Alexej Knaus
Alexej Knaus
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Germany
Verified email at uni-bonn.de - Homepage
Title
Cited by
Cited by
Year
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), 1-13, 2018
502018
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
372014
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
352016
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
242019
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
222019
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
212019
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
192019
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
162019
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), 1-16, 2015
152015
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
132020
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
132017
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
112020
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation
M Holtgrewe, A Knaus, G Hildebrand, JT Pantel, MR de Los Santos, ...
Scientific reports 8 (1), 1-5, 2018
112018
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
112015
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
92017
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
92016
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical …
MD Thompson, AA Knaus, BA Barshop, A Caliebe, H Muhle, TTM Nguyen, ...
European journal of medical genetics 63 (4), 103822, 2020
52020
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
42020
Familial Xp11. 22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report
M Danyel, EK Suk, V Raile, J Gellermann, A Knaus, D Horn
BMC medical genomics 12 (1), 1-6, 2019
42019
A novel mutation in PIGA associated with multiple congenital anomalies-hypotonia-seizure syndrome 2 (MCAHS2) in a boy with a combination of severe epilepsy and gingival hyperplasia
CM Neuhofer, R Funke, B Wilken, A Knaus, J Altmüller, P Nürnberg, Y Li, ...
Molecular syndromology 11 (1), 30-37, 2020
32020
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