Fransiska Malfait - Genetic Mutations

Author Information

Fransiska Malfait is affiliated with the Department of Biomolecular Medicine at Ghent University and the Center for Medical Genetics at Ghent University Hospital in Ghent, Belgium. Her research primarily focuses on connective tissue disorders, with a significant emphasis on Ehlers-Danlos Syndromes (EDS) and related conditions.

Research Contributions

Fransiska Malfait has made substantial contributions to the understanding of connective tissue disorders, particularly Ehlers-Danlos Syndromes. Her recent work includes exploring the physical and psychological impacts of hypermobile EDS and hypermobility spectrum disorder, investigating the molecular mechanisms underlying these conditions, and examining the role of collagens and other genetic factors in the pathophysiology of these syndromes. Her research has provided valuable insights into the genetic and molecular basis of these disorders, aiding in the development of better diagnostic and therapeutic approaches.

Aliases

F Malfait, F. Malfait, Fransiska Malfait

Publication and Citation Metrics

Total Citations	h-index	Total Papers
8523	52	251

Publications:

Muscle Strength, Muscle Mass and Physical Impairment in Women with hypermobile Ehlers-Danlos syndrome and Hypermobility Spectrum Disorder

DOI:

Year: 2022

Exploring pain mechanisms in hypermobile Ehlers-Danlos syndrome: a case-control study.

DOI: 10.1002/ejp.1956

Year: 2022

The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism

DOI: 10.3390/genes13020265

Year: 2022

Editorial: Molecular Mechanisms of Heritable Connective Tissue Disorders

DOI: 10.3389/fgene.2022.866665

Year: 2022

The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET.

DOI: 10.55563/clinexprheumatol/d2qz38

Year: 2022

The Impact of Hypermobile “Ehlers-Danlos Syndrome” and Hypermobile Spectrum Disorder on Interpersonal Interactions and Relationships

DOI: 10.3389/fresc.2022.832806

Year: 2022

Collagens in the Physiopathology of the Ehlers–Danlos Syndromes

DOI: 10.1007/978-3-030-67592-9_3

Year: 2021

Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome

DOI: 10.1016/j.mbplus.2021.100090

Year: 2021

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

DOI: 10.1016/j.xhgg.2021.100051

Year: 2021

Loss of TANGO1 Leads to Absence of Bone Mineralization

DOI: 10.1002/jbm4.10451

Year: 2021

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What are the Challenges in Cancer Genomics?

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