Search filters

List of works by Matthew A Deardorff

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

scientific article

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.

scientific article

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

scientific article

Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

scientific article published on 18 January 2016

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

scientific article

Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.

scientific article published on 20 October 2016

Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach

scientific article published on 09 January 2019

The chromatin remodeler ISWI acts during <i>Drosophila</i> development to regulate adult sleep

scientific article published on 17 February 2021

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

scientific article

Paulina is supported by:

About Paulina

Help