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List of shared articles
Times cited
Personalized medicine for rare neurogenetic disorders: can we make it happen?
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Agnies M van Eeghen, Hilgo Bruining, Nicole I Wolf, Arthur A Bergen, Riekelt H Houtkooper, Mieke M van Haelst, Clara D van Karnebeek. Cold Spring Harb Mol Case Stud 2022
The clinical utility of exome and genome sequencing across clinical indications: a systematic review.
Salma Shickh, Chloe Mighton, Elizabeth Uleryk, Petros Pechlivanoglou, Yvonne Bombard. Hum Genet 2021
Salma Shickh, Chloe Mighton, Elizabeth Uleryk, Petros Pechlivanoglou, Yvonne Bombard. Hum Genet 2021
Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment.
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Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.
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Jennifer Malinowski, David T Miller, Laurie Demmer, Jennifer Gannon, Elaine Maria Pereira, Molly C Schroeder, Maren T Scheuner, Anne Chun-Hui Tsai, Scott E Hickey, Jun Shen. Genet Med 2020
NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.
Ana Fernandez-Marmiesse, Sofia Gouveia, Maria L Couce. Curr Med Chem 2018
Ana Fernandez-Marmiesse, Sofia Gouveia, Maria L Couce. Curr Med Chem 2018
Paediatric genomics: diagnosing rare disease in children.
Caroline F Wright, David R FitzPatrick, Helen V Firth. Nat Rev Genet 2018
Caroline F Wright, David R FitzPatrick, Helen V Firth. Nat Rev Genet 2018
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
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Michelle M Clark, Zornitza Stark, Lauge Farnaes, Tiong Y Tan, Susan M White, David Dimmock, Stephen F Kingsmore. NPJ Genom Med 2018
Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.
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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.
Alessandro Borghesi, Maria Antonietta Mencarelli, Luigi Memo, Giovanni Battista Ferrero, Andrea Bartuli, Maurizio Genuardi, Mauro Stronati, Alberto Villani, Alessandra Renieri, Giovanni Corsello. Ital J Pediatr 2017
Alessandro Borghesi, Maria Antonietta Mencarelli, Luigi Memo, Giovanni Battista Ferrero, Andrea Bartuli, Maurizio Genuardi, Mauro Stronati, Alberto Villani, Alessandra Renieri, Giovanni Corsello. Ital J Pediatr 2017