Judith Fischer

University of Freiburg

Germany

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Research Interests

Biostatistics

50%

Cell Biology

40%

Medical Science

90%

Hereditary Diseases

40%

Dermatology

40%

Genomic

20%

Homologous Recombination

20%

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Articles13

Confetti cure: reversing the genetic kaleidoscope of ichthyosis

Article Link

Year:

2024

Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations

Article Link

Year:

2024

CRISPR-Cas12a for Highly Efficient and Marker-Free Targeted Integration in Human Pluripotent Stem Cells

Article Link

Year:

2024

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

Article Link

Year:

2023

Syndromic ichthyoses

Article Link

Year:

2023

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

Article Link

Year:

2023

Amino Acid Substitution in the Cysteine-Rich Region of the Integrin β4 Subunit Causes Late-Onset Mild Junctional Epidermolysis Bullosa without Extracutaneous Involvement

Article Link

Year:

2023

Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans

Article Link

Year:

2023

Adding up the desmosomal genes causing syndromes with hair and skin involvement: identification of TUFT1 by state-of-the-art whole-genome sequencing

Article Link

Year:

2022

First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant

Article Link

Year:

2022

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

Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome

Article Link

Year:

2021

Collaborators4

Hazem A. Juratli

SWITZERLAND

Katalin Komlosi

GERMANY

Svenja Alter

University of Freiburg

GERMANY

Andreas Tzschach

University Medical Center Freiburg

GERMANY

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Judith Fischer

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Research Interests

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Articles13

Confetti cure: reversing the genetic kaleidoscope of ichthyosis

Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying <i>ABCA12</i> Mutations

CRISPR-Cas12a for Highly Efficient and Marker-Free Targeted Integration in Human Pluripotent Stem Cells

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

Syndromic ichthyoses

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

Amino Acid Substitution in the Cysteine-Rich Region of the Integrin β4 Subunit Causes Late-Onset Mild Junctional Epidermolysis Bullosa without Extracutaneous Involvement

Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans

Adding up the desmosomal genes causing syndromes with hair and skin involvement: identification of <i>TUFT1</i> by state-of-the-art whole-genome sequencing

First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant

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

Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome

Collaborators4

Hazem A. Juratli

Katalin Komlosi

Svenja Alter

Andreas Tzschach

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