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Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Odgis, Jacqueline A; Gallagher, Katie M; Rehman, Atteeq U; Marathe, Priya N; Bonini, Katherine E; Sebastin, Monisha; Di Biase, Miranda; Brown, Kaitlyn; Kelly, Nicole R; Ramos, Michelle A; Thomas-Wilson, Amanda; Guha, Saurav; Okur, Volkan; Ganapathi, Mythily; Elkhoury, Lama; Edelmann, Lisa; Zinberg, Randi E; Abul-Husn, Noura S; Diaz, George A; Greally, John M; Suckiel, Sabrina A; Jobanputra, Vaidehi; Horowitz, Carol R; Kenny, Eimear E; Wasserstein, Melissa P; Gelb, Bruce D.
Affiliation
  • Odgis JA; The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, 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.
  • Rehman AU; Molecular Diagnostics, New York Genome Center, New York, New York, USA.
  • Marathe PN; The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Bonini KE; The 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.
  • 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.
  • Brown K; 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.
  • Thomas-Wilson A; Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, 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.
  • Ganapathi M; Molecular Diagnostics, New York Genome Center, New York, New York, USA.
  • Elkhoury L; Molecular Diagnostics, New York Genome Center, New York, New York, USA.
  • Edelmann L; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York, USA.
  • Zinberg RE; Sema4, Stamford, Connecticut, USA.
  • Abul-Husn NS; Sema4, Stamford, Connecticut, USA.
  • Diaz GA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Greally JM; Department of Obstetrics, Gynecology and Reproductive Science, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Suckiel SA; The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Jobanputra V; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Horowitz CR; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Kenny EE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Wasserstein MP; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Gelb BD; 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.
Am J Med Genet A ; 191(3): 699-710, 2023 03.
Article in En | MEDLINE | ID: mdl-36563179
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile Type of study: Diagnostic_studies / Guideline / Risk_factors_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile Type of study: Diagnostic_studies / Guideline / Risk_factors_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: United States