Judith Fischer (J Fischer)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 31

Top Topics

Intellectual Disability

Highly Efficient

Top Venues

The British journal of dermatology

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

International journal of molecular sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Judith Fischer
Confetti cure: reversing the genetic kaleidoscope of ichthyosis. The British journal of dermatology 191 (3) (2024)
Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter, Judith Fischer
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations. Genes 15 (3) (2024)
Ruba Hammad, Jamal Alzubi, Manuel Rhiel, Kay O Chmielewski, Laura Mosti, Julia Rositzka, Marcel Heugel, Jan Lawrenz, Valentina Pennucci, Birgitta Gläser, Judith Fischer, Axel Schambach, Thomas Moritz, Nico Lachmann, Tatjana I Cornu, Claudio Mussolino, Richard Schäfer, Toni Cathomen
CRISPR-Cas12a for Highly Efficient and Marker-Free Targeted Integration in Human Pluripotent Stem Cells. International journal of molecular sciences 25 (2) (2024)
Ruba Hammad, Jamal Alzubi, Manuel Rhiel, Kay O Chmielewski, Laura Mosti, Julia Rositzka, Marcel Heugel, Jan Lawrenz, Valentina Pennucci, Birgitta Gläser, Judith Fischer, Axel Schambach, Thomas Moritz, Nico Lachmann, Tatjana I Cornu, Claudio Mussolino, Richard Schäfer, Toni Cathomen
CRISPR-Cas12a for Highly Efficient and Marker-Free Targeted Integration in Human Pluripotent Stem Cells. International journal of molecular sciences 25 (2) (2024)
Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter, Judith Fischer
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations. Genes 15 (3) (2024)
Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter, Judith Fischer
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations. Genes 15 (3) (2024)
Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter, Judith Fischer
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations. Genes 15 (3) (2024)
Ruba Hammad, Jamal Alzubi, Manuel Rhiel, Kay O Chmielewski, Laura Mosti, Julia Rositzka, Marcel Heugel, Jan Lawrenz, Valentina Pennucci, Birgitta Gläser, Judith Fischer, Axel Schambach, Thomas Moritz, Nico Lachmann, Tatjana I Cornu, Claudio Mussolino, Richard Schäfer, Toni Cathomen
CRISPR-Cas12a for Highly Efficient and Marker-Free Targeted Integration in Human Pluripotent Stem Cells. International journal of molecular sciences 25 (2) (2024)
Judith Fischer
Confetti Cure: Reversing the Genetic Kaleidoscope of Ichthyosis. The British journal of dermatology (2024)
Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Katalin Komlosi, Bakar Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, Regina C Betz, Kathrin Giehl, Fiona Schedel, Lisa Weibel, Solveig Schulz, Dora V Stölzl, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas David Zimmer, Svenja Alter, Judith Fischer
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. Genes 14 (3) (2023)
Judith Fischer, Alrun Hotz, Katalin Komlosi
Syndromic ichthyoses. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 35 (1) (2023)
Judith Fischer, Svenja Alter
Adding up the desmosomal genes causing syndromes with hair and skin involvement: identification of TUFT1 by state-of-the-art whole-genome sequencing. The British journal of dermatology 188 (1) (2023)
Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Katalin Komlosi, Bakar Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, Regina C Betz, Kathrin Giehl, Fiona Schedel, Lisa Weibel, Solveig Schulz, Dora V Stölzl, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas David Zimmer, Svenja Alter, Judith Fischer
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. Genes 14 (3) (2023)
Judith Fischer, Alrun Hotz, Katalin Komlosi
Syndromic ichthyoses. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 35 (1) (2023)
Sabine Jägle, Hao-Hsiang Hsu, Hazem A Juratli, Andreas David Zimmer, Amelie Prieschl, Svenja Alter, Bernhard Wiedenhofer, Dieter Metze, Steffen Emmert, Judith Fischer
Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans. The British journal of dermatology 188 (1) (2023)
Judith Fischer, Alrun Hotz, Katalin Komlosi
Syndromic ichthyoses. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 35 (1) (2023)
Louiza Toutouna, Stefanie Beck-Woedl, Ursula Feige, Birgitta Glaeser, Katalin Komlosi, Matthias Eckenweiler, Niklas Luetzen, Tobias B Haack, Judith Fischer, Ingrid Bader, Andreas Tzschach
Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event. American journal of medical genetics. Part A (2023)
Judith Fischer, Alrun Hotz, Katalin Komlosi
Syndromic ichthyoses. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 35 (1) (2023)
Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Katalin Komlosi, Bakar Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, Regina C Betz, Kathrin Giehl, Fiona Schedel, Lisa Weibel, Solveig Schulz, Dora V Stölzl, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas David Zimmer, Svenja Alter, Judith Fischer
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. Genes 14 (3) (2023)
Svenja Alter, Navid Farassat, Sebastian Küchlin, Wolf A Lagrèze, Judith Fischer
First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant. Genes 13 (3) (2022)
Luise D Resch, Alrun Hotz, Andreas David Zimmer, Katalin Komlosi, Nina Singh, Andreas Tzschach, Marisa Windfuhr-Blum, Ingolf Juhasz-Boess, Thalia Erbes, Judith Fischer, Svenja Alter
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. Genes 12 (10) (2021)
Dillon Mintoff, Isabella Borg, Julia Vornweg, Liam Mercieca, Rijad Merdzanic, Johannes Numrich, Susan Aquilina, Nikolai Paul Pace, Judith Fischer
A novel SPINK5 donor splice site variant in a child with Netherton syndrome. Molecular genetics & genomic medicine 9 (3) (2021)
Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Katalin Komlosi, Kathrin Giehl, Bakar Bouadjar, Anette Bygum, Iliana Tantcheva-Poor, Maritta Hellström Pigg, Cristina Has, Zhou Yang, Alan D Irvine, Regina C Betz, Giovanna Zambruno, Gianluca Tadini, Kira Süßmuth, Robert Gruber, Matthias Schmuth, Juliette Mazereeuw-Hautier, Natalie Jonca, Sophie Guez, Michela Brena, Angela Hernandez-Martin, Peter van den Akker, Maria C Bolling, Katariina Hannula-Jouppi, Andreas David Zimmer, Svenja Alter, Anders Vahlquist, Judith Fischer
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. Genes 12 (1) (2021)
Julia Kopp, Cristina Has, Alrun Hotz, Sarah Catharina Grünert, Judith Fischer
Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome. Genes 12 (8) (2021)
Julia Vornweg, S Gläser, M Ahmad-Anwar, Andreas David Zimmer, M Kuhn, S Hörer, G C Korenke, J Grothaus, H Ott, Judith Fischer
Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome. The British journal of dermatology 184 (6) (2021)
Anna Clara Schnause, Katalin Komlosi, Barbara Herr, Jürgen Neesen, Paul Dremsek, Thomas Schwarz, Andreas Tzschach, Sabine Jägle, Ekkehart Lausch, Judith Fischer, Birgitta Gläser
Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation. Genes 12 (11) (2021)
Svenja Alter, Andreas David Zimmer, Misun Park, Jianli Gong, Almuth Caliebe, Regina Fölster-Holst, Antonio Torrelo, Isabel Colmenero, Susan F Steinberg, Judith Fischer
Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1. Journal of medical genetics 58 (6) (2020)
Nadja Ballin, Alrun Hotz, Emmanuelle Bourrat, Julia Küsel, Vinzenz Oji, Bakar Bouadjar, Davide Brognoli, Geoffroy Hickman, Lisa Heinz, Pierre Vabres, Slaheddine Marrakchi, Stéphanie Leclerc-Mercier, Alan Irvine, Gianluca Tadini, Henning Hamm, Cristina Has, Ulrike Blume-Peytavi, Diana Mitter, Marina Reitenbach, Ingrid Hausser, Andreas David Zimmer, Svenja Alter, Judith Fischer
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4. Human mutation 40 (12) (2019)
Svenja Alter, Alrun Hotz, Arne Jahn, Nataliya Di Donato, Evelin Schröck, Martin Smitka, Maja von der Hagen, Jens Schallner, Mario Menschikowski, Claus Gillitzer, Martin W Laass, Judith Fischer, Andreas Tzschach
Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome. American journal of medical genetics. Part A 176 (12) (2018)
Lisa Heinz, E Bourrat, P Vabres, J Thevenon, Alrun Hotz, S Hörer, J Küsel, Andreas David Zimmer, S Alter, R Happle, Judith Fischer
Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia. The British journal of dermatology 180 (3) (2018)
Alrun Hotz, Emmanuelle Bourrat, Julia Küsel, Vinzenz Oji, Svenja Alter, Lisanne Hake, Mouna Korbi, Hagen Ott, Ingrid Hausser, Andreas D Zimmer, Judith Fischer
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. Human mutation 39 (10) (2018)