List of works by Markus Schueler

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

scientific article

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

scientific article

FAT1 mutations cause a glomerulotubular nephropathy

scientific article

Genomic organization of transcriptomes in mammals: Coregulation and cofunctionality.

scientific article published on 21 March 2007

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

scientific article

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

scientific article published on 16 December 2015

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

scientific article published on 19 September 2013

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

scientific article

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

scientific article

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

scientific article published on October 2013

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