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List of works by Shahrin Pereira

Clinical diagnosis by whole-genome sequencing of a prenatal sample

scientific article

Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature

scientific article published on 17 April 2014

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities

scientific article

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

scientific article published on 25 January 2013

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

scientific article published on December 2012

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

scientific article

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

scientific article published on 19 April 2012

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

scientific article published on 13 October 2016

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

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