List of works - Isabel Filges

'Kinesinopathies': emerging role of the kinesin family member genes in birth defects

scientific article published on 19 May 2020

A Diagnostic Challenge: Prenatal Ultrasound Findings in Severe Epidermolysis Bullosa

scientific article published on 14 December 2018

A novel homozygous splice-site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development.

scientific article

Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies ⬇️

scientific article published on September 17, 2012

Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?

scientific article published on 3 December 2016

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication

scientific article published on 28 May 2014

CUGC for Stromme syndrome and CENPF-related disorders

scientific article published on 05 September 2019

Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?

scientific article published on 05 December 2013

Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism ⬇️

scientific article published on November 22, 2010

Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes

scientific article published on 21 July 2014

Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries

scientific article published on 24 January 2019

Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly

scientific article published on 26 February 2020

Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management

scientific article published on 18 July 2019

High resolution array in the clinical approach to chromosomal phenotypes ⬇️

scientific article published on January 3, 2012

Loss of function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish

scientific article published on 01 March 2019

Panhypopituitarism Presenting as Life-Threatening Heart Failure Caused by an Inherited Microdeletion in 1q25 Including LHX4 ⬇️

scientific article published on January 9, 2012

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder