Katrin Knoflach
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Explore the profile of Katrin Knoflach including associated specialties, affiliations and a list of published articles.
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9
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577
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Recent Articles
1.
Postma A, Rapp C, Knoflach K, Volk A, Lemke J, Ackermann M, et al.
Genet Med Open
. 2024 Jan;
1(1):100811.
PMID: 38230350
Purpose: The aim of this study was to identify the monogenic cause of pulmonary arterial hypertension (PAH), a multifactorial and often fatal disease, in 2 unrelated consanguine families. Methods: We...
2.
Gargano M, Matentzoglu N, Coleman B, Addo-Lartey E, Anagnostopoulos A, Anderton J, et al.
Nucleic Acids Res
. 2023 Nov;
52(D1):D1333-D1346.
PMID: 37953324
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses...
3.
Li Y, Seidl E, Knoflach K, Gothe F, Forstner M, Michel K, et al.
Thorax
. 2023 Feb;
78(6):587-595.
PMID: 36808083
Background: The majority of patients with childhood interstitial lung disease (chILD) caused by pathogenic variants in ATP binding cassette subfamily A member 3 (ABCA3) develop severe respiratory insufficiency within their...
4.
Knoflach K, Rapp C, Schwerk N, Carlens J, Wetzke M, Emiralioglu N, et al.
Pediatr Pulmonol
. 2023 Jan;
58(4):1106-1121.
PMID: 36588100
Objective: Diffuse alveolar hemorrhage (DAH) in children is a rare condition resulting from different underlying diseases. This study aimed at describing characteristics and diagnostic measures in children with ILD (children's...
5.
Griese M, Panagiotou P, Manali E, Stahl M, Schwerk N, Costa V, et al.
ERJ Open Res
. 2022 Mar;
8(1).
PMID: 35350279
In childhood, a multitude of causes lead to pulmonary alveolar proteinosis (PAP), an excessive surfactant accumulation in the alveolar space, limiting gas exchange. Autoantibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF) causing...
6.
Seidl E, Schwerk N, Carlens J, Wetzke M, Emiralioglu N, Kiper N, et al.
Thorax
. 2022 Feb;
77(8):799-804.
PMID: 35149584
Introduction: Acute exacerbations (AEs) increase morbidity and mortality of patients with chronic pulmonary diseases. Little is known about the characteristics and impact of AEs on children's interstitial lung disease (chILD)....
7.
Knoflach K, Holzapfel E, Roser T, Rudolph L, Paolini M, Muenchhoff M, et al.
Front Pediatr
. 2022 Jan;
9:756014.
PMID: 34976891
Children have been described to show neurological symptoms in acute coronavirus disease 2019 (COVID-19) and multisystemic inflammatory syndrome in children (MIS-C). We present a 2-year-old boy's clinical course of unilateral...
8.
Gothe F, Gehrig J, Rapp C, Knoflach K, Reu-Hofer S, Langer F, et al.
Pediatr Pulmonol
. 2021 Sep;
56(12):3934-3941.
PMID: 34549903
Gain-of-function variants in STAT3 are known to cause severe, multifaceted autoimmunity. Here we report three individuals with de-novo STAT3 GOF alleles and early-onset, severe interstitial lung disease manifesting during the...
9.
Kohler S, Gargano M, Matentzoglu N, Carmody L, Lewis-Smith D, Vasilevsky N, et al.
Nucleic Acids Res
. 2020 Dec;
49(D1):D1207-D1217.
PMID: 33264411
The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is...