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List of works by Zhiyv Niu

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in <i>GEMIN5</i>

scientific article published on 28 February 2022

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

scientific article

Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome ⬇️

scientific article published on August 16, 2013

Impact of integrated translational research on clinical exome sequencing

scientific article published on 04 November 2020

Impact of integrated translational research on clinical exome sequencing

scientific article published in 2023

Molecular diagnostic experience of whole-exome sequencing in adult patients

scientific article published on 03 December 2015

Molecular findings among patients referred for clinical whole-exome sequencing

scientific article

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome

scientific article

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.

scientific article published on 28 September 2017

P086: Mosaic Li-Fraumeni syndrome identified in patient with a previously presumed germline variant following preimplantation genetic testing: A case report

scientific article published in 2023

POGZ truncating alleles cause syndromic intellectual disability.

scientific article

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