Maximilian Radtke

Leipzig, SN, Germany

Last Updated: 09/26/2026

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Found 13 publications

Exome sequencing in Nigerian children with early-onset epilepsy syndromes.

Exome sequencing in Nigerian children with early-onset epilepsy syndromes.

Journal: Epilepsia open
Published: May 07, 2024

altAFplotter: a web app for reliable UPD detection in NGS diagnostics.

altAFplotter: a web app for reliable UPD detection in NGS diagnostics.

Journal: BMC bioinformatics
Published: May 03, 2024

Automatized detection of uniparental disomies in a large cohort.

Automatized detection of uniparental disomies in a large cohort.

Journal: Human genetics
Published: April 16, 2024

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Journal: Neurology
Published: January 02, 2024

Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis.

Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis.

Journal: Frontiers in genetics
Published: September 20, 2023

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.

Journal: Genes
Published: October 25, 2022

The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.

The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.

Journal: Clinical genetics
Published: July 19, 2022

CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.

CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.

Journal: Bioinformatics (Oxford, England)
Published: June 14, 2022

Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.

Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion.

Journal: Scientific reports
Published: April 22, 2022

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Journal: Genome medicine
Published: November 23, 2021

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.

Journal: European journal of human genetics : EJHG
Published: July 22, 2021

Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.

Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG
Published: June 15, 2021
Showing 1-12 of 13

Last Updated: 09/26/2026