A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders - Concepedia

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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

DOI Full Paper Access

399

Citations

33

References

2016

Year

Zornitza Stark, Tiong Yang Tan, Belinda Chong, Gemma R. Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie,

Genetics in Medicine

Mendelian DisorderGenetic DisorderWhole-exome SequencingGeneticsMedicinePediatricsProspective EvaluationPrenatal DiagnosisGenomicsSuspected Monogenic DisordersPrenatal TestingMolecular DiagnosticsSequencingVariant InterpretationMonogenic Disorders

References

	Year	Citations

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