Concepedia

J. Küsel

JK

Statistics

Publications

4

Citations

121

H-Index

4

Active since

2017

Affiliations

University Medical Center Freiburg(Current)

University of Freiburg

University Hospital Münster

Hôpital Saint-Louis

Assistance Publique – Hôpitaux de Paris

J. Küsel is an author at University Medical Center Freiburg specializing in molecular genetics, human genetics, and genetic syndromes.

Publications per year

2017–2019

4

Publications

4

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

Cristina Has, J. Küsel, Jonas Hoffmann et al. · Acta Dermato Venereologica · 2017 · 43 citations · Full text

, , +14

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

Andreas Zimmer, G.J. Kim, Alrun Hotz et al. · British Journal of Dermatology · 2017 · 31 citations

, , +16

Mutation update for <i>CYP4F22</i> variants associated with autosomal recessive congenital ichthyosis

Alrun Hotz, E. Bourrat, J. Küsel et al. · Human Mutation · 2018 · 31 citations

, , +15

Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in <i>NIPAL4</i>

Nadja Ballin, Alrun Hotz, E. Bourrat et al. · Human Mutation · 2019 · 16 citations · Full text

, , +17

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