Janecke, Andreas R.

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Jensen, L. R., Amende, M., Gurok, U., Moser, B., Gimmel, V., Tzschach, A., Janecke, A. R., Tariverdian, G., Chelly, J., Fryns, J.-P., et al. (2005) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 373

Variants in CPA1 are strongly associated with early onset chronic pancreatitis

Witt, H., Beer, S., Rosendahl, J., Chen, J.-M., Chandak, G. R., Masamune, A., Bence, M., Szmola, R., Oracz, G., Macek, M., et al. (2013) · Nature Genetics

Pancreatitis Pathology and TreatmentPancreatic and Hepatic Oncology Research

Cited by 305

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

Janecke, A. R., Thompson, D. A., Utermann, G., Becker, C., Hübner, C. A., Schmid, E., McHenry, C. L., Nair, A. R., Rüschendorf, F., Heckenlively, J., et al. (2004) · Nature Genetics

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 246

Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

Giunta, C., Elçioglu, N. H., Albrecht, B., Eich, G., Chambaz, C., Janecke, A. R., Yeowell, H., Weis, M., Eyre, D. R., Kraenzlin, M., et al. (2008) · The American Journal of Human Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 218

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Huang, L., Szymanska, K., Jensen, V. L., Janecke, A. R., Innes, A. M., Davis, E. E., Frosk, P., Li, C., Willer, J. R., Chodirker, B. N., et al. (2011) · The American Journal of Human Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 194

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

Guelly, C., Zhu, P.-P., Leonardis, L., Papić, L., Zidar, J., Schabhüttl, M., Strohmaier, H., Weis, J., Strom, T. M., Baets, J., et al. (2011) · The American Journal of Human Genetics

Hereditary Neurological DisordersGenetic Neurodegenerative Diseases

Cited by 143

Ferroportin disease: a systematic meta-analysis of clinical and molecular findings

Mayr, R., Janecke, A. R., Schranz, M., Griffiths, W. J. H., Vogel, W., Pietrangelo, A., & Zoller, H. (2010) · Journal of Hepatology

Iron Metabolism and DisordersNeurological diseases and metabolism

Cited by 133

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Rohrbach, M., Spencer, H. L., Porter, L. F., Burkitt-Wright, E. M. M., Bürer, C., Janecke, A., Bakshi, M., Sillence, D., Al-Hussain, H., Baumgartner, M., et al. (2013) · Molecular Genetics and Metabolism

Connective tissue disorders researchCorneal surgery and disorders

Cited by 83

The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations

Janecke, A. R., Li, B., Boehm, M., Krabichler, B., Rohrbach, M., Müller, T., Fuchs, I., Golas, G., Katagiri, Y., Ziegler, S. G., et al. (2016) · American Journal of Medical Genetics Part A

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 66

Identification of Mutations in SLC40A1 That Affect Ferroportin Function and Phenotype of Human Ferroportin Iron Overload

Mayr, R., Griffiths, W. J. H., Hermann, M., McFarlane, I., Halsall, D. J., Finkenstedt, A., Douds, A., Davies, S. E., Janecke, A. R., Vogel, W., et al. (2011) · Gastroenterology

Iron Metabolism and DisordersNeurological diseases and metabolism

Cited by 64

Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease

Schaefer, B., Haschka, D., Finkenstedt, A., Petersen, B.-S., Theurl, I., Henninger, B., Janecke, A. R., Wang, C.-Y., Lin, H. Y., Veits, L., et al. (2015) · Human Molecular Genetics

Iron Metabolism and DisordersNeurological diseases and metabolism

Cited by 35

Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family

JANECKE, A. R., UNSINN, K., KRECZY, A., BALDISSERA, I., GASSNER, I., NEU, N., UTERMANN, G., & MÜLLER, T. (2001) · Journal of Medical Genetics

Congenital limb and hand anomaliesConnective tissue disorders research

Cited by 31

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

Oppermann, H., Marcos-Grañeda, E., Weiss, L. A., Gurnett, C. A., Jelsig, A. M., Vineke, S. H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., et al. (2023) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 18

Loss of dermatan‐4‐sulfotransferase 1 (D4ST1/ CHST14 ) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate‐deficient adducted thumb–clubfoot syndrome”

Janecke, A. R., Baenziger, J. U., Müller, T., & Dündar, M. (2011) · Human Mutation

Proteoglycans and glycosaminoglycans researchLysosomal Storage Disorders Research

Cited by 18

Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series

Baumann, M., Beaver, E. M., Palomares‐Bralo, M., Santos‐Simarro, F., Holzer, P., Povysil, G., Müller, T., Valovka, T., & Janecke, A. R. (2020) · Human Mutation

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities

Cited by 16