J. Fischer

A. Köttgen, C. Bode, P. Rainer, 2018, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

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

K. Berggård, J. Fischer, R. Betz, 2023, Genes.

Lipoxygenase-3 ( ALOXE 3 ) and 12 ( R )-lipoxygenase ( ALOX 12 B ) are mutated in non-bullous congenital ichthyosiform erythroderma ( NCIE ) linked to chromosome 17 p 13 . 1

J. Weissenbach, M. Lathrop, J. Prud'homme, 2001 .

A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis

B. Hartmann, H. Gürkan, H. Tozkır, 2015, Clinical dysmorphology.

An association study of 22 candidate genes in psoriasis families reveals shared genetic factors with other autoimmune and skin disorders.

S. Heath, B. Prum, M. Lathrop, 2009, The Journal of investigative dermatology.

Sclerotherapy in a rare case of glomuvenous malformation (GVM) with severe skin manifestation

J. Fischer, T. Goerge, S. Braun, 2021, Journal of the European Academy of Dermatology and Venereology : JEADV.

Oral manifestations as the main feature of late‐onset recessive dystrophic epidermolysis bullosa

J. Fischer, C. Has, F. Schauer, 2018, Journal of the European Academy of Dermatology and Venereology : JEADV.

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.

O. Sarig, D. Kelsell, V. Plagnol, 2016, American journal of human genetics.

Mapping of Papillon-Lefèvre Syndrome to the Chromosome 11q14 Region

Jean Weissenbach, Louis Dubertret, Judith Fischer, 1997, European journal of human genetics : EJHG.

Clinical and genetic studies of 3 large, consanguineous, Algerian families with Mal de Meleda.

J. Prud'homme, J. Fischer, B. Bouadjar, 2000, Archives of dermatology.

L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.

M. Lathrop, R. Wanders, J. Prud'homme, 2004, Human molecular genetics.

The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.

J. Fischer, C. Has, F. Schauer, 2018, Acta dermato-venereologica.

Syndromic ichthyoses

J. Fischer, A. Hotz, K. Komlosi, 2023, Medizinische Genetik.

A rare cause of nonalcoholic fatty liver disease.

M. Manns, C. Strassburg, S. Ciesek, 2006, Annals of Internal Medicine.

CGI‐58/ABHD5 gene is mutated in Dorfman–Chanarin syndrome

J. Prud'homme, J. Fischer, L. Laroche, 2004, American journal of medical genetics. Part A.

Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation.

J. Fischer, N. Hadžić, A. Knisely, 2004, The Journal of pediatrics.

Genetic linkage of Meleda disease to chromosome 8qter

C. Fizames, J. Weissenbach, R. Heilig, 1998, European Journal of Human Genetics.

Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families

J. Fischer, C. Has, E. Abdalla, 2022, Pediatric dermatology.

Extending the phenotypic spectrum associated with mosaicism for GJB2 mutations

R. Happle, J. Fischer, C. Has, 2019, British Journal of Dermatology.

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function

J. Fischer, C. Has, A. Vahlquist, 2017, The British journal of dermatology.

Peripheral neuropathy in a patient with d-2-hydroxyglutaric aciduria

J. Sass, T. Coşkun, J. Fischer, 2009, Journal of Inherited Metabolic Disease.

Large deletions in the NSDHL gene in two patients with CHILD syndrome.

B. Hartmann, R. Happle, J. Fischer, 2015, Acta Dermato-Venereologica.

White Sponge Nevus – A Rare Autosomal Dominant Keratinopathy

J. Fischer, S. Benoit, H. Hamm, 2014, Klinische Pädiatrie.

A Family with Palmar and Plantar Hyperkeratosis: A Quiz

R. Happle, J. Fischer, D. Didona, 2020, Acta dermato-venereologica.

[Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity].

A. Nègre-Salvayre, J. Fischer, R. Salvayre, 2007, Medecine sciences : M/S.

Amino acid substitution in the cysteine rich region of the integrin β4 subunit causes late onset mild junctional epidermolysis bullosa without extracutaneous involvement.

J. Fischer, C. Has, P. Esser, 2023, The Journal of investigative dermatology.

Deletions in the spinal muscular atrophy gene region in a newborn with neuropathy and extreme generalized muscular weakness.

A. Aguzzi, E. Boltshauser, M. Glatzel, 2000, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Nature Genetics Advance Online Publication Pnpla1 Mutations Cause Autosomal Recessive Congenital Ichthyosis in Golden Retriever Dogs and Humans

F. Galibert, M. Lathrop, R. Zechner, 2022 .

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

Niklas Luetzen, T. Haack, A. Tzschach, 2023, American journal of medical genetics. Part A.

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

S. Grünert, J. Fischer, C. Has, 2021, Genes.

Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.

T. Jakob, J. Fischer, C. Has, 2015, The Journal of allergy and clinical immunology.

Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.

J. Prud'homme, D. Hohl, C. Munro, 2003, The Journal of investigative dermatology.

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

J. Fischer, S. Alter, 2022, The British journal of dermatology.

The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome.

P. Itin, J. Fischer, B. Burger, 2015, JAMA dermatology.

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.

D. Kelsell, H. Hennies, A. Zvulunov, 2011, American journal of human genetics.

The BAF complex interacts with Pax6 in adult neural progenitors to establish a neurogenic cross-regulatory transcriptional network.

G. Crabtree, Jeroen A. A. Demmers, V. Lefebvre, 2013, Cell stem cell.

Withdrawn: Skin fragility caused by biallelic KRT10 mutations: an intriguing form of self‐improving epidermolytic ichthyosis

J. Fischer, C. Has, L. Frommherz, 2019, The British journal of dermatology.

Autosomal recessive congenital ichthyosis.

J. Fischer, 2009, The Journal of investigative dermatology.

Tracing the Origin of L-2-Hydroxyglutaric Aciduria in a Family

M. Okun, H. Fernandez, R. Rodriguez, 2009, The International journal of neuroscience.