Jens Schallner

Dresden, SN, Germany

Last Updated: 09/26/2026

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Found 25 publications

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Journal: Journal of human genetics

Published: April 30, 2026

Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life.

Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: February 12, 2024

Deep Brain Stimulation in a Patient with TSPOAP1-Biallelic Variant of Autosomal-Recessive Dystonia.

Deep Brain Stimulation in a Patient with TSPOAP1-Biallelic Variant of Autosomal-Recessive Dystonia.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: August 23, 2023

Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis.

Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis.

Journal: Neuropathology and applied neurobiology

Published: December 19, 2022

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.

Journal: European journal of human genetics : EJHG

Published: November 09, 2022

Handgrip and finger flexion strength in children: A cross-sectional assessment of age-related normative data and application as a clinical functional marker in paediatric neuromuscular disorders.

Handgrip and finger flexion strength in children: A cross-sectional assessment of age-related normative data and application as a clinical functional marker in paediatric neuromuscular disorders.

Journal: Brain & development

Published: March 30, 2022

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.

Journal: Nature genetics

Published: August 05, 2021

Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children.

Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children.

Journal: Annals of clinical and translational neurology

Published: June 17, 2021

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.

Journal: American journal of medical genetics. Part A

Published: April 07, 2021

Correction: Diagnostic value of partial exome sequencing in developmental disorders.

Correction: Diagnostic value of partial exome sequencing in developmental disorders.

Journal: PloS one

Published: September 24, 2020

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.

Journal: Journal of medical genetics

Published: September 17, 2020

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.

Journal: Journal of human genetics

Published: February 25, 2020

Showing 1-12 of 25

Last Updated: 09/26/2026