Utility and implications of exome sequencing in early-onset Parkinson’s disease

Trinh J, Lohmann K, Baumann H, Balck A, Borsche M, Brüggemann N, Dure L, Dean M, Volkmann J, Tunc S, Prasuhn J, Pawlack H, Imhoff S, Lill CM, Kasten M, Bauer P, Rolfs A,; International Parkinson’s Disease Genomics Consortium (IPDGC), Klein C.

Mov Disord. 2019 Jan;34(1):133-137. doi: 10.1002/mds.27559. Epub 2018 Dec 10.

https://www.ncbi.nlm.nih.gov/pubmed/30537300

Genotype-phenotype relations for the Parkinson’s disease genes SNCA, LRRK2, VPS35: MDSGene systematic review

Trinh J, Zeldenrust FMJ, Huang J, Kasten M,, Schaake S, Petkovic S, Madoev H, Grünewald A, Almuammar S, König IR, Lill CM, Lohmann K, Klein C, Marras C.
Mov Disord. 2018 Dec;33(12):1857-1870. doi: 10.1002/mds.27527. Epub 2018 Oct 24.

https://www.ncbi.nlm.nih.gov/pubmed/30357936

Disease-causing or benign? challenges in genetic variant interpretation and limitations of ClinVar

Petkovic S, Lohmann K.
Mov Disord. 2018 Aug;33(8):1271. doi: 10.1002/mds.94.

https://www.ncbi.nlm.nih.gov/pubmed/30230623

An integrated OMICS approach unravels the elusive genetic cause of X-linked dystonia-parkinsonism

Reyes CJ, Westenberger A.
Mov Disord. 2018 Jul;33(7):1095. doi: 10.1002/mds.27458.

https://www.ncbi.nlm.nih.gov/pubmed/30153393

Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism

Rakovic A, Domingo A, Grütz K, Kulikovskaja L, Capetian P, Cowley SA, Lenz I, Brüggemann N, Rosales R, Jamora D4, Rolfs A, Seibler P, Westenberger A, König I, Klein C.
Mov Disord. 2018 Jul;33(7):1108-1118. doi: 10.1002/mds.27441.

https://www.ncbi.nlm.nih.gov/pubmed/30153385

Genotype-Phenotype Relations for the Parkinson’s Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review

Kasten M, Hartmann C, Hampf J, Schaake S, Westenberger A, Vollstedt EJ, Balck A, Domingo A, Vulinovic F, Dulovic M, Zorn I, Madoev H, Zehnle H, Lembeck CM, Schawe L, Reginold J, Huang J, König IR, Bertram L, Marras C, Lohmann K, Lill CM, Klein C.
Mov Disord. 2018 May;33(5):730-741. doi: 10.1002/mds.27352. Epub 2018 Apr 11.
https://www.ncbi.nlm.nih.gov/pubmed/29644727

Age- and sex-related heterogeneity in prodromal Parkinson’s disease

Heinzel S, Kasten M, Behnke S, Vollstedt EJ, Klein C, Hagenah J, Pausch C, Heilmann R, Brockmann K, Suenkel U, Yilmaz R, Liepelt-Scarfone I, Walter U, Berg D.
Mov Disord. 2018 Jul;33(6):1025-1027. doi: 10.1002/mds.27349. Epub 2018 Mar 23.

https://www.ncbi.nlm.nih.gov/pubmed/29570852

Reduced penetrance of Leucine-rich repeat kinase 2 mutations: Discovering genetic factors of endogenous disease protection

Balck A, Klein C.
Mov Disord. 2017 Apr;32(4):527. doi: 10.1002/mds.26940. Epub 2017 Feb 20.
https://www.ncbi.nlm.nih.gov/pubmed/28218415

What would Dr. James Parkinson think today? The role of genetics in Parkinson’s disease

Lill CM, Klein C.
Mov Disord. 2017 Aug;32(8):1115-1116. doi: 10.1002/mds.27141.
https://www.ncbi.nlm.nih.gov/pubmed/28836355