|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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