Andreas Tzschach

University Medical Center Freiburg

Germany

This profile is automatically generated from trusted academic sources.

Google Scholar

ORCID

How do I reach out?

Meet Kite AI

Contact this professor

ORCID

Google Scholar

Research Interests

Biostatistics

30%

Neurology

40%

Medical Science

60%

Hereditary Diseases

20%

Hydrocephalus

20%

Exome Sequencing

20%

Genomic

20%

Ask ApplyKite AI

Start chatting

How can you help me contact this professor?

What are this professor's research interests?

How should I write an email to this professor?

Articles11

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Article Link

Year:

2023

Novel homozygous <scp>LAMB1</scp> in‐frame deletion in a pediatric patient with brain anomalies and cerebrovascular event

Article Link

Year:

2023

Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Article Link

Year:

2022

Obsessive-compulsive symptoms in two patients with chromosomal disorders involving the X chromosome

Article Link

Year:

2022

Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin

Article Link

Year:

2022

PIGN encephalopathy: Characterizing the epileptology

Article Link

Year:

2022

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis

Article Link

Year:

2021

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation

Article Link

Year:

2021

The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome

Article Link

Year:

2021

New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-of-Function Mutation

Article Link

Year:

2020

Erratum: Diagnostic value of partial exome sequencing in developmental disorders (PLoS ONE (2020) 13:8 (e0201041) DOI: 10.1371/journal.pone.0201041)

Article Link

Year:

2020

Collaborators14

Jesus Duque-Afonso

faculty of medicine university of freiburg freiburg germany

GERMANY

Kathrin Nickel

University Medical Center Freiburg

GERMANY

Martin Boeker

´Professor for Medical Informatics

Technical University of Munich (TUM)

GERMANY

Sally Ann Lynch

IRELAND

Ludger Tebartz van Elst

University Medical Center Freiburg

GERMANY

Dieter Henrik Heiland

University of Freiburg

GERMANY

Judith Fischer

University of Freiburg

GERMANY

Patrick Metzger

GERMANY

Berten Ceulemans

BELGIUM

Frank Meiss

University Medical Center Freiburg

GERMANY

Dominique Endres

Geschäftsführender Oberarzt/Prof. Dr.

University Medical Center Freiburg

GERMANY

Robert Smigiel

prof.

Wroclaw Medical University

POLAND

Thalia Erbes

University of Freiburg

GERMANY

Simone Hettmer

University Medical Center Freiburg

GERMANY

How do I reach out?

Meet Kite AI

Andreas Tzschach

How do I reach out?

Contact this professor

Research Interests

Ask ApplyKite AI

Articles11

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Novel homozygous <scp><i>LAMB1</i></scp> in‐frame deletion in a pediatric patient with brain anomalies and cerebrovascular event

Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Obsessive-compulsive symptoms in two patients with chromosomal disorders involving the X chromosome

Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD<sub>ND</sub>): Time to Move Beyond the Skin

PIGN encephalopathy: Characterizing the epileptology

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation

The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome

New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel <i>CACNA1C</i> Loss-of-Function Mutation

Erratum: Diagnostic value of partial exome sequencing in developmental disorders (PLoS ONE (2020) 13:8 (e0201041) DOI: 10.1371/journal.pone.0201041)

Collaborators14

Jesus Duque-Afonso

Kathrin Nickel

Martin Boeker

Sally Ann Lynch

Ludger Tebartz van Elst

Dieter Henrik Heiland

Judith Fischer

Patrick Metzger

Berten Ceulemans

Frank Meiss

Dominique Endres

Robert Smigiel

Thalia Erbes

Simone Hettmer

How do I reach out?