Last Posted: Nov 06, 2020
- NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Singh Kanika et al. BMC medical genetics 2020 Nov 21(1) 216
- Raloxifene and n-Acetylcysteine Ameliorate TGF-Signalling in Fibroblasts from Patients with Recessive Dominant Epidermolysis Bullosa.
Aguado Tania et al. Cells 2020 Sep 9(9)
- Analysis of KRT5 and KRT14 gene mutations and mode of inheritance in Iranian patients with clinical suspicion of Epidermolysis bullosa simplex.
Khani Pouria et al. Medical journal of the Islamic Republic of Iran 2020 3443
- Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases.
Mellerio Jemima E et al. Orphanet journal of rare diseases 2020 Jun 15(1) 142
- Next-generation sequencing through multi-gene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.
Chen Fuying et al. Clinical genetics 2020 Jun
- Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines.
Martin K et al. Orphanet journal of rare diseases 2019 14(1) 133
- Genetic counseling of high-risk isolated populations: A worldwide challenge.
Sagi-Dain Lena et al. Birth defects research 2020 Mar 112(4) 316-320
- Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine.
Condrat Irina et al. Frontiers in medicine 2018 5363
- Precision Medicine for Heritable Skin Diseases-The Paradigm of Epidermolysis Bullosa.
Uitto Jouni et al. The journal of investigative dermatology. Symposium proceedings 2018 Dec 19(2) S74-S76
- Diagnosis of Inherited Epidermolysis Bullosa in Resource-Limited Settings: Immunohistochemistry Revisited.
Yenamandra Vamsi Krishna et al. Dermatology (Basel, Switzerland) 2017 233(4) 326-332
- Utility of whole exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive Dystrophic Epidermolysis Bullosa in India - implications on diagnosis, prognosis and prenatal testing.
Mahajan Rahul et al. Journal of the European Academy of Dermatology and Venereology : JEADV 2018 Mar
- Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack.
Garcelon Nicolas et al. Journal of biomedical informatics 2017 Sep 7351-61
- The Position of Targeted Next-generation Sequencing in Epidermo-lysis Bullosa Diagnosis.
Has Cristina et al. Acta dermato-venereologica 2017 Dec
- Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group.
Sánchez-Jimeno C et al. Actas dermo-sifiliograficas 2017 Nov
- Living with a rare disorder: a systematic review of the qualitative literature.
von der Lippe Charlotte et al. Molecular genetics & genomic medicine 2017 Nov 5(6) 758-773
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.