Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
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| Title: | Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program. |
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| Authors: | Bonini KE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Thomas-Wilson A; Molecular Diagnostics, New York Genome Center, New York, New York, USA., Marathe PN; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Sebastin M; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA., Odgis JA; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Di Biase M; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA., Kelly NR; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA., Ramos MA; Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Insel BJ; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Scarimbolo L; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Rehman AU; Molecular Diagnostics, New York Genome Center, New York, New York, USA., Guha S; Molecular Diagnostics, New York Genome Center, New York, New York, USA., Okur V; Molecular Diagnostics, New York Genome Center, New York, New York, USA., Abhyankar A; Molecular Diagnostics, New York Genome Center, New York, New York, USA., Phadke S; Molecular Diagnostics, New York Genome Center, New York, New York, USA., Nava C; Molecular Diagnostics, New York Genome Center, New York, New York, USA., Gallagher KM; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA., Elkhoury L; Sema4, Stamford, Connecticut, USA., Edelmann L; Sema4, Stamford, Connecticut, USA., Zinberg RE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Obstetrics, Gynecology and Reproductive Science, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Abul-Husn NS; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Diaz GA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Greally JM; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA., Suckiel SA; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Horowitz CR; Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Kenny EE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Wasserstein M; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, New York, USA., Gelb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Jobanputra V; Molecular Diagnostics, New York Genome Center, New York, New York, USA.; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York, USA. |
| Source: | Clinical genetics [Clin Genet] 2023 Aug; Vol. 104 (2), pp. 210-225. Date of Electronic Publication: 2023 Jun 19. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.14365 |
