List of works - Solveig Heide

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations

scientific article published on 04 October 2018

A 14q distal chromoanagenesis elucidated by whole genome sequencing

scientific article published on 25 September 2019

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

scientific article published on 14 March 2019

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

scientific article

Chromosome 14q32.2 imprinted region disruption as an alternative molecular diagnosis of Silver-Russell Syndrome.

scientific article published on 11 April 2018

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

scientific article published on 8 March 2017

Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis

scientific article published on 08 March 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

scientific article published on 09 May 2019

How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome

scientific article published on 12 November 2017

Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly

scientific article published in August 2017

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

scientific article

Nuclear volume differences between balanced and unbalanced spermatozoa in chromosomal translocation carriers

scientific article published on 04 December 2014

Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations

scientific article published on 16 September 2015

PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration

scientific article published on 14 December 2019

Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers

scientific article published on 27 June 2017

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

scientific article published on 22 June 2020

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

scientific article published on 07 August 2019

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

scientific article published on 14 July 2017

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature

scientific article published on 23 April 2015

List of works by Solveig Heide