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Clinical Genetics|June 24, 2021
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancyChristina K Rapp, Ine Van Dijck, Lucia Laugwitz, et al.
Pediatric Pulmonology|August 10, 2023
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected childrenKatharina Schütz, Axel Schmidt, Nicolaus Schwerk, et al.
Chest|May 15, 2026
Further genetic unravelling of persistent tachypnoea of infancy (PTI/NEHI)Christina K Rapp, Katharina Mauss-Schwarzer, Matthias Kappler, et al.
Genetics in Medicine Open|January 17, 2024
Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertensionAlex V Postma, Christina K Rapp, Katrin Knoflach, et al.
Clinical Genetics|February 18, 2021
FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!Luise A Schuch, Maria Forstner, Christina K Rapp, et al.
American Journal of Human Genetics|June 8, 2026
Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorderSock Hoai Chan, Audra N Iness, Jill A Rosenfeld, et al.
Nucleic Acids Research|December 2, 2020
The Human Phenotype Ontology in 2021Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, et al.
Nucleic Acids Research|November 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the worldMichael A Gargano, Nicolas Matentzoglu, Ben Coleman, et al.
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