Search Results - "Labreche, Heather"

Fetal fraction amplification within prenatal cfDNA screening enables detection of genome-wide copy-number variants at enhanced resolution by Acevedo, Ashley, Teng, Oyang, LaBreche, Heather G., Nguyen, Alison, Jazo, Luis, Hong, Sun Hae, Suk, John, Pierson, Summer, Westover, Thomas, Ratzel, Sarah, Haas, Kevin R., Muzzey, Dale

“…Clinically significant copy-number variants (CNVs) occur in 1% to 2% of pregnancies and are difficult to detect via prenatal cell-free DNA (cfDNA) screening…”
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Curation and reporting of pathogenic genome-wide copy-number variants in a prenatal cell-free DNA screen by Cox, Samuel G., Acevedo, Ashley, Ahuja, Anand, LaBreche, Heather G., Alfaro, Maria P., Pierson, Summer, Westover, Thomas, Ratzel, Sarah, Hancock, Susan, Moyer, Krista, Muzzey, Dale

“…Advances in fetal fraction amplification in prenatal cell-free DNA screening now allow for high-resolution detection of copy-number variants (CNVs). However,…”
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Integrating factor analysis and a transgenic mouse model to reveal a peripheral blood predictor of breast tumors by LaBreche, Heather G, Nevins, Joseph R, Huang, Erich

“…Transgenic mouse tumor models have the advantage of facilitating controlled in vivo oncogenic perturbations in a common genetic background. This provides an…”
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A Proof-of-Concept Case Study for Personalized Noninvasive Prenatal Diagnosis: Can We Put It to Work? by LaBreche, Heather G., Sebastian, Siby

“…This commentary highlights the article by van den Oever et al that describes a new method of prenatal diagnosis of single-mutation disorders…”
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A Proof-of-Concept Case Study for Personalized Noninvasive Prenatal Diagnosis by LaBreche, Heather G, Sebastian, Siby

“…This commentary highlights the article by van den Oever et al that describes a new method of prenatal diagnosis of single-mutation disorders…”
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Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge by Xu, Qiong, Goldstein, Jennifer, Wang, Ping, Gadi, Inder K., Labreche, Heather, Rehder, Catherine, Wang, Wei-ping, McConkie, Allyn, Xu, Xiu, Jiang, Yong-hui

“…Background: The pathogenicity of copy number variations (CNV) in neurodevelopmental disorders is supported by research literature. However, few studies have…”
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Peripheral blood signatures of lead exposure by LaBreche, Heather G, Meadows, Sarah K, Nevins, Joseph R, Chute, John P

“…Current evidence indicates that even low-level lead (Pb) exposure can have detrimental effects, especially in children. We tested the hypothesis that Pb…”
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Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly by Griffin, Nicole G, Cronin, Kenneth D, Walley, Nicole M, Hulette, Christine M, Grant, Gerald A, Mikati, Mohamad A, LaBreche, Heather G, Rehder, Catherine W, Allen, Andrew S, Crino, Peter B, Heinzen, Erin L

“…Hemimegalencephaly (HME) is a heterogeneous cortical malformation characterized by enlargement of one cerebral hemisphere. Somatic variants in mammalian target…”
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Induction of Wilms' Tumor Protein (WT1)–Specific Antitumor Immunity Using a Truncated WT1-Expressing Adenovirus Vaccine by OSADA, Takuya, WOO, Christopher Y, MORSE, Michael A, KIM LYERLY, H, CLAY, Timothy M, MCKINNEY, Matthew, XIAO YI YANG, GANGJUN LEI, LABRECHE, Heather G, HARTMAN, Zachary C, NIEDZWIECKI, Donna, CHAO, Nelson, AMALFITANO, Andrea

“…Purpose: Wilms' tumor protein (WT1) is overexpressed in most leukemias and many solid tumors and is a promising target for tumor immunotherapy. WT1…”
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Fetal fraction amplification within NIPS enables detection of clinically relevant genome-wide copy-number-variants to 1Mb resolution by Acevedo, Ashley, Cox, Samuel, LaBreche, Heather, Alfaro, Maria, Pierson, Summer, Hancock, Susan, Moyer, Krista, Yeleswarapu, Sri Jyothsna, Hong, Sun Hae, Haas, Kevin, Muzzey, Dale

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eP443: Fetal fraction amplification within NIPS enables detection of clinically-relevant genome-wide copy-number variants to 1Mb resolution by Acevedo, Ashley, Cox, Samuel, Labreche, Heather, Alfaro, Maria, Pierson, Summer, Hancock, Susan, Moyer, Krista, Yeleswarapu, Jo, Hong, Sun, Haas, Kevin, Muzzey, Dale

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Genomic Signatures of Disease and Environmental Exposure in the Peripheral Blood by LaBreche, Heather Garren

“…My thesis research has centered on the concept of the peripheral blood cell (PBC) as an indicator of disease and environmental exposure. Historically, PBCs…”
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