Stephanie Andres

Munich, BY 81667, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 14 publications

SHANK3 and beta-synuclein are novel blood-based biomarkers for the Phelan-McDermid Syndrome: a pilot study.

SHANK3 and beta-synuclein are novel blood-based biomarkers for the Phelan-McDermid Syndrome: a pilot study.

Journal: Translational psychiatry

Published: June 22, 2025

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Journal: Nature genetics

Published: October 02, 2024

Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.

Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.

Journal: Neuropediatrics

Published: March 28, 2024

Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI.

Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI.

Journal: Orphanet journal of rare diseases

Published: March 16, 2023

Increased Radiation Sensitivity in Patients with Phelan-McDermid Syndrome.

Increased Radiation Sensitivity in Patients with Phelan-McDermid Syndrome.

Journal: Cells

Published: February 16, 2023

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.

Journal: European journal of medical genetics

Published: December 12, 2022

Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report.

Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report.

Journal: Molecular cytogenetics

Published: November 07, 2021

Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.

Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.

Journal: Human molecular genetics

Published: May 18, 2021

TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype.

TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype.

Journal: European journal of medical genetics

Published: March 30, 2020

First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome.

First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome.

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

Published: March 13, 2018

MAP2 - A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34.

MAP2 - A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34.

Journal: Frontiers in genetics

Published: November 10, 2017

Analysis of Factor D Isoforms in Malpuech-Michels-Mingarelli-Carnevale Patients Highlights the Role of MASP-3 as a Maturase in the Alternative Pathway of Complement.

Analysis of Factor D Isoforms in Malpuech-Michels-Mingarelli-Carnevale Patients Highlights the Role of MASP-3 as a Maturase in the Alternative Pathway of Complement.

Journal: Journal of immunology (Baltimore, Md. : 1950)

Published: April 12, 2017

Showing 1-12 of 14

Last Updated: 09/26/2026