Sledovat
Alexej Knaus
Alexej Knaus
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Germany
E-mailová adresa ověřena na: uni-bonn.de - Domovská stránka
Název
Citace
Citace
Rok
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
TC Hsieh, A Bar-Haim, S Moosa, N Ehmke, KW Gripp, JT Pantel, ...
Nature genetics 54 (3), 349-357, 2022
1052022
PEDIA: prioritization of exome data by image analysis
TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ...
Genetics in Medicine 21 (12), 2807-2814, 2019
892019
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
A Knaus, JT Pantel, M Pendziwiat, N Hajjir, M Zhao, TC Hsieh, ...
Genome Medicine 10, 1-13, 2018
882018
VarFish: comprehensive DNA variant analysis for diagnostics and research
M Holtgrewe, O Stolpe, M Nieminen, S Mundlos, A Knaus, U Kornak, ...
Nucleic acids research 48 (W1), W162-W169, 2020
552020
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome
A Knaus, T Awaya, I Helbig, Z Afawi, M Pendziwiat, J Abu‐Rachma, ...
Human mutation 37 (8), 737-744, 2016
522016
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome
N Ehmke, A Caliebe, R Koenig, SG Kant, Z Stark, V Cormier-Daire, ...
The American Journal of Human Genetics 95 (6), 763-770, 2014
512014
Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation
B Höchsmann, Y Murakami, M Osato, A Knaus, M Kawamoto, N Inoue, ...
The Journal of Clinical Investigation 129 (12), 5123-5136, 2019
502019
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19
A Schmidt, S Peters, A Knaus, H Sabir, F Hamsen, C Maj, J Fazaal, ...
NPJ genomic medicine 6 (1), 55, 2021
492021
Mutations in PIGU impair the function of the GPI transamidase complex, causing severe intellectual disability, epilepsy, and brain anomalies
A Knaus, F Kortüm, T Kleefstra, A Stray-Pedersen, D Đukić, Y Murakami, ...
The American Journal of Human Genetics 105 (2), 395-402, 2019
452019
Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases
Y Murakami, TTM Nguyen, N Baratang, PK Raju, A Knaus, S Ellard, ...
The American Journal of Human Genetics 105 (2), 384-394, 2019
442019
Lessons learned from 40 novel PIGA patients and a review of the literature
A Bayat, A Knaus, M Pendziwiat, A Afenjar, TS Barakat, F Bosch, ...
Epilepsia 61 (6), 1142-1155, 2020
412020
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph
C Peng, S Dieck, A Schmid, A Ahmad, A Knaus, M Wenzel, L Mehnert, ...
NAR Genomics and Bioinformatics 3 (3), lqab078, 2021
332021
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation
M Holtgrewe, A Knaus, G Hildebrand, JT Pantel, MR Santos, K Neveling, ...
Scientific reports 8 (1), 14611, 2018
312018
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
A Bayat, A Knaus, AW Juul, D Dukic, E Gardella, A Charzewska, ...
Genetics in Medicine 21 (10), 2216-2223, 2019
262019
Reduced cell surface levels of GPI‐linked markers in a new case with PIGG loss of function
JJ Zhao, J Halvardson, A Knaus, P Georgii‐Hemming, P Baeck, ...
Human Mutation 38 (10), 1394-1401, 2017
222017
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation
DM Ibrahim, N Tayebi, A Knaus, AC Stiege, A Sahebzamani, J Hecht, ...
American journal of medical genetics Part A 170 (3), 615-621, 2016
222016
Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site …
A Howaldt, AF Hennig, T Rolvien, U Rössler, N Stelzer, A Knaus, ...
Journal of Bone and Mineral Research 35 (7), 1322-1332, 2020
212020
A novel de novo FZD2 mutation in a patient with autosomal dominant omodysplasia
S Türkmen, M Spielmann, N Güneş, A Knaus, R Flöttmann, S Mundlos, ...
Molecular syndromology 8 (6), 318-324, 2017
182017
Crowdsourced direct-to-consumer genomic analysis of a family quartet
M Corpas, W Valdivia-Granda, N Torres, B Greshake, A Coletta, A Knaus, ...
BMC genomics 16, 1-16, 2015
182015
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome–the emerging role of combined NGS and phenotype based strategies
R Flöttmann, A Knaus, T Zemojtel, PN Robinson, S Mundlos, D Horn, ...
European Journal of Medical Genetics 58 (8), 376-380, 2015
162015
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Články 1–20