 14 - 17, 2021

Specialties: Genetics

Retrospective review of mitochondrial genome analysis in over 7000 cases using clinical grade mtDNA sequencing

Authors: Schleit J, Valori M, Kytölä V, Siivonen P, Salmenperä P, Gentile M, Sistonen J, Tallila J, Liaquat K, Koskenvuo J, Alastalo T-P, Isokallio M
Event: ACMG 2021: Annual Clinical Genetics Meeting. Virtual [in-person conference canceled], April 13 - 17, 2021

Specialties: Genetics

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.