Curation and reporting of pathogenic genome-wide copy-number variants in a prenatal cell-free DNA screen

Autor: Cox, Samuel G. ¹, Acevedo, Ashley ¹, Ahuja, Anand ¹, LaBreche, Heather G. ¹, Alfaro, Maria P. ¹, Pierson, Summer ¹, Westover, Thomas ², Ratzel, Sarah ¹, Hancock, Susan ¹, Moyer, Krista ¹, Muzzey, Dale ^{1, ∗}

Publikováno v: In Genetics in Medicine January 2025 27(1)

Peripheral Blood Signatures of Lead Exposure.

Autor: LaBreche, Heather G.^1,2,3 hgl@duke.edu, Meadows, Sarah K.⁴, Nevins, Joseph R.^1,2, Chute, John P.^1,4,5

Publikováno v: PLoS ONE. 2011, Vol. 6 Issue 8, p1-8. 8p.

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Fetal fraction amplification within prenatal cfDNA screening enables detection of genome-wide copy-number variants at enhanced resolution.

Autor: Acevedo A; Myriad Genetics, Inc, Salt Lake City, UT., Teng O; Myriad Genetics, Inc, Salt Lake City, UT., LaBreche HG; Myriad Genetics, Inc, Salt Lake City, UT., Nguyen A; Myriad Genetics, Inc, Salt Lake City, UT., Jazo L; Myriad Genetics, Inc, Salt Lake City, UT., Hong SH; Myriad Genetics, Inc, Salt Lake City, UT., Suk J; Myriad Genetics, Inc, Salt Lake City, UT., Pierson S; Myriad Genetics, Inc, Salt Lake City, UT., Westover T; Maternal-Fetal Medicine and Perinatal Genetics, Capital Health, Cooper Medical School, Rowan University, Camden, NJ., Ratzel S; Myriad Genetics, Inc, Salt Lake City, UT., Haas KR; Myriad Genetics, Inc, Salt Lake City, UT., Muzzey D; Myriad Genetics, Inc, Salt Lake City, UT. Electronic address: dale.muzzey@myriad.com.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Nov 21, pp. 101269. Date of Electronic Publication: 2024 Nov 21.

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.

Autor: Griffin NG; Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA., Cronin KD; Duke Human Vaccine Institute, Duke University School of Medicine, Durham, North Carolina 27710, USA., Walley NM; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina 27710, USA., Hulette CM; Department of Pathology, Duke University School of Medicine, Durham, North Carolina 27710, USA., Grant GA; Department of Neurosurgery, Stanford University School of Medicine, Stanford, California 94305, USA., Mikati MA; Division of Pediatric Neurology, Duke University Medical Center, Durham, North Carolina 27710, USA.; Department of Neurobiology, Duke University, Durham, North Carolina 27708, USA., LaBreche HG; Duke University Health System, Durham, North Carolina 27710, USA., Rehder CW; Duke University Health System, Durham, North Carolina 27710, USA., Allen AS; Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina 27710, USA., Crino PB; Department of Neurology, University of Maryland, School of Medicine, Baltimore, Maryland 21201, USA., Heinzen EL; Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA.; Department of Pathology and Cell Biology, Columbia University, New York, New York 10032, USA.

Publikováno v: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2017 Sep 01; Vol. 3 (5). Date of Electronic Publication: 2017 Sep 01 (Print Publication: 2017).